| Description | Observed phenotypes of transgenic mice collected from mouse phenotyping studies |
| Measurement | association by various assays depending on phenotype |
| Association | gene-phenotype associations from phenotyping studies of knockout mice |
| Category | disease or phenotype associations |
| Resource | Mammalian Phenotype Ontology |
| Citation(s) | |
| Last Updated | 2023 Aug 23 |
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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
10234 sets of gene mutations causing phenotypes in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
| Gene Set | Description |
|---|---|
| liver hypoplasia | underdevelopment or reduced size of the liver, usually due to a reduced number of cells, |
| abnormal placenta labyrinth morphology | any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation |
| decreased embryo size | smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) |
| abnormal trigeminal ganglion morphology | any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) |
| abnormal dorsal root ganglion morphology | any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column |
| abnormal erythropoiesis | atypical process of the formation of enucleated fetal and adult erythrocytes |
| abnormal fourth ventricle morphology | any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space |
| abnormal third ventricle morphology | any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina |
| hypoxia | reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia |
| abnormal lens fiber morphology | any structural anomaly of the elongated cells of the crystalline lens of the eye |
| abnormal lens development | aberrant formation of the transparent structure of the eye responsible for focusing light rays |
| abnormal cell cycle | failure to progress or abnormal progression through the stages of the cell cycle |
| increased neuron apoptosis | increase in the number of neurons undergoing programmed cell death |
| pallor | Abnormally pale skin. |
| abnormal cell cycle checkpoint function | anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable |
| abnormal placental transport | anomaly in the conveyance of metabolic products and nutrients across the placenta |
| abnormal macrophage differentiation | atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells |
| increased lens fiber apoptosis | increase in the number of lens fibers cells undergoing programmed cell death |
| increased nucleated erythrocyte cell number | presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells |
| abnormal neuron differentiation | abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses |
| embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| increased fibroblast proliferation | greater the expansion rate of a fibroblast cell population by cell division |
| abnormal blood vessel morphology | any structural anomaly of the network of tubes that carries blood through the body |
| abnormal vascular regression | premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress |
| arteriovenous malformation | An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. |
| embryonic growth retardation | slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) |
| abnormal vitelline vascular remodeling | anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network |
| abnormal anterior cardinal vein morphology | any structural anomaly of the two paired veins draining the cephalic part of the body |
| abnormal common cardinal vein morphology | any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart |
| abnormal dorsal aorta morphology | any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation |
| abnormal placental labyrinth vasculature morphology | any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products |
| embryonic lethality between somite formation and embryo turning, complete penetrance | death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) |
| decreased spongiotrophoblast size | reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors |
| abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| abnormal neural tube morphology | any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) |
| abnormal gastrulation | any anomaly in the development and invagination of the embryonic germ layers |
| abnormal brain development | aberrant or incomplete differentiation of the brain |
| abnormal primitive streak formation | anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm |
| abnormal ectoderm development | any abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation; ectoderm is in contact with the amnionic cavity and gives rise to two distinct lineages, i.e. the surface ectoderm and the neural ectoderm; it is the source of Rathke's pouch and forms the central and peripheral nervous systems, the sensory epithelia of the eye, ear, and nose, the epidermis and its appendages (nails and hair), the mammary, pituitary and subcutaneous glands, the tooth enamel, and the mucous membranes of the mouth and anus |
| abnormal mesoderm development | failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities |
| abnormal allantois morphology | any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels |
| abnormal visceral yolk sac morphology | any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells |
| abnormal somite shape | anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo |
| abnormal axial mesoderm morphology | failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord |
| abnormal notochord morphology | any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia |
| impaired somite development | atypical process of somite formation with the result of fewer or none of these cell masses being formed |
| fused somites | a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage |
| absent midbrain | |
| embryonic-extraembryonic boundary constriction | an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm |
| absent forebrain | absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| rostral body truncation | rostral part of body truncated; typically with the caudal portion of the body relatively normal |
| absent prechordal mesoderm | absence of or failure to form the area of axial mesoderm that develops into the prechordal plate |
| absent metencephalon | absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii |
| abnormal visceral yolk sac endoderm morphology | any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients |
| abnormal visceral yolk sac mesenchyme morphology | any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme |
| postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| abnormal extraembryonic tissue morphology | any structural anomaly of the membranes involved with embryonic protection and nutrition |
| abnormal placenta morphology | any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin |
| decreased trophoblast giant cell number | fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta |
| abnormal trophoblast layer morphology | any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta |
| abnormal trophoblast giant cell morphology | anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta |
| abnormal chorion morphology | any structural anomaly of the outermost extraembryonic membrane |
| absent placental labyrinth | absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| disorganized embryonic tissue | a lack of the regular arrangement of any embryonic tissues |
| absent chorion | absence of the outermost extraembryonic membrane |
| failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| absent spongiotrophoblast | absence of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors |
| abnormal lymphatic vessel morphology | any structural anomaly of the network of vessels which carries lymph around the body |
| absent pre-B cells | absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface |
| abnormal foot pad morphology | any structural anomaly of the body of fat on the foot |
| hydrops fetalis | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| abnormal B cell differentiation | atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors |
| hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| intracerebral hemorrhage | bleeding within the cerebrum |
| abnormal late pro-B cell | any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain |
| lymphatic vessel hyperplasia | overdevelopment or increased size, usually due an increased number of cells in lymphatic vessels |
| dilated vasculature | stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body |
| abnormal lymphangiogenesis | any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels |
| abnormal lymphatic vessel endothelium morphology | any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall |
| enlarged lymphatic vessel | increased size of the network of vessels which carries lymph around the body |
| postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| abnormal cardiovascular system morphology | any structural anomaly of the heart or vascular tissue |
| abnormal mouth morphology | any structural anomaly of the oral cavity |
| abnormal muscle morphology | any structural anomaly of the contractile tissue that produces movement in animals |
| absent salivary gland | missing any of the saliva-secreting glands of the oral cavity |
| thymus hypoplasia | decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size |
| abnormal outer ear morphology | any structural anomaly of any components of the auricles or external acoustic meatus |
| mandible hypoplasia | |
| abnormal pulmonary ventilation | anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment |
| double outlet right ventricle | OMIM mapping confirmed by DO. [SN]. |
| cleft chin | incomplete fusion of the chin; usually a fissure |
| overriding aortic valve | |
| abnormal facial nerve morphology | any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular |
| abnormal trigeminal nerve morphology | any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular |
| abnormal mandibular nerve branching | malformed or misprojected axons of the mandibular nerve |
| persistent truncus arteriosis | |
| abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| abnormal palatine bone morphology | any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits |
| abnormal skeleton morphology | any structural anomaly of the bony framework of the body in vertebrates |
| ectopic thymus | |
| absent tympanic membrane | absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear |
| absent tympanic ring | missing the bony ring at the ear canal to which the tympanic membrane is attached |
| patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| abnormal palate morphology | any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| transposition of great arteries | cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle |
| abnormal carotid artery morphology | any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid |
| absent stapes | Aplasia of the stapes. |
| absent incus | absence of the middle of the three auditory ossicles |
| absent malleus | Aplasia of the malleus. |
| absent Meckel's cartilage | absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments |
| small zygomatic bone | reduced size of the quadrilateral bone that forms the prominence of the cheek |
| abnormal styloid process morphology | any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments |
| abnormal first pharyngeal arch morphology | any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery |
| small second pharyngeal arch | reduced size of the second branchial arch |
| absent submandibular gland | absence of either of the large major salivary glands situated beneath the mandible |
| tongue hypoplasia | |
| perimembraneous ventricular septal defect | |
| absent right subclavian artery | absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body |
| aorta tubular hypoplasia | a diffuse narrowing of the lumen of the aorta |
| interrupted aorta | complete discontinuation or blockage in the aorta |
| perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| absent tubotympanic recess | absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum |
| abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. |
| anophthalmia | Absence of the globe or eyeball. |
| abnormal diencephalon morphology | any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex |
| abnormal synaptic transmission | An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. |
| abnormal pretectal region morphology | any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex |
| small thalamus | decreased size of the thalamus |
| abnormal ventral interneuron 1 morphology | any structural anomaly of the ventral interneurons that appear to control burst durations and are characterized by expression of En1, Foxd3, Dbx2, Pax6, and Irx3 |
| abnormal vascular development | aberrant process of vascular formation |
| thin ventricular wall | decreased depth of the cardiac wall of the heart ventricles |
| abnormal pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| abnormal vitelline vasculature morphology | any structural anomaly of the vascular network that supplies the yolk sac |
| abnormal vascular endothelial cell development | anomaly in the differentiation of the cells that line the vasculature |
| abnormal endocardium morphology | any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart |
| dilated dorsal aorta | stretched or widened aperture of the luminal space of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation |
| abnormal mandible morphology | any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held |
| abnormal nasal cavity morphology | any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa |
| abnormal nasal septum morphology | any structural anomaly of the structure that separates the two nasal cavities |
| abnormal vomer bone morphology | any structural anomaly of the triangular flat bone of the nasal septum |
| abnormal Meckel's cartilage morphology | any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments |
| absent malleus processus brevis | absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule |
| abnormal tympanic membrane morphology | any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear |
| decreased tympanic ring size | smaller than average tympanic ring |
| abnormal masticatory muscle morphology | any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles |
| small pterygoid bone | reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull |
| small alisphenoid bone | reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young |
| palatine bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in either of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits |
| abnormal mandibular angle morphology | any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles |
| abnormal nasal capsule morphology | any structural anomaly in the cartilage around the developing nasal cavity of the embryo |
| small malleus manubrium | reduced size of the handle of the malleus |
| absent gastric milk in neonates | failure of nursing offspring to ingest milk as indicated by stomach content |
| decreased birth body size | reduction in average body size at birth compared to controls |
| absent external auditory canal | |
| neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the basal lamina of olfactory epithelium |
| absent ethmoturbinates | absence of the conchae of the ethmoid bone which normally occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals |
| abnormal epitympanic recess morphology | any structural anomaly of the upper portion of the tympanic cavity located above the tympanic membrane; it contains the head of the malleus and the body of the incus |
| abnormal intrinsic tongue muscle morphology | any structural anomaly of any of the four paired muscles that originate and insert within the tongue, running along its length; these muscles alter the shape of the tongue by lengthening and shortening it, curling and uncurling its apex and edges, and flattening and rounding its surface; they include the superior longitudinal muscle, the inferior longitudinal muscle, the vertical muscle, and the transverse muscle |
| small vomer bone | reduced size of the triangular flat bone of the nasal septum |
| small mandibular coronoid process | reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) |
| cleft palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| abnormal cranium morphology | any structural anomaly of the bones of the head |
| abnormal vibrissa morphology | any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors |
| abnormal maxilla morphology | any structural anomaly of the upper bony framework of the mouth where the superior teeth are held |
| abnormal brain morphology | any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) |
| abnormal eye development | malformation or arrest of differentiation of the visual organ |
| edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| abnormal sternum morphology | any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process |
| abnormal tooth development | any anomaly in the formation of the teeth |
| polydactyly | |
| syndactyly | A synostosis that results_in the fusion of two or more digits. |
| exencephaly | neurocranial defects resulting in exposure or extrusion of the brain |
| abnormal ear position | anomaly in the space between or the placement of the outer ears |
| incomplete rostral neuropore closure | arrest of the fusion of the cephalic neural folds |
| absent neurocranium | missing bones of the skull enclosing the brain |
| short tibia | Underdevelopment (reduced size) of the tibia. |
| abnormal long bone morphology | any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles |
| abnormal craniofacial development | anomaly in the process of forming the face and/or cranium |
| short humerus | Underdevelopment of the humerus. |
| short radius | reduced length of the short bone of the lateral forearm |
| short ulna | reduced length of the medial and larger of the two bones of the forearm |
| abnormal embryonic autopod plate morphology | any structural anomaly of transient developing limb structure that forms by expansion of the distal end of the limb paddle and will give rise to the pedal appendages (e.g. hand, foot, paw) |
| abnormal vertebral arch morphology | any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) |
| increased diameter of humerus | increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
| increased diameter of radius | increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge |
| increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| abnormal vibrissa number | any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors |
| prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| abnormal foregut morphology | any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder |
| abnormal lung development | anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs |
| pulmonary hypoplasia | |
| decreased lung weight | reduced average weight of the lung |
| abnormal tracheal cartilage morphology | any structural anomaly of the cartilaginous structures that support the trachea |
| abnormal esophagus development | aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach |
| abnormal esophageal smooth muscle morphology | any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus |
| small lung | reduced size of the lung compared to controls |
| abnormal right lung morphology | any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes |
| increased type II pneumocyte number | greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored |
| small lung saccule | reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth |
| esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| trachea hypoplasia | underdevelopment or reduced size of the trachea, usually due a reduced number of cells |
| trachea stenosis | |
| esophagus stenosis | |
| thick lung-associated mesenchyme | increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development |
| decreased mesenchymal cell proliferation involved in lung development | reduction in the expansion rate of a lung mesenchymal cell population by cell division |
| abnormal liver development | any anomaly in the differentiation of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage |
| anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| embryonic growth arrest | the cessation of development beyond a particular stage |
| abnormal mesendoderm development | failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm |
| absent heart | absence of the hollow, muscular organ that maintains the circulation of the blood |
| absent foregut | absence of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder |
| abnormal anterior head development | any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized |
| herniated abdominal wall | |
| abnormal parietal bone morphology | any structural anomaly of the curved bone forming part of the vault of the cranium |
| perinatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) |
| abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the anterio-posterior (A-P) axis |
| short mandible | reduced length of the lower bony framework of the mouth where the inferior teeth are held |
| short maxilla | reduced length of the upper jaw bone |
| open neural tube | failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline |
| abnormal forebrain morphology | any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| meroanencephaly | type of anencephaly in which the brain and cranium are present in rudimentary form |
| acrania | |
| short zygomatic bone | reduced length of the bone that forms the prominence of the cheek |
| small frontal bone | reduced size of the bone forming the forehead and roof of the eye orbit |
| absent interparietal bone | absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| small parietal bone | reduced size of the curved bone forming part of the vault of the cranium |
| small supraoccipital bone | reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young |
| absent presphenoid bone | absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult |
| decreased cranium length | having an decreased dorsal-to-ventral distance of the cranium |
| small temporal bone squamous part | reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault |
| abnormal nasal cartilage morphology | any structural abnormality of any of the cartilaginous elements formed from hyaline cartilage that provide form and support to the nose |
| pale liver | liver lacking normal coloration, often refers to bloodless condition |
| small liver | reduced size of the liver |
| pale yolk sac | bloodless yolk sac |
| abnormal megakaryocyte differentiation | atypical production of or inability to produce of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| impaired hematopoiesis | atypical process of blood cell formation with the result of fewer of these cells being formed |
| abnormal embryonic erythropoiesis | anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans |
| abnormal embryonic tissue morphology | any structural anomaly or development of any embryonic tissue resulting in morphological abnormality |
| decreased cell proliferation | reduction in the expansion rate of a cell population by cell division |
| abnormal imprinting | defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself |
| abnormal DNA methylation | any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA |
| embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) |
| small visceral yolk sac | reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo |
| increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| abnormal definitive hematopoiesis | abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues |
| absent organized vascular network | formation of vasculature, but failure to differentiate into stereotypic organized pattern |
| absent visceral yolk sac blood islands | absence of the masses of developing blood cells attached to endothelium in the yolk sac |
| absent vitelline blood vessels | absence of the vascular network that supplies the yolk sac |
| congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| no abnormal phenotype detected | normal, viable and fertile appearance and behavior; reported phenotype is indistinguishable from controls |
| impaired myelopoiesis | atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed |
| internal hemorrhage | The presence of hemorrhage within the body. |
| hemopericardium | A pericardial effusion that results from blood in the pericardial sac. |
| abnormal erythrocyte morphology | any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function |
| decreased erythrocyte cell number | reduced number of the cells that transport oxygen, red blood cells, per unit |
| abnormal embryonic erythrocyte morphology | any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation |
| irregular coat pigmentation | uneven coloration of the hair |
| small testis | reduced size of the male reproductive glands |
| absent coat pigmentation | fur or hair is devoid of coloration and appears white |
| macrocytic anemia | |
| abnormal ovarian follicle number | abnormal numbers of spheroid cell aggregations in the ovary |
| premature death | death after weaning age, but before the normal life span (Mus: after 3 weeks of age) |
| increased cell proliferation | increase in the expansion rate of a cell population by cell division |
| increased tumor incidence | greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type |
| increased carcinoma incidence | greater than the expected number of any of a variety of malignant neoplasms arising from epithelial cells, occurring in a specific population in a given time period; carcinomas are usually glandular or squamous in origin |
| increased rhabdomyosarcoma incidence | greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period |
| increased sarcoma incidence | greater than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period |
| abnormal cell physiology | any functional anomaly of the vital processes of the cell |
| abnormal response to cardiac infarction | change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors |
| decreased apoptosis | less than normal cell death |
| decreased cellular sensitivity to gamma-irradiation | decreased incidence of cell death following exposure to gamma-irradiation |
| oxidative stress | condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma |
| abnormal thymus physiology | any functional anomaly of the primary lymphoid organ that is required for immune system development |
| increased osteosarcoma incidence | |
| increased cellular glucose import | increased ability of a cell to take in glucose from the environment |
| abnormal chromosome number | chromosome count is other than the expected diploid chromosome number |
| decreased cellular sensitivity to ionizing radiation | decreased incidence of cell death following exposure to ionizing radiation |
| delayed cellular replicative senescence | slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division |
| decreased sensitivity to induced cell death | increase in the exposure level to an agent that is required to induce cessation of function at the cellular level |
| decreased thymocyte apoptosis | reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death |
| decreased susceptibility to induced morbidity/mortality | increase in the amount of an external agent required to cause death or diseased state |
| increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| decreased tumor-free survival time | decrease in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms |
| intracranial hemorrhage | Hemorrhage occurring within the skull. |
| spinal hemorrhage | bleeding into the spine |
| abnormal cell morphology | any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms |
| abnormal blood circulation | failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart |
| abnormal heart development | aberrant formation or incomplete differentiation of the heart |
| abnormal somite development | any anomaly in the formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo; somites are transient structures - balls or blocks of paraxial mesoderm cells with an epithelial outer layer and a mesenchymal cell core - that emerge sequentially through a mesenchymal-to-epithelial transition (MET) from the morphologically unpatterned presomitic mesoderm; they give rise to the metameric anatomy of the vertebral column itself, and the associated skin, muscle and tendons |
| abnormal aorta morphology | any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries |
| abnormal amnion morphology | any structural anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected |
| abnormal rostral-caudal axis patterning | anomaly in the development or formation of the axis that runs from the head to the tail of the body |
| abnormal cell migration | any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes |
| failure of initiation of embryo turning | failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage |
| abnormal embryonic neuroepithelium morphology | any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells |
| abnormal mesocardium morphology | any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth |
| thick myocardium | increased thickness of the heart muscle layer |
| abnormal vitelline artery morphology | any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult |
| abnormal visceral yolk sac cavity morphology | any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm) |
| abnormal head fold morphology | any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development |
| abnormal head mesenchyme morphology | any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells |
| small amniotic cavity | reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds |
| abnormal ovary morphology | any structural anomaly of the female reproductive gland containing the germ cells |
| abnormal oogenesis | atypical formation or failure to form the female germ cells |
| abnormal secondary sex determination | gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous |
| secondary sex reversal | secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex |
| absent kidney | |
| delayed kidney development | late onset of the induction and/or differentiation of the kidney |
| decreased thymocyte number | fewer than expected number of immature T cells located in the thymus |
| decreased oocyte number | reduced numbers of germ cells in the female |
| kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| abnormal female germ cell morphology | any structural anomaly female germ cells whether they are undifferentiated or fully differentiated |
| absent Mullerian ducts | absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina |
| oocyte degeneration | a retrogressive impairment of function or destruction of the female germ cells |
| abnormal metanephric mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue |
| abnormal nephrogenic mesenchyme morphogenesis | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron |
| abnormal suckling behavior | reduced ability or inability to exert suction by the mouth, or atypical suckling pattern |
| abnormal craniofacial bone morphology | any structural anomaly of the cranial or facial bones |
| abnormal skeleton development | any anomaly in the formation of bone tissue |
| abnormal cartilage development | anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life |
| abnormal otic capsule morphology | any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism |
| abnormal malleus morphology | any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer |
| abnormal tympanic ring morphology | any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached |
| abnormal basioccipital bone morphology | any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young |
| abnormal facial motor nucleus morphology | any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression |
| abnormal incus morphology | any structural anomaly of the middle of the three auditory ossicles |
| abnormal stapes morphology | any structural anomaly of the smallest and innermost of the three auditory ossicles |
| abnormal temporal bone morphology | any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous |
| absent outer ear | absence of the auricles or external acoustic meatus |
| abnormal scala vestibuli morphology | any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane |
| abnormal temporal bone squamous part morphology | any structural anomaly of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault |
| abnormal gonial bone morphology | any structural anomaly of the investing bone that lies on the surface of the malleus |
| enlarged gonial bone | increased size of the investing bone that lies on the surface of the malleus |
| absent styloid process | absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion |
| cleft secondary palate | |
| bifid tongue | Tongue with a median apical indentation or fork. |
| absent hyoid bone lesser horns | absence of shorter and more medial of the paired processes on either side of the hyoid bone |
| increased rhombomere 1 size | increased size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus |
| abnormal rhombomere 2 morphology | any structural anomaly of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal rhombomere 3 morphology | any structural anomaly of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal retrotympanic process morphology | any structural anomaly of the posterior extension of the squamosal bone that lies just above the incus |
| absent stylohyoid muscle | absence of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle that elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing |
| abnormal tympanic cavity morphology | any structural anomaly of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves; it is split into two parts: the tympanic cavity proper (the space directly internal to the tympanic membrane) and the epitympanic recess or attic (the space superior to the tympanic membrane) |
| absent stapedius muscle | missing the tiny muscle normally found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes |
| abnormal tensor tympani muscle morphology | any structural anomaly of the tiny striated muscle that originates superior to the pharyngotympanic tube, the sphenoid, and the temporal bone and inserts into the handle of the malleus; it tenses the tympanic membrane and dampens the movements of the auditory ossicles to prevent ear damage from loud sounds; it is innervated by the trigeminal nerve |
| abnormal temporal bone tympanic part morphology | any structural anomaly of the curved plate of bone that is situated inferiorly to the squamous part and anteriorly to the mastoid part of the temporal bone; it surrounds the external auditory meatus, forming the anterior wall, floor and some of the posterior wall of the bony external acoustic meatus; its lateral border gives the attachment to the cartilaginous part of the external acoustic meatus; its anteroinferior surface forms the posterior boundary of the mandibular fossa |
| asymmetric rib joints | loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum |
| increased rib number | greater than normal numbers of the pairs of bony structures that are elements of the body wall |
| cervical vertebral transformation | homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae |
| abnormal sternum ossification | anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone |
| sternebra fusion | appearance of one or more sternebrae as a single structure |
| abnormal body weight | anomaly in average weight compared to controls |
| postnatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) |
| neonatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) |
| incomplete somite formation | arrest of differentiation or patterning of the somites |
| increased apoptosis | greater than normal programmed cell death |
| absent pharyngeal arches | missing the transient structures of the embryo that develop into regions of the head, neck and ears |
| pharyngeal arch hypoplasia | underdevelopment or reduced size of the transient structures of the embryo that develop into regions of the head, neck and ears, usually due to reduced cell number |
| abnormal myogenesis | anomaly in embryonic formation of muscle cells or fibers |
| spina bifida | |
| abnormal muscle precursor cell migration | defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body |
| abnormal dermomyotome development | any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue |
| prenatal lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) |
| abnormal penile erection | altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood |
| priapism | A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. |
| abnormal liver morphology | any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage |
| abnormal hepatocyte morphology | any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules |
| dilated liver sinusoidal space | the luminal space of one or more liver sinusoids is increased in volume or area |
| irregular heartbeat | uneven timing of heart contraction |
| dissociated hepatocytes | disorganization of cohesive hepatocyte structure |
| decreased fetal weight | reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth) |
| lethality throughout fetal growth and development, complete penetrance | death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| disorganized placental labyrinth | derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| rib bifurcation | forking or division of ribs, may be a result of partial rib fusions |
| short ribs | Reduced rib length. |
| abnormal sternocostal joint morphology | any anomaly in the normal joining of the ribs to the sternum |
| absent myotome | absence of the mesoderm that is derived from the somite that is fated to become the musculature |
| abnormal cartilage morphology | Any abnormality of cartilage. |
| abnormal tibia morphology | any structural anomaly of the medial and larger of the two bones of the lower leg |
| abnormal hindlimb morphology | any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species |
| micrognathia | Developmental hypoplasia of the mandible. |
| abnormal long bone epiphyseal plate morphology | any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles |
| short femur | An abnormal shortening of the femur. |
| increased width of hypertrophic chondrocyte zone | increased width of cartilage cell matrix layer |
| abnormal pelvic girdle bone morphology | any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton |
| absent ilium | absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis |
| small ischium | reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis |
| small pubis | reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis |
| absent patella | absence of the large sesamoid bone that covers the anterior surface of the knee |
| absent gonial bone | absence of the investing bone that normally lies on the surface of the malleus |
| failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| bifurcated tongue | tongue is split into two halves at the anterior tip; this is normal in some animals such as reptiles |
| absent sesamoid bone of gastrocnemius | missing the small sesamoid bones situated behind the condyles of the femur |
| abnormal vertebrae morphology | any structural anomaly of the bony segments of the spinal column |
| absent vertebral body | absence of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| absent intervertebral disk | absence of the cartilaginous and gelatinous structure found between vertebrae |
| abnormal costovertebral joint morphology | any anomaly in the normal joining of the ribs to the vertebral column, these connections are made by costovertebral ligaments between the head of the rib and the body of the thoracic vertebra |
| abnormal lateral ventricle morphology | any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle |
| disorganized myocardium | derangement of the pattern cardiac muscle layers |
| abnormal interventricular septum morphology | any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum |
| thin myocardium | reduced thickness of the cardiac muscle layer |
| pericardial effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| abnormal myocardium layer morphology | any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers |
| abnormal chorioallantoic fusion | anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta |
| abnormal epicardium morphology | any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart |
| thin myocardium compact layer | reduced thickness of the outer, dense layer of the myocardium |
| dilated allantois | an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention |
| hydropic allantois | excessive accumulation of fluid within the allantoic sac |
| abnormal vasculogenesis | aberrant process of the initial establishment of the vascular network |
| absent notochord | missing axial fibrocellular cord in embryos around which develops the vertebral primordia |
| kinked neural tube | twists or kinks in the embryonic neural tube |
| absent somites | absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo |
| abnormal cardiac jelly morphology | any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart |
| abnormal lateral plate mesoderm morphology | any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures |
| short rostral-caudal axis | length reduction or truncation of the axis that runs from the head to the tail of the body |
| abnormal cell death | any anomaly in the cessation of function at the cellular level |
| incomplete embryo turning | arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage |
| distended pericardium | an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium |
| decreased angiogenesis | reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network |
| abnormal umbilical artery morphology | any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord |
| abnormal visceral yolk sac blood island morphology | any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac |
| abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| abnormal umbilical cord blood vessel morphology | any structural anomaly of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta |
| abnormal germ layer development | abnormal development of the three primary germ layers of the embryo |
| absent amniotic folds | failure of the amnion to form involutions |
| absent allantois | missing fetal membrane which contributes to the formation of the umbilical cord and placenta |
| abnormal embryonic epiblast morphology | any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion |
| shortened head | |
| forebrain hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| abnormal placenta vasculature | any structural anomaly of the vessels of the placenta |
| delayed embryo turning | completion of axial rotation occurs later than in controls but is eventually completed |
| placenta hemorrhage | presence of bleeding in the placenta |
| abnormal digit morphology | any structural anomaly of the fingers or toes |
| abnormal carpal bone morphology | any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids |
| brachypodia | abnormally short feet |
| abnormal tarsal bone morphology | any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones |
| abnormal phalanx morphology | any structural anomaly of any of the long bones of the digits |
| abnormal patella morphology | any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee |
| abnormal metacarpal bone morphology | any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| abnormal metatarsal bone morphology | any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| abnormal digit development | anomaly in the formation of the digits |
| short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| short metatarsal bones | reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| fused phalanges | anomaly of the long bones of the digits resulting in some or all the bones being joined together |
| fused carpal bones | anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together |
| abnormal limb mesenchyme morphology | any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells |
| abnormal axial skeleton morphology | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| abnormal spinal cord morphology | any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris |
| abnormal lens induction | any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens |
| abnormal lens vesicle development | malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye |
| absent tibia | Absence of the tibia. |
| abnormal retina neuronal layer morphology | any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments |
| abnormal neural tube closure | any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline |
| abnormal hindlimb zeugopod morphology | any structural anomaly of the distal elements of the hindlimb including the tibia and fibula |
| abnormal limb development | anomaly in the formation of the limbs |
| abnormal optic cup morphology | any structural anomaly of double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye |
| abnormal postnatal subventricular zone morphology | any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells |
| abnormal spinal cord central canal morphology | any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults |
| abnormal neural tube ventricular layer morphology | any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen |
| abnormal embryo development | anomaly in the establishment of the characteristic configuration of the embryonic body |
| increased hemangioblast number | increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands |
| small heart | reduced size of the heart relative to average |
| abnormal hindbrain development | anomaly in the formation or pattering of the caudal region of the brain |
| abnormal primitive node morphology | any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo |
| absent nasal placodes | absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose |
| absent optic vesicle | absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop |
| kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| abnormal cervical vertebrae morphology | any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull |
| sirenomelia | A developmental defect in which the legs are fused together. |
| abnormal cervical axis morphology | any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates |
| embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| belly spot | the appearance of a round area of white fur on the belly |
| diluted coat color | a coat color that appears lighter in intensity or paler than normal |
| atelectasis | Collapse of part of a lung associated with absence of inflation (air) of that part. |
| rib fusion | Complete or partial merging of adjacent ribs. |
| abnormal vertebral body morphology | any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| abnormal supraoccipital bone morphology | any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young |
| abnormal sphenoid bone morphology | any structural anomaly of the irregularly shaped bone of the base of the skull |
| abnormal basisphenoid bone morphology | any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone |
| spina bifida occulta | The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. |
| absent cartilage | absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life |
| abnormal otic vesicle development | anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear |
| abnormal alisphenoid bone morphology | any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young |
| abnormal aortic arch morphology | any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery |
| interrupted aortic arch | Non-continuity of the arch of aorta with an atretic point or absent segment. |
| abnormal presphenoid bone morphology | any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult |
| abnormal pterygoid process morphology | any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes |
| abnormal palatine bone horizontal plate morphology | any structural anomaly of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate |
| small vertebral body | decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| short vertebral body | reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| abnormal fourth pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis |
| abnormal third pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis |
| abnormal bone ossification | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| gonial bone hypoplasia | underdevelopment or reduced size of the investing bone that lies on the surface of the malleus, usually due to reduced cell number |
| malleus hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the largest of the three auditory ossicles, which resembles a club or hammer |
| ventricular septal defect | A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. |
| aortic arch coarctation | a congenital focal constriction of the aortic arch |
| absent soft palate | absence of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult |
| ectopic Purkinje cell | Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum |
| abnormal cerebellum morphology | |
| abnormal cerebellum external granule cell layer morphology | any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells |
| abnormal cerebellum vermis morphology | any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei |
| abnormal cerebellar granule cell morphology | any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites |
| absent primordial germ cells | absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge |
| absent Rathke's pouch | absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed |
| abnormal epidermal layer morphology | any structural anomaly of the superficial epithelial portion of the skin |
| short tail | reduced length of tail compared to control |
| abnormal placenta development | malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother |
| abnormal limb bud morphology | any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs |
| abnormal nervous system development | impaired or altered growth of the components of the nervous system |
| caudal body truncation | caudal part of body truncated; typically with the rostral portion of the body relatively normal |
| notochord degeneration | retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues) |
| bleb | A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions. |
| abnormal head shape | any anomaly in the characteristic surface outline or contour of a head of an organism |
| delayed heart development | late onset of the induction and/or differentiation of the heart |
| abnormal pericardial cavity morphology | any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities |
| abnormal forelimb bud morphology | any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species) |
| absent hindlimb buds | absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) |
| abnormal prechordal plate morphology | any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue |
| absent primitive node | absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo |
| abnormal posterior primitive streak morphology | any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm |
| thin tail | a tail with a smaller diameter than normal |
| abnormal tail bud morphology | anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development |
| abnormal sacral vertebrae morphology | any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae |
| decreased rib number | fewer than normal numbers of the pairs of bony structures that make up the body wall |
| fusion of vertebral arches | improper union of the dorsal part of adjacent vertebra |
| incomplete caudal neuropore closure | incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed |
| increased erythroid progenitor cell number | greater numbers of progenitors of the erythrocyte lineage |
| increased hepatocyte apoptosis | increase in the number of hepatocytes undergoing programmed cell death |
| abnormal melanoblast morphology | any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell |
| abnormal eye pigmentation | change in the normal pigmentation of the eye to another color, or lack of color |
| decreased body size | smaller than average body weight, height and/or length of an organism compared to controls |
| abnormal larynx morphology | any structural anomaly of the organ of voice production located between the pharynx and the trachea |
| abnormal middle ear morphology | any structural anomaly of any components of the tympanic cavity or its ossicles |
| abnormal rib morphology | any structural anomaly of the bones forming the bony wall of the chest |
| short premaxilla | reduced length of the anterior and interior portion of the maxilla |
| abnormal nasal mucosa morphology | any structural anomaly of the mucous membrane that lines the nasal cavity |
| abnormal cochlea morphology | any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound |
| absent endolymphatic duct | missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac |
| abnormal neurocranium morphology | any structural anomaly of the bones of the skull enclosing the brain |
| abnormal nasal bone morphology | any structural anomaly of either of two rectangular bone plates forming the bridge of the nose |
| small trigeminal ganglion | reduced size of the trigeminal ganglion |
| abnormal molar morphology | any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface |
| abnormal lacrimal bone morphology | any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla |
| abnormal occipital bone morphology | any structural anomaly of the bone at the lower, posterior part of the skull |
| abnormal tooth mineralization | abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum |
| abnormal premaxilla morphology | any structural anomaly of the anterior and inner portion of the maxilla |
| abnormal incisor morphology | any structural anomaly of the teeth, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw |
| decreased cochlear coiling | a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns |
| decreased lateral semicircular canal size | small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance |
| absent posterior semicircular canal | absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| absent superior semicircular canal | absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| abnormal external auditory canal morphology | any structural anomaly of the canal that connects the outer and middle ear |
| abnormal axon extension | abnormality in the ability of an axon to exhibit long distance growth of a single axon process from a neuron cell body involved in cellular development |
| abnormal molar crown morphology | any structural anomaly of the part of a molar that is covered by enamel |
| abnormal tongue muscle morphology | any structural anomaly of the muscular portion of the tongue |
| abnormal pterygoid muscle morphology | any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side |
| small interparietal bone | reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| abnormal pterygoid bone morphology | any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull |
| small nasal bone | reduced size of either of two rectangular bone plates forming the bridge of the nose |
| turbinate hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the small curved bones that extends horizontally along the lateral wall of the nasal passage |
| otic capsule hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilage or bony capsule surrounding the inner ear mechanism |
| small maxilla | reduced size of the upper bony framework of the mouth where the superior teeth are held |
| abnormal mandibular coronoid process morphology | any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle |
| abnormal mandibular condyloid process morphology | any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint |
| abnormal stapedial artery morphology | any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood |
| small malleus processus brevis | reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane |
| cleft primary palate | |
| abnormal lateral nasal prominence morphology | any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it |
| absent vomeronasal organ | lacking the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system |
| short Meckel's cartilage | length reduction or truncation of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments |
| ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| small lacrimal bone | reduced size of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla |
| short lower incisors | reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw |
| short upper incisors | reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw |
| abnormal mylohyoid muscle morphology | any structural anomaly of the flat and triangular paired muscle that runs from the mandible to the hyoid bone forming the muscular floor of the oral cavity of the mouth; it is a suprahyoid muscle derived from the first pharyngeal arch that is situated immediately superior to the anterior belly of the digastric muscle |
| deviated nasal septum | Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. |
| short nasal septum | Reduced superior to inferior length of the nasal septum. |
| frontonasal prominence hypoplasia | decrease in the number of normal cells in normal arrangement in the frontonasal prominence, typically resulting in decreased size |
| abnormal tegmen tympani morphology | any structural anomaly of the thin plate of bone which separates the middle ear (tympanic) cavity from the dura of the middle cranial fossa and forms the roof of the middle ear cavity; it is formed in part by the petrous portion of the temporal bone, and the squamous portion of the temporal bone |
| abnormal outer ear cartilage morphology | any structural anomaly of the elastic cartilage components of the auricles and/or external acoustic meatus |
| abnormal superior horn of thyroid cartilage morphology | any structural anomaly of either of a pair of upward projections from the posterior border of the thyroid cartilage; it is long and narrow, directed upward, backward, and medialward, and ends in a conical extremity, which gives attachment to the lateral hyothyroid ligament |
| abnormal sexual interaction | altered initiation, failure of initiation or incomplete mating behavior |
| hyperactivity | |
| abnormal inner ear morphology | any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea |
| circling | repeated movement in a circle; often associated with inner ear defects |
| reduced female fertility | reduced ability of female to produce live offspring |
| reduced male fertility | reduced ability of male to produce live offspring |
| abnormal membranous labyrinth morphology | any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear |
| head tossing | repetitive flailing of the head in multiple directions |
| abnormal cochlear sensory epithelium morphology | any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals |
| abnormal bony labyrinth | any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended |
| inner ear cyst | presence of one or more abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea |
| abnormal otic capsule development | any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone |
| abnormal rhombomere 4 morphology | any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal rhombomere 5 morphology | any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal cell proliferation | anomaly in the ability of the a cell population to undergo expansion by cell division |
| decreased hepatocyte number | fewer than normal number of parenchymal liver cells |
| decreased brain size | |
| small dorsal root ganglion | reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column |
| decreased fetal size | smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) |
| enlarged fourth ventricle | increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space |
| right pulmonary isomerism | anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body |
| abnormal heart position or orientation | the heart is displaced from the normal left-sided position and/or orientation |
| abnormal eye muscle morphology | any structural anomaly of the muscles of the eye |
| cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| microphthalmia | |
| abnormal pupil morphology | any structural anomaly of the central circular aperture of the iris through which light rays enter the eye |
| malocclusion | |
| abnormal placement of pupils | |
| anisocoria | Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. |
| misaligned incisors | abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors |
| enlarged heart | |
| abnormal atrioventricular valve morphology | any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles |
| abnormal heart atrium morphology | any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation |
| abnormal vena cava morphology | any structural anomaly of either of the two largest veins in the body |
| abnormal ventral body wall morphology | any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity |
| abnormal eye muscle development | malformation or arrest of differentiation of the muscles of the eye |
| abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas |
| delayed optic fissure closure | late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk |
| abnormal adenohypophysis development | aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke's) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia |
| abnormal Rathke's pouch development | any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| abnormal Rathke's pouch apoptosis | any change in the timing or number of Rathke's pouch cells undergoing programmed cell death |
| increased corneal epithelium thickness | increase in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea |
| absent palatine bone horizontal plate | missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate |
| abnormal multipotent stem cell morphology | any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions |
| small kidney | reduced physical bulk one or both of the organs responsible for urine secretion |
| absent supraoccipital bone | absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young |
| small exoccipital bone | reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young |
| small basioccipital bone | reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young |
| absent palatine bone | absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits |
| small mandible | reduced size of the lower bony framework of the mouth where the inferior teeth are held |
| small Meckel's cartilage | reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments |
| abnormal cornea morphology | any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure |
| abnormal atrioventricular cushion morphology | any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum |
| abnormal rib development | anomalous formation of the bones forming the bony wall of the chest |
| abnormal digestive system development | abnormal formation of the organ system that converts ingested food to nutrients and energy |
| abnormal fetal atrioventricular canal morphology | any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum |
| enophthalmos | |
| abnormal thoracic cage morphology | any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum |
| splayed ribs | any deviation from the normal curvature of the ribs such that the ribs are turned outward |
| enlarged heart left atrium | increased size of the left upper chamber of the heart |
| common atrium | Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. |
| heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
| abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| common atrioventricular valve | the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation |
| absent extraocular muscles | missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid |
| abnormal embryo turning | atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region |
| absent myocardial trabeculae | absence of the supporting bundles of muscular fibers lining the walls of the heart |
| absent atrioventricular cushions | absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal |
| abnormal pharyngeal arch morphology | any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears |
| failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| otic vesicle hypoplasia | underdevelopment of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear, usually due to a reduction in cell number |
| abnormal fetal cardiomyocyte morphology | any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes |
| absent Wolffian ducts | absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male |
| decreased somite size | reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo |
| failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality |
| small frontonasal prominence | reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout |
| absent heartbeat | lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus) |
| abnormal spinal nerve morphology | any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment |
| abnormal cervical atlas morphology | any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head |
| asymmetric sternocostal joints | loss of bilateral symmetry in rib attachments to the sternum |
| fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| absent odontoid process | absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates |
| abnormal vertebral artery morphology | any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck |
| delayed somite formation | late onset of the induction and/or differentiation of the somites |
| hydroureter | The distention of the ureter with urine. |
| bifid ureter | Incomplete duplication of the ureter. |
| abnormal Wolffian duct morphology | any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male |
| duplex kidney | a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally |
| abnormal mesonephros morphology | any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop |
| ectopic ureteric bud | ureteric bud(s) are not located in the normal or expected position |
| ectopic testis | one or both of the testes located outside the normal pathway of descent into the scrotum |
| ectopic ureter | an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract; commonly a result of a duplicated renal collecting system, a duplex kidney with two ureters where usually one ureter terminates at the urinary bladder, while the duplicated ureter being ectopic, ends in the vagina, the urethra or the vulval vestibule |
| ectopic ovary | one or both of the ovaries located outside the normal pathway of descent from the lumbar region to a shallow depression on the lateral wall of the pelvis known as the ovarian fossa; the fossa usually lies beneath the external iliac artery and in front of the ureter and the internal iliac artery; ovarian maldescent may be associated with Mullerian malformations |
| blind ureter | a ureter ending in a blind-ended segment or pouch |
| abnormal left-right axis patterning | anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ |
| wavy neural tube | undulations in the embryonic neural tube |
| abnormal forebrain development | anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| abnormal midbrain development | anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo |
| absent embryonic cilia | absence of cilia on the cells of the embryonic node |
| abnormal direction of heart looping | deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes |
| broad limb buds | increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs |
| abnormal lens morphology | any structural anomaly of the transparent structure of the eye responsible for focusing light rays |
| abnormal optic nerve morphology | |
| abnormal retina morphology | any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors |
| abnormal anterior eye segment morphology | any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) |
| abnormal retina pigment epithelium morphology | any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules |
| abnormal eye anterior chamber morphology | any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| abnormal corneal epithelium morphology | any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea |
| abnormal lens epithelium morphology | any structural anomaly in the one or more of the layers of epithelial cells in the lens |
| abnormal retina photoreceptor layer morphology | any structural anomaly of the photoreceptor layer |
| delayed eyelid fusion | later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye |
| abnormal endoderm development | any abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm gives rise to the epithelial lining of the gastrointestinal and respiratory tracts; the parenchyma of the tonsils, the liver, the thymus, the thyroid, the parathyroids, and the pancreas; the epithelial lining of the urinary bladder, urethra, and prostate; and the epithelial lining of the tympanic cavity, tympanic antrum, and auditory tube |
| abnormal extraembryonic endoderm formation | malformation of the endoderm of the extraembryonic tissue that appears prior to gastrulation and performs critical functions during embryogenesis including nutrient uptake and transport from the mother to the embryo |
| absent mesoderm | absence of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities |
| embryonic lethality between implantation and somite formation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| abnormal apoptosis | excessive or absent cell death in a particular tissue or cell type |
| abnormal heart tube morphology | any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart |
| abnormal myocardial fiber morphology | any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| failure of primitive streak formation | inability to form the epiblast ridge from which arises the germ layers of the embryo |
| mydriasis | Abnormal dilatation of the iris. |
| decreased pulmonary ventilation | reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment |
| impaired pupillary reflex | |
| abnormal ciliary ganglion morphology | any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve |
| abnormal caput epididymis morphology | any structural anomaly of the head of the epididymis |
| abnormal Sertoli cell morphology | any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis |
| epididymis degeneration | pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| abnormal brain commissure morphology | any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain |
| decreased circulating growth hormone level | less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization |
| abnormal olfactory nerve morphology | any structural anomaly of the first cranial nerve, which conveys the sense of smell |
| abnormal optic vesicle formation | anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop |
| abnormal submandibular gland morphology | any structural anomaly of either of the large major salivary glands situated beneath the mandible |
| abnormal olfactory epithelium morphology | any structural anomaly of the epithelial cells that line the interior of the nose |
| submandibular gland hypoplasia | underdevelopment or reduced size of either of the large major salivary glands situated beneath the mandible, usually due to reduced cell number |
| small allantois | reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels |
| abnormal extraembryonic mesoderm development | malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk |
| abnormal hindgut morphology | any structural anomaly of the caudal portion of the primitive digestive tube of the embryo |
| absent midgut | absence of the portion of the embryonic gut between the foregut and the hindgut |
| poor circulation | insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin |
| abnormal geniculate ganglion morphology | any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve) |
| abnormal petrosal ganglion morphology | any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve |
| abnormal glossopharyngeal nerve morphology | any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion |
| abnormal hypoglossal nerve morphology | any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue |
| abnormal vagus nerve morphology | any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis |
| small superior vagus ganglion | reduced size of the upper ganglion of the vagus nerve located at the jugular foramen |
| abnormal cochlear ganglion morphology | any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) |
| abnormal ventral spinal root morphology | any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves |
| abnormal heart morphology | Any structural anomaly of a heart. |
| absent adrenergic chromaffin cells | absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion |
| abnormal stomach epithelium morphology | any structural anomaly of the epithelial layer of the stomach |
| abnormal myocardial trabeculae morphology | any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart |
| abnormal cranial ganglia morphology | any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves |
| abnormal cerebellar plate morphology | any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium |
| abnormal pancreas morphology | |
| thin atrioventricular cushion | reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal |
| abnormal brain ventricular system morphology | any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system |
| abnormal hindbrain morphology | any structural anomaly of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata |
| abnormal midbrain morphology | any structural anomaly associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes |
| abnormal enteric ganglia morphology | any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons |
| abnormal choroid plexus morphology | any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF |
| abnormal pontine flexure morphology | any structural anomaly of the dorsally concave bend of the embryonic rhombencephalon that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and myelencephalon in the embryo |
| small nodose ganglion | reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) |
| small petrosal ganglion | reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve |
| decreased Schwann cell number | fewer than normal number of cells that sheath the axons of the peripheral nervous system |
| decreased Purkinje cell number | fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex |
| abnormal embryonic neuroepithelial layer differentiation | abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells |
| cerebellum hypoplasia | |
| absent cerebellum vermis | missing narrow middle zone between the two hemispheres of the cerebellum |
| abnormal cerebral aqueduct morphology | any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles |
| abnormal neuronal migration | any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature |
| atrioventricular valve regurgitation | the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation |
| abnormal glial cell morphology | any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons |
| abnormal cranial flexure morphology | any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo |
| abnormal neocortex morphology | any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers |
| abnormal cardiac epithelial to mesenchymal transition | anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum |
| absent trabeculae carneae | missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart |
| absent mandibular nerve | missing third division of the trigeminal nerve |
| barrel chest | |
| decreased body height | decreased shoulder to floor distance compared to controls |
| axial skeleton hypoplasia | underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number |
| absent spleen | |
| abnormal vertebral body development | anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch |
| abnormal intervertebral disk morphology | any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae |
| small vertebrae | reduced size of the bony segments of the spinal column |
| short vertebral column | decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| abnormal thoracic cavity morphology | any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway |
| short snout | |
| postnatal growth retardation | Slow or limited growth after birth. |
| ocular hypertelorism | increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes |
| abnormal Schwann cell morphology | any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons |
| abnormal sciatic nerve morphology | any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity |
| decreased total body fat amount | less than the normal total amount of connective tissue composed of fat cells within the entire body |
| abnormal apical ectodermal ridge morphology | any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme |
| abnormal mouth floor morphology | any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth |
| lower jaw to upper jaw transformation | homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures |
| abnormal pharynx morphology | any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus |
| abnormal bronchus morphology | any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea |
| small stomach | reduced size of the stomach |
| tracheoesophageal fistula | An abnormal connection (fistula) between the esophagus and the trachea. |
| absent tracheal cartilage rings | absence of the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea |
| abnormal branching involved in lung morphogenesis | anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized |
| abnormal digestive system physiology | any functional anomaly of the organ system that converts ingested food to nutrients and energy |
| abnormal testis morphology | any structural anomaly of the male reproductive glands |
| abnormal primary sex determination | aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex |
| abnormal small intestine morphology | any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum |
| testis hypoplasia | |
| abnormal cecum morphology | any structural anomaly of the large sac at the ileum and large intestine junction |
| cyanosis | A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
| ovotestis | A hermaphrodite gonad (as in some scale insects). |
| primary sex reversal | gonad type is not consistent with chromosomal sex |
| dilated heart atrium | the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid |
| abnormal Sertoli cell development | anomalous differentiation of cells that support germ cell differentiation in males |
| abnormal small intestine crypts of Lieberkuhn morphology | any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands |
| epididymis hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| dilated heart ventricle | the luminal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid |
| abnormal testis cord formation | any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords |
| disorganized testis cords | derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence |
| decreased number of peritubular myoid cells | reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule |
| abnormal mesenchymal cell proliferation involved in lung development | anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung |
| abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development comprises two sequential but overlapping cell lineages known as the fetal and adult type LC populations, which display distinct functional characteristics reflected by different morphology, hormonal regulation, and steroidogenic output |
| abnormal eye morphology | A structural anomaly of the eye. |
| abnormal postnatal growth/weight/body size | increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth |
| arrest of tooth development | failure of differentiation of the teeth |
| abnormal interatrial septum morphology | any structural anomaly of the thin membranous structure between the two heart atria |
| spleen hypoplasia | |
| irregularly shaped pupil | shape defects in the aperture of the iris through which light rays enter the eye, usually circular |
| failure of atrioventricular cushion closure | failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices |
| dextrocardia | |
| omphalocele | A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. |
| right atrial isomerism | Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. |
| abnormal superior vena cava morphology | any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart |
| absent corneal endothelium | absence of the single layer of large flattened cells that cover the surface of the cornea |
| absent coronary sinus | absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium |
| anomalous pulmonary venous connection | abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery |
| abnormal truncus arteriosus septation | anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development |
| absent eye anterior chamber | absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| prolonged QRS complex duration | increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart |
| abnormal hair growth | absence or reduced amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern |
| decreased body weight | |
| tremors | repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement |
| abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| delayed eyelid opening | late average time for the first postnatal eye opening |
| blepharoptosis | |
| abnormal sensory neuron innervation pattern | any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord |
| abnormal sympathetic ganglion morphology | any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia |
| absent superior cervical ganglion | lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck |
| small superior cervical ganglion | reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck |
| hypoalgesia | decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) |
| dorsal root ganglion hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia |
| abnormal craniofacial morphology | any structural anomaly of the face or head affecting appearance |
| abnormal snout morphology | any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions |
| abnormal eyelid morphology | any structural anomaly of the skin folds covering the front of the eyeball |
| absent mandible | missing the lower bony framework of the mouth where the inferior teeth are held |
| abnormal eye distance/ position | abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures |
| abnormal vomeronasal organ morphology | any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum |
| abnormal inferior colliculus morphology | any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements |
| abnormal oculomotor nerve morphology | any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation |
| abnormal trochlear nerve morphology | any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye |
| abnormal trigeminal V mesencephalic nucleus morphology | any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve |
| abnormal sclera morphology | any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea |
| abnormal extraocular muscle morphology | any structural anomaly of any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi |
| aniridia | OMIM mapping confirmed by DO. [SN]. |
| small cranium | reduced size of the cranium |
| retina pigment epithelium hyperplasia | increase in the number of normal cells in normal arrangement in the retinal pigment epithelium, typically resulting in increased size |
| aphakia | absence of the crystalline lens of the eye |
| absent olfactory bulb | absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex |
| abnormal retina layer morphology | any structural anomaly of any of the layers that make up the retina |
| abnormal adenohypophysis morphology | any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus |
| basisphenoid bone foramen | the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone |
| absent nasal septum | absence of the structure that separates the two nasal cavities |
| absent mandibular coronoid process | absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) |
| absent nasal capsule | absence of the cartilage around the developing nasal cavity of the embryo |
| absent choroid plexus | absence of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain |
| acephaly | congenital absence of the head |
| absent tongue | absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| abnormal midbrain-hindbrain boundary morphology | any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate |
| absent cornea | absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure |
| decreased embryonic neuroepithelium thickness | reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells |
| ethmocephaly | the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain; ethmocephaly presents with a proboscis situated above hypoteloric orbits in the midline, microphthalmos, absent nasal structures (arrhinia) and lowset malformed ears |
| absent orbitosphenoid bone | missing the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young |
| absent nasopharynx | failure to form the section of the pharynx that lies above the soft palate |
| situs inversus | OMIM mapping confirmed by DO. [LS]. |
| heterotaxia | abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis |
| abnormal motile primary cilium morphology | any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization |
| absent nodal flow | absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur |
| muscle spasm | an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions |
| abnormal reflex | anomaly in an involuntary response to a peripheral stimulus |
| abnormal humerus morphology | any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below |
| abnormal thoracic vertebrae morphology | any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae |
| camptodactyly | The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. |
| abnormal deltoid tuberosity morphology | any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches |
| sacral vertebral transformation | homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae |
| thoracic vertebral transformation | homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae |
| split xiphoid process | |
| increased sternebra number | increased average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| abnormal eating behavior | Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. |
| weakness | state of being infirm or less strong than normal |
| small lens | reduced size of the transparent structure of the eye responsible for focusing light rays |
| abnormal corneal endothelium morphology | any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea |
| increased cornea thickness | increased width of the cornea in the center plane |
| blood vessel congestion | obstruction of the normal flux of blood within the blood vessel network |
| abnormal motor neuron morphology | Any structural anomal that affects the motor neuron. |
| abnormal cranial nerve morphology | any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves |
| abnormal glossopharyngeal ganglion morphology | any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve |
| abnormal nodose ganglion morphology | any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) |
| abnormal vagus ganglion morphology | any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve |
| abnormal parasympathetic ganglion morphology | any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen |
| absent trigeminal nerve | lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular |
| abnormal medulla oblongata morphology | any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate |
| abnormal autonomic nervous system morphology | A structural abnormality of the autonomic nervous system. |
| abnormal carotid body morphology | any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control |
| abnormal locus ceruleus morphology | any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic |
| abnormal noradrenaline level | aberrant amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| abnormal area postrema morphology | any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology; in addition, the area postrema is the location of the chemotoxic trigger zone at which emesis (vomiting) is induced by various toxins in the blood stream and that affect the hypothalamus to induce taste aversion |
| absent facial nerve | absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue |
| microcephaly | OMIM mapping confirmed by DO. [SN]. |
| abnormal intestine morphology | any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions |
| abnormal stomach morphology | any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food |
| decreased body length | decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction |
| anencephaly | |
| abnormal inner ear vestibule morphology | any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear |
| disorganized retina layers | derangement of the pattern of the sheets of cells comprising the optic part of the retina |
| abnormal cochlear hair cell morphology | any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve |
| abnormal exocrine pancreas morphology | any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes |
| abnormal bile duct development | incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines |
| abnormal vestibular saccule morphology | any structural anomaly of the smaller of the two sacs in the vestibule |
| abnormal utricle morphology | any structural anomaly of the larger of the two sacs in the vestibule |
| absent gallbladder | A developmental defect in which the gallbladder fails to form. |
| abnormal pancreas development | anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream |
| increased vestibular hair cell number | increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve |
| increased cochlear inner hair cell number | increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti |
| increased cochlear outer hair cell number | increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti |
| abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose |
| abnormal cystic duct morphology | any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct |
| increased solitary pulmonary neuroendocrine cell number | increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis |
| increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors |
| decreased club cell number | reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium |
| everted embryonic neuroepithelium | an inside-out appearance of the embryonic neuroepithelium characteristic of defective primary neurulation resulting from failure of neural fold elevation; everted neural folds assume a convex instead of a concave morphology and fail to bend toward each other and fuse at the dorsal midline leading to exencephaly |
| abnormal neuron morphology | A structural anomaly of a neuron. |
| abnormal Muller cell morphology | any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements |
| abnormal retina photoreceptor morphology | any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina |
| abnormal eye physiology | A functional anomaly of the eye. |
| abnormal retina outer nuclear layer morphology | any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones |
| abnormal photoreceptor outer segment morphology | any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin |
| abnormal cone electrophysiology | any functional anomaly of light adapted vision mediated by the cones |
| abnormal rod electrophysiology | any functional anomaly of dark adapted vision mediated by the rods |
| abnormal small intestine placement | different location or arrangement of the small intestinal tract |
| increased circulating glucose level | greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source |
| absent pancreas | absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream |
| liver cyst | |
| kidney cyst | presence of one or more abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion |
| abnormal radius morphology | any structural anomaly of the short bone of the lateral forearm |
| abnormal ulna morphology | any structural anomaly of the medial and larger of the two bones of the forearm |
| abnormal spine curvature | deviation from the typical S-shape of the spine |
| atrial septal defect | |
| abnormal conotruncal ridge morphology | any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum |
| increased motor neuron number | greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses |
| decreased neuronal precursor cell number | reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons |
| increased neuron number | greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses |
| lordosis | |
| decreased caudal vertebrae number | reduced number of the bony segments of the tail or tail remnant |
| fused dorsal root ganglion | loss of DRG spacing pattern and the appearance of two or more ganglia as one |
| abnormal somite size | atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo |
| abnormal sclerotome morphology | any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae |
| vertebral fusion | A developmental defect leading to the union of two adjacent vertebrae. |
| abnormal rostral-caudal patterning of the somites | anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body |
| abnormal brain ependyma morphology | any structural anomaly of the cellular membrane that lines the brain ventricles |
| abnormal presomitic mesoderm morphology | any structural anomaly of the unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form |
| abnormal somite border morphology | any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap |
| abnormal multifidus muscle morphology | any structural anomaly in the small, triangular muscular and tendinous bundles located on either side of the spinal column that fill the groove between the transverse and spinous processes of the vertebrae |
| abnormal gland morphology | any structural anomaly of an organ that functions as a secretory or excretory organ |
| abnormal gland physiology | any functional anomaly of an organ that functions as a secretory or excretory organ |
| infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| abnormal hypothalamus secretion | altered ability of the hypothalamus to produce or release biologically active substances |
| abnormal pituitary secretion | anomaly in the production and/or release of biologically active substances from pituitary tissue |
| decreased leukocyte cell number | |
| decreased neutrophil cell number | |
| decreased lymphocyte cell number | fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells |
| small pituitary gland | An abnormally decreased size of the pituitary gland. |
| abnormal thermosensation | defect in the ability to sense or display a preference for a given temperature |
| abnormal long bone epiphyseal ossification zone morphology | any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited |
| small adenohypophysis | reduced size of the anterior part of the pituitary that secretes a variety of hormones |
| decreased somatotroph cell number | reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin |
| decreased lactotroph cell number | reduced number of an acidophilic cell of the anterior pituitary that produces prolactin |
| lethality at weaning, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age |
| decreased testes secretion | reduction in the production and/or release of hormones from testicular tissue |
| decreased ovary secretion | reduction in the production and/or release of hormones from ovarian tissue |
| absent semicircular canals | missing organ of balance; consists of three bony tubes within which the semicircular ducts are located |
| head tilt | condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side |
| abnormal inner ear canal fusion | any structural anomaly or mistiming of the fusion of the canal primordia during development |
| abnormal ear development | developmental anomaly of any of the structures involved in the ear or vestibular system |
| abnormal crista ampullaris morphology | any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass |
| abnormal neural crest cell migration | any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult |
| abnormal salivary gland morphology | any structural anomaly of the saliva-secreting glands of the oral cavity |
| domed cranium | increased curvature to the hemispherical shape of the upper cranial case |
| absent mammary gland | absence of the specialized accessory gland of the skin of mammals that secretes milk |
| absent lungs | absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs |
| thin dermal layer | reduced thickness of the dermis |
| abnormal epidermis stratum basale morphology | any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells |
| thin epidermis | reduced thickness of the superficial epithelial portion of the skin |
| thin skin | Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. |
| translucent skin | skin that is more transparent to light than normal |
| absent eyelids | missing skin folds covering the front of the eyeball when closed |
| abnormal semicircular canal morphology | any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth |
| abnormal rectum morphology | any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus |
| absent forelimb | absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species |
| absent hindlimb | absence of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species |
| abnormal clavicle morphology | any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula |
| abnormal ilium morphology | any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis |
| curly tail | a loop or corkscrew-like curl in the tail |
| abnormal endolymphatic duct morphology | any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac |
| abnormal perineum morphology | any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm |
| abnormal vestibulocochlear ganglion morphology | any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia |
| abnormal pituitary gland development | malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin |
| small otic vesicle | reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear |
| small scapula | reduced size of either or both of the large, flat bones of the back part of the shoulder |
| absent acromion | lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder |
| small otic capsule | reduced size of the cartilage or bony capsule surrounding the inner ear mechanism |
| abnormal ischium morphology | any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis |
| caudal vertebral fusion | the union of one or more caudal vertebrae into a single structure in species where this does not normally occur |
| absent pubis | absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis |
| absent adenohypophysis | absence of the anterior part of the pituitary that secretes a variety of hormones |
| abnormal cecum development | malformation or aberrant differentiation of the large sac at the ileum and large intestine junction |
| absent rectum | absence or loss of the terminal portion of the intestinal tube adjacent to the anus |
| cecal atresia | congenital blockage or absence of the lumen of the cecum |
| impaired branching involved in trachea morphogenesis | partial or complete failure of the process in which the two main branches of the trachea is generated and organized |
| absent hypodermis muscle layer | absence of the skeletal muscle layer in the superficial fascia |
| decreased skin pigmentation | visually detectable dilution of pigment present in the skin |
| abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud |
| abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor |
| premature squamoparietal suture closure | early closure of the squamoparietal suture of the skull |
| perineal hypospadia | a form of male hypospadia where the scrotum is abnormally divided (bifid) and the male urethral opening is located in the perineal region along the center of the divided sac |
| abnormal submandibular duct morphology | any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue |
| abnormal ear pigmentation | anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment |
| abnormal coat/hair pigmentation | irregular or unusual pigmentation of the hair |
| reduced fertility | diminished ability to produce live offspring |
| abnormal organ of Corti morphology | any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla |
| abnormal stria vascularis morphology | any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions |
| cochlear ganglion degeneration | loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain |
| abnormal otolith morphology | any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane) |
| abnormal tectorial membrane morphology | any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals |
| enlarged otoliths | increased average size of the crystalline calciferous particles adhering to the otolithic membrane |
| vestibular hair cell degeneration | degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve |
| thin stria vascularis | reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph |
| abnormal stria vascularis vasculature morphology | any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear |
| abnormal cochlear outer hair cell morphology | any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane |
| abnormal kidney morphology | |
| abnormal lung morphology | any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs |
| adactyly | The absence of all phalanges of all the digits of a limb and the associated soft tissues. |
| absent vertebrae | |
| decreased motor neuron number | fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses |
| decreased spinal cord size | smaller appearance of the spinal cord |
| absent floor plate | absence of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube |
| abnormal telencephalon morphology | any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon |
| cyclopia | Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. |
| absent fibula | absence of the lateral and shorter of the two bones of the lower leg |
| abnormal dorsal-ventral axis patterning | anomaly in the development or formation of the axis that runs from the front to the back surface of the body |
| abnormal spinal cord interneuron morphology | any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord |
| fetal growth retardation | slow or limited development during the fetal period (sensu Mus: from E14 through birth) |
| abnormal optic stalk morphology | any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain |
| abnormal nasal pit morphology | any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes |
| decreased midbrain size | size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes |
| absent diencephalon | absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex |
| abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it |
| abnormal cerebellar molecular layer | any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells |
| increased hemangiosarcoma incidence | |
| increased medulloblastoma incidence | greater than the expected number of a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin, occurring in a specific population in a given time period |
| increased gastrointestinal tumor incidence | greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period |
| persistence of notochord tissue | failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen |
| absent right lung accessory lobe | absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax |
| abnormal ventral interneuron 3 morphology | any structural anomaly of the ventral interneurons that are glutamatergic, predominantly project contralaterally and caudally, form connections with V1, V2 and lamina VIII interneurons, and are characterized by expression of Nkx2-2, Nkx601, Ngn3, and Sim1 |
| abnormal primitive streak morphology | anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm |
| holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| absent prechordal plate | absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue |
| truncated notochord | notochord morphology that terminates abruptly as if having an end or point cut off |
| abnormal neural fold formation | any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove |
| abnormal anterior visceral endoderm morphology | any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| abnormal stomach position or orientation | the stomach is displaced from the normal left-sided position and/or orientation |
| embryonic lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) |
| absent heart tube | absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart |
| truncated foregut | shortened foregut that terminates abruptly as if having an end or point cut off |
| abnormal head development | anomaly in the process in which the anatomical structures of the head are generated and organized |
| abnormal immune system physiology | deviation from the normal function of the immune system |
| abnormal egg cylinder morphology | any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells |
| empty decidua capsularis | the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells |
| increased cellular sensitivity to gamma-irradiation | increased incidence of cell death following exposure to gamma-irradiation |
| embryonic lethality between implantation and placentation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) |
| absent trophoblast giant cells | missing cells of the extraembryonic cell layer that contribute to the placenta |
| disorganized extraembryonic tissue | a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition |
| abnormal embryonic-extraembryonic boundary morphology | any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues |
| abnormal visceral endoderm morphology | any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut |
| abnormal parietal endoderm morphology | any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm |
| absent egg cylinders | inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure |
| abnormal scapula morphology | any structural anomaly of either or both of the large, flat bones of the back part of the shoulder |
| abnormal myotome development | malformation of or absence of the part of the somite that develops into the musculature |
| skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| pericardial edema | accumulation of watery fluid in the pericardial sac of the heart |
| failure of somite differentiation | disorganized or absent somite tissue or somite pattern in development |
| abnormal frontal bone morphology | any structural anomaly of the bone forming the forehead and roof of the eye orbit |
| midline facial cleft | A congenital malformation with a cleft (gap or opening) in the midline of the face. |
| absent roof plate | absence of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline |
| impaired ossification of basisphenoid bone | anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone |
| abnormal myotome morphology | any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature |
| absent zygomatic bone | absence of the quadrilateral bone that forms the prominence of the cheek |
| fetal bleb | presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood |
| abnormal cranial neural crest cell morphology | any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage |
| acromion hypoplasia | decrease in the number of normal cells in normal arrangement in the acromion, typically resulting in decreased size |
| kidney cortex cyst | presence of one or more abnormal membranous sacs in the kidney cortex |
| kidney medulla cyst | presence of one or more abnormal membranous sacs in the kidney medulla |
| pancreas cyst | presence of one or more abnormal fluid-filled sacs within the pancreas |
| polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| atrioventricular septal defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| abnormal amniotic fluid composition | any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid |
| abnormal CNS synaptic transmission | defect in the communication from a neuron to a target across a synapse in the central nervous system |
| reduced long-term potentiation | less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells |
| abnormal inhibitory postsynaptic potential | defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization |
| abnormal inhibitory postsynaptic currents | defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization |
| decreased brain copper level | a reduced amount of copper in the brain tissue compared to controls |
| abnormal susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component |
| ataxia | |
| impaired coordination | reduced ability to execute integrated movements of muscle |
| Purkinje cell degeneration | a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex |
| decreased susceptibility to prion infection | reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component |
| muscle weakness | Reduced strength of muscles. |
| respiratory distress | |
| abnormal neuromuscular synapse morphology | any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses |
| failure of neuromuscular synapse postsynaptic differentiation | inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse |
| abnormal stationary movement | altered ability or inability to change body posture or shift a body part |
| impaired balance | reduced ability of an animal to maintain equilibrium |
| female infertility | |
| abnormal double-negative T cell morphology | any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8 |
| gliosis | The presence of gliosis in the central nervous system. |
| thin cerebellar molecular layer | reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells |
| jerky movement | continuous, abrupt, faltering motions of the whole body or a portion of the body |
| decreased thymus weight | reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells |
| preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| abnormal motor capabilities/coordination/movement | altered ability to coordinate voluntary movement or repetitive, compulsive movements |
| limb grasping | mice clasp front and/or hind feet almost immediately upon being lifted by tail |
| decreased locomotor activity | general reduction in locomotor activity; reduced movement from one place to another |
| abnormal cerebellar foliation | any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported |
| abnormal Purkinje cell morphology | any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells |
| abnormal olfactory bulb morphology | any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex |
| abnormal cerebellar granule layer morphology | any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border |
| small cerebellum | reduced size of cerebellum |
| small olfactory bulb | reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex |
| abnormal motor learning | anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning |
| abnormal nervous system physiology | any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions |
| abnormal hormone level | aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone |
| abnormal limb posture | atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body |
| decreased cerebellar granule cell number | reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites |
| abnormal olfactory bulb granule cell morphology | any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses |
| abnormal olfactory bulb layer morphology | any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell |
| abnormal olfactory bulb external plexiform layer morphology | any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs |
| abnormal olfactory bulb glomerular layer morphology | |
| abnormal olfactory bulb granule cell layer morphology | |
| abnormal olfactory bulb internal plexiform layer morphology | |
| abnormal olfactory bulb mitral cell layer morphology | |
| abnormal cerebellar layer morphology | any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum |
| decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| abnormal olfactory bulb outer nerve layer morphology | any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia |
| abnormal cochlear VIII nucleus morphology | any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures |
| retarded hair growth | slow growth of the hair, appears at normal time |
| sparse hair | Reduced density of hairs. |
| absent duvet hair | absence of the of the fine under hair of the coat |
| abnormal cerebellar Purkinje cell layer | any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells |
| abnormal excitatory postsynaptic currents | defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization |
| thin cerebellar granule layer | reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells |
| abnormal Purkinje cell dendrite morphology | any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer |
| absent cerebellar granule cells | absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites |
| decreased eye pigmentation | the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism |
| abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| abnormal kidney physiology | |
| postnatal lethality | premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) |
| abnormal muscle physiology | any functional anomaly of the muscle, not due to an anatomical defect |
| muscular atrophy | |
| hindlimb paralysis | loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply |
| progressive muscle weakness | |
| demyelination | |
| abnormal action potential | change in the electric response of a nerve or other excitable tissue to its stimulation |
| abnormal nerve conduction | anomaly in the act of transmitting electricity along a single nerve |
| abnormal endplate potential | defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials |
| abnormal muscle tone | |
| abnormal miniature endplate potential | defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse |
| paraparesis | Weakness or partial paralysis in the lower limbs. |
| head bobbing | repetitive up and down movement of the head |
| abnormal involuntary movement | anomaly in movements that occur independent of planning (e.g. reflexive behavior) |
| abnormal ear morphology | any structural anomaly of any of the structures involved in the ear or vestibular system |
| abnormal sulcus ampullaris morphology | any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest |
| deafness | An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. |
| collapsed Reissner membrane | the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti |
| abnormal organ of Corti supporting cell morphology | any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti |
| absent cochlear hair cells | absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve |
| abnormal interdental cell morphology | any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane |
| increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click |
| abnormal motor coordination/balance | altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium |
| absent organ of Corti supporting cells | absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti |
| absent startle reflex | failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch |
| decreased salivation | |
| remittent intestinal hemorrhage | loss of blood from the intestines that is characterized by temporary periods of abatement |
| spinning | repetitive rolling of the body |
| abnormal colon morphology | any structural anomaly of the portion of the large intestine between the cecum and the rectum |
| small intestinal prolapse | |
| decreased systemic arterial blood pressure | |
| absent tunnel of Corti | complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| abnormal scala media morphology | any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing) |
| abnormal ear physiology | any functional anomaly of the ear, not due to an anatomical defect |
| abnormal strial marginal cell morphology | any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria |
| decreased cochlear inner hair cell number | decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti |
| decreased cochlear outer hair cell number | decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti |
| abnormal auditory brainstem response | anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold |
| absent pinna reflex | complete failure to respond to an auditory stimulus by a characteristic ear twitch |
| coiled cecum | corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction |
| abnormal adrenal gland morphology | any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| abnormal lipid level | any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body |
| increased circulating HDL cholesterol level | higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion |
| abnormal macrophage morphology | any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells |
| increased circulating cholesterol level | |
| abnormal cholesterol homeostasis | |
| dry eyes | |
| abnormal lipid homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues |
| Meibomian gland atrophy | acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| narrow eye opening | |
| abnormal circulating HDL cholesterol level | any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion |
| abnormal cholesterol level | anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| abnormal circulating cholesterol level | anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| abnormal oocyte morphology | any structural anomaly of the mature germ cells in the female |
| macrocytosis | condition in which erythrocytes are larger than normal in size |
| poikilocytosis | The presence of abnormally shaped erythrocytes. |
| abnormal female meiosis | anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell |
| abnormal adrenal gland physiology | any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones |
| impaired fertilization | defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei |
| abnormal cellular cholesterol metabolism | impaired regulation of cellular cholesterol levels |
| failure of zygotic cell division | inability of a fertilized oocyte to initiate or complete early cell divisions |
| increased cholesterol level | greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| abnormal egg activation | any anomaly in the series of biochemical and morphological events that converts a metaphase-II-arrested oocyte into a fertilized egg ready to begin embryogenesis; in most mammals, oocyte activation is a spatial-temporal regulated process induced by sperm entry that involves early events such a transient rise in intracellular calcium concentration, cortical granule exocytosis and meiotic cell-cycle resumption, and later events such as pronuclear formation, translation of maternal mRNAs and meiosis-to-mitosis transition |
| abnormal limb morphology | any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species |
| abnormal bone marrow cavity morphology | any structural anomaly of the medullary cavities of the bones |
| abnormal bone marrow morphology | any structural anomaly of the soft tissue that fills the cavities of bones |
| increased inflammatory response | A abnormal increase in the inflammatory response to injury or infection. |
| osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| abnormal tooth eruption | anomalies in the passage of a tooth through the alveolar process and perforation of the gums |
| decreased compact bone thickness | thinner than normal superficial layer of compact bone |
| absent incisors | |
| failure of tooth eruption | inability of the teeth to grow into the oral cavity |
| delayed endochondral bone ossification | late onset of bone formation in bones that form from cartilage |
| abnormal bone structure | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| abnormal long bone diaphysis morphology | any structural anomaly of the main or mid section (shaft) of a long bone |
| decreased bone resorption | reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts |
| increased long bone epiphyseal plate size | greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles |
| abnormal bone trabecula morphology | any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force |
| increased trabecular bone mass | greater total amount of trabecular bone tissue contained in the skeleton |
| broad face | Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). |
| periodontium inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth) |
| failure to gastrulate | inability to differentiate and invaginate the primary germ layers |
| decreased inner cell mass proliferation | |
| abnormal tail morphology | any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column |
| absent common myeloid progenitor cells | lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages |
| abnormal embryonic hematopoiesis | anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans |
| disorganized yolk sac vascular plexus | derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network |
| abnormal vein morphology | any structural anomaly of the blood vessels that carry blood towards the heart |
| delayed heart looping | late onset of the initiation and/or completion of looping of the primitive heart tube |
| aphagia | failure to eat |
| abnormal skeletal muscle morphology | any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body |
| abnormal intercostal muscle morphology | any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib |
| lowered ear position | outer ears are situated below the normal location often giving the perception of protruding from the head |
| abnormal exoccipital bone morphology | any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young |
| loose skin | condition in which the skin hangs in folds |
| abnormal abdominal wall morphology | any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum |
| absent sclerotome | absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae |
| abnormal paraxial mesoderm morphology | any structural anomaly of the mesoderm located bilaterally adjacent to the notochord and neural tube; on segmentation, paraxial mesoderm forms the paired somites |
| skeletal muscle hypertrophy | The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. |
| absent dermatome | absence of the mesoderm that is derived from the somite that is fated to become the dermis |
| absent pulmonary alveoli | absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries |
| abnormal kidney development | any anomaly in the differentiation of the paired organs responsible for urine secretion |
| renal hypoplasia | Hypoplasia of the kidney. |
| impaired branching involved in ureteric bud morphogenesis | partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney |
| abnormal spleen development | aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets |
| renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| small gonad | |
| abnormal kidney vasculature morphology | any structural anomaly of the network of tubes that carries blood through the organ of excretion |
| abnormal renal glomerulus morphology | any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit |
| abnormal podocyte morphology | any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane |
| abnormal kidney medulla morphology | any structural anomaly of the inner portion of the kidney consisting of the renal pyramids |
| sex reversal | Development of the reproductive system is inconsistent with the chromosomal sex. |
| abnormal ureteric bud morphology | any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue |
| abnormal lung vasculature morphology | any structural anomaly of the blood vessels of the lung |
| decreased renal glomerulus number | reduced number of the capillary loops of the kidney that normally function as a filtration unit |
| abnormal proximal convoluted tubule morphology | any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule |
| abnormal lung epithelium morphology | any structural anomaly of the epithelial layer of the lung |
| abnormal podocyte foot process morphology | any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| absent type II pneumocytes | absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored |
| dilated respiratory conducting tube | expansion or widening of the lumen of one or more of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs |
| abnormal pulmonary alveolar sac morphology | any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters |
| abnormal pulmonary acinus morphology | any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches |
| small lung lobe | reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) |
| abnormal branching involved in ureteric bud morphogenesis | anomaly in the process in which the branching structure of the ureteric bud is generated and organized |
| abnormal kidney mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney |
| impaired branching involved in bronchus morphogenesis | partial or complete failure of the process in which the branched structure of the bronchus is generated and organized |
| impaired branching involved in alveolar sac morphogenesis | partial or complete failure of the process in which the terminal alveolar sacs are generated |
| decreased nephron number | |
| abnormal glomerular capillary morphology | any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus |
| abnormal peritubular capillary morphology | any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure |
| absent proximal convoluted tubule brush border | failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule |
| abnormal ureteric bud tip morphology | any structural anomaly of the terminal ends of the ureteric tree; the ureteric tip cells are proliferating immature cells located at the branching points that induce the adjacent cap mesenchyme to undergo nephrogenesis |
| abnormal ovary topology | any anomaly in the position of the ovary in relation to other structures |
| decreased double-positive T cell number | less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 |
| decreased single-positive T cell number | reduced number of T cells bearing either CD4 or CD8 markers on their surface |
| abnormal thyroid gland morphology | any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin |
| weight loss | Reduction inexisting body weight. |
| abnormal long bone metaphysis morphology | any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults |
| failure of bone resorption | inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts |
| abnormal long bone hypertrophic chondrocyte zone | anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge |
| extramedullary hematopoiesis | The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. |
| decreased circulating insulin level | less than normal levels of insulin in the blood |
| delayed tooth eruption | postponed onset of the growth of the teeth out of the gums |
| decreased insulin secretion | reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids |
| abnormal osteoclast morphology | any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| increased megakaryocyte cell number | greater number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| abnormal predentin morphology | any structural anomaly of the initial type I collagen-rich unmineralized extracellular matrix synthesized and secreted by odontoblasts and located at the dentin-pulp interface; predentin is converted to dentin when hydroxyapatite crystals are deposited on the predentin |
| short limbs | reduced average length of the extremities |
| decreased circulating calcium level | |
| increased bone mineral density | increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size |
| abnormal osteoclast physiology | any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| abnormal bone mineralization | defect in the process by which minerals are deposited into bone |
| rickets | A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. |
| absent compact bone | absence of the outer layers of solid, hard bone that covers spongy bone |
| decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) |
| absent teeth | absence of some or all of the bony structures of the upper and lower jaws used in mastication |
| curly vibrissae | coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| abnormal hair follicle orientation | misaligned hair follicles; hair follicles that do not orient in a typical pattern |
| increased curvature of hairs | greater bending arch of the distinct C- or S- shaped curvature of the hairs |
| waved hair | |
| increased incidence of corneal inflammation | greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea |
| eyelids open at birth | open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness |
| abnormal adipose tissue distribution | alterations in the normal placement of body fat |
| abnormal hair follicle morphology | any structural anomaly of the invagination of the epidermis from which the hair shaft develops |
| kinked vibrissae | sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| corneal scarring | |
| abnormal iris morphology | any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye |
| disheveled coat | coat that looks generally unkempt |
| abnormal eyelid aperture | any anomaly in the normal distance from one eyelid to the other, or closure of the eyes |
| abnormal hair shaft morphology | any structural anomaly of the cuticle, cortex and/or medulla of a hair |
| abnormal hair medulla | anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft |
| absent Descemet membrane | absence of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea |
| ruptured lens capsule | a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens |
| retina neovascularization | formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina |
| abnormal eyelid development | aberrant formation of the skin folds covering the front of the eyeball |
| Meibomian gland hypoplasia | underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells |
| eyelid hyperplasia | overdevelopment or increased size of the skin folds covering the front of the eyeball, usually due to an increased cell number |
| orbicularis oculi muscle hypoplasia | decrease in the number of normal cells in normal arrangement in the orbicularis oculi muscle, typically resulting in decreased size |
| abnormal coat/ hair morphology | any anomaly in the color, structure, growth, or texture of the hair |
| abnormal hair texture | irregular or unusual appearance of the structure of the hair |
| wavy vibrissae | undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| abnormal zigzag hair morphology | any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla |
| abnormal coat appearance | anomaly in the visual apsect of the coat or hair |
| corneal opacity | A reduction of corneal clarity. |
| conjunctivitis | Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis. |
| abnormal corneal stroma development | anomalous differentiation of the lamellated connective tissue layer of the cornea |
| keratoconjunctivitis | |
| abnormal hair follicle development | any anomaly in the development of the epidermis from which the hair shaft develops |
| failure of eyelid fusion | the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse |
| decreased guard hair length | reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla |
| increased corneal stroma thickness | increased width of the lamellated connective tissue layer of the cornea |
| colonic necrosis | morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage |
| gastric necrosis | morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage |
| pancreas inflammation | |
| salivary gland inflammation | |
| atrial endocarditis | inflammation affecting the atrial chambers of the heart |
| abnormal atrial thrombosis | any anomaly in the formation or presence of one or more thrombi in the atria of the heart |
| myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| interstitial pneumonia | |
| cachexia | Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. |
| lymph node inflammation | |
| absent Langerhans cell | absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus |
| phlebitis | A vein disease that is characterized by inflammation of a vein. |
| abnormal placing response | altered ability to stretch and lift the forelimbs and head to grab a close edge |
| cochlear hair cell degeneration | degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve |
| cochlear inner hair cell degeneration | degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti |
| cochlear outer hair cell degeneration | degeneration or loss of the columnar outer hair sensory cells of the organ of Corti |
| abnormal cochlear hair cell stereociliary bundle morphology | any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells |
| abnormal cochlear hair cell development | atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea |
| retropulsion | a tendency to step or walk backwards |
| abnormal lateral semicircular canal morphology | any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance |
| abnormal posterior semicircular canal morphology | any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| abnormal iron level | any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes |
| abnormal intestinal mineral absorption | any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine |
| decreased mean corpuscular volume | less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices |
| microcytosis | the presence of unusually small erythrocytes in the circulating blood |
| decreased mean corpuscular hemoglobin | less than the average levels of hemoglobin contained in an erythrocyte |
| abnormal iron homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes |
| increased erythrocyte cell number | greater number of the cells that transport oxygen, red blood cells, per unit |
| decreased liver iron level | reduction in the amount of iron present in the liver tissue |
| decreased spleen iron level | reduction in the amount of iron present in the spleen tissue |
| decreased erythroid progenitor cell number | reduced numbers of progenitors of the erythrocyte lineage |
| increased T cell derived lymphoma incidence | higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes |
| decreased neuron apoptosis | decrease in the number of neurons undergoing programmed cell death |
| decreased cellular sensitivity to ultraviolet irradiation | reduced incidence of cell death following exposure to ultraviolet irradiation |
| increased sensitivity to induced cell death | decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level |
| increased teratoma incidence | higher than normal incidence of generally benign germ cell-derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor; malignant tumors are highly metatstatic |
| increased hemangioma incidence | greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces |
| abnormal mitochondrial morphology | Any structural anomaly of the mitochondria. |
| gastric polyps | abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach |
| colon polyps | abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon |
| aneuploidy | chromosome count is not an exact multiple of the haploid number |
| increased squamous cell carcinoma incidence | higher than normal incidence of a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix |
| abnormal protein level | anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage |
| increased fibrosarcoma incidence | greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period |
| increased mammary adenocarcinoma incidence | |
| increased leiomyosarcoma incidence | greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period |
| increased leukemia incidence | |
| increased lung adenocarcinoma incidence | |
| abnormal tumor morphology | any structural anomaly of a given tumor type compared to controls |
| intestine polyps | |
| increased pancreas tumor incidence | |
| increased adenocarcinoma incidence | higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern |
| increased histiocytic sarcoma incidence | greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period |
| increased adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy |
| absent lacrimal glands | missing the glands that secrete tears |
| absent sebaceous gland | absence of the holocrine glands of the dermis that secrete sebum into the hair follicles |
| abnormal female reproductive system morphology | any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring |
| absent vibrissae | absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| abnormal esophageal epithelium morphology | any structural anomaly of the epithelial layer that lines the luminal space of the esophagus |
| absent limbs | absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species |
| abnormal forelimb morphology | any structural anomaly of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species |
| absent prostate gland | missing gland in males that secretes part of the seminiferous fluid |
| absent epidermis | missing the epidermal cell layer in the skin |
| absent carpal bone | absence of any or all of the nine nodular bones of the joint between the forelimb bones and the front paws/hands, consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids |
| absent radius | Missing radius bone associated with congenital failure of development. |
| absent tooth placode | missing the local thickening that is normally formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth |
| absent hair follicles | missing epidermal invaginations from which the hair shaft develops |
| abnormal esophageal squamous epithelium morphology | any structural anomaly of the scaly epithelial layer of the esophagus |
| abnormal stomach non-glandular epithelium morphology | any structural anomaly of the squamous epithelium that lines the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); in neonatal and adult mice, this epithelium is stratified, fully keratinized, and devoid of gastric glands |
| abnormal urinary bladder urothelium morphology | any structural anomaly of the epithelial lining of the luminal space of the urinary bladder |
| abnormal uterine cervix epithelium morphology | any structural anomaly of the epithelial layer of the cervix |
| abnormal vagina epithelium morphology | any structural anomaly of the epithelial layer of the vagina |
| absent apical ectodermal ridge | missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme |
| absent urinary bladder urothelium | missing the transitional epithelial layer of the urinary bladder |
| thin urinary bladder urothelium | decrease in the thickness of the transitional epithelial layer of the urinary bladder |
| absent tongue squamous epithelium | missing the scaly epithelial layer of the tongue |
| gastric metaplasia | |
| esophagogastric junction metaplasia | conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach |
| abnormal septation of the cloaca | absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca |
| rectovaginal fistula | The presence of a fistula between the vagina and the rectum. |
| absent ovary | absence of the female reproductive gland containing the germ cells |
| absent oviduct | absence of the tube through which the ova pass from the ovary to the uterus |
| small limb buds | reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs |
| clitoris hypoplasia | |
| abnormal secondary palate development | any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue |
| abnormal prostate gland branching morphogenesis | anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland |
| small tail bud | decreased size or area of the primordial region of the embryo that arises to form the tail of the adult |
| periorbital edema | Edema affecting the region situated around the orbit of the eye. |
| absent Cajal-Retzius cell | the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus |
| rhinitis | A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. |
| chronic inflammation | |
| reduced male mating frequency | males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility) |
| submission towards male mice | no domineering, assault posture nor hostile physical action toward male mice |
| gastrointestinal hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| increased susceptibility to bacterial infection | greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| hydrocephaly | |
| increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| excessive digestive secretion | increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system |
| sinus inflammation | |
| non-obstructive hydrocephaly | |
| abnormal cerebrospinal fluid production | anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord |
| absent enterocytes | absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen |
| intraventricular hemorrhage | bleeding into the brain ventricles |
| abnormal hippocampus morphology | any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation |
| dilated lateral ventricle | the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid |
| abnormal dentate gyrus morphology | any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus |
| abnormal hippocampus development | improper differentiation of the hippocampus |
| abnormal hippocampal mossy fiber morphology | absence or misprojection of axons of neuronal cells in the dentate gyrus |
| abnormal dendrite morphology | any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body |
| abnormal hippocampus CA3 region morphology | |
| distended ileum | an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention |
| abnormal hippocampus neuron morphology | any structural anomaly of one or more neurons residing in the hippocampal region of the brain |
| increased extremity angiosarcoma incidence | higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels |
| increased hepatic hemangioma incidence | greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the liver, occurring in a specific population in a given time period |
| increased lung adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period |
| increased renal cystadenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period |
| increased renal carcinoma incidence | greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period |
| heart hyperplasia | overdevelopment or increased size of the heart, usually due an increased number of cells |
| abnormal heart ventricle morphology | any structural anomaly of one or both of the two lower chambers of the heart |
| abnormal vitamin E level | any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant |
| obese | |
| increased circulating insulin level | |
| abnormal hearing physiology | any functional anomaly in the ability to perceive auditory stimuli |
| retina degeneration | retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function |
| increased circulating triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| organ of Corti degeneration | a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis |
| decreased retina photoreceptor cell number | fewer than the expected number of rods and/or cones |
| abnormal retina vasculature morphology | any anomaly of the structure or arrangement of blood vessels supplying the retina |
| retina deposits | abnormal accumulation of material on the retina |
| abnormal photoreceptor inner segment morphology | any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| degeneration of organ of Corti supporting cells | degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti |
| impaired hearing | reduced ability to perceive auditory stimuli |
| retina photoreceptor degeneration | a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina |
| retina outer nuclear layer degeneration | a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones |
| photoreceptor outer segment degeneration | retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin |
| increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| abnormal electroretinogram waveform feature | any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation |
| increased susceptibility to weight gain | greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake |
| increased susceptibility to age related obesity | increased probability of excessive weight gain that is progressive with age |
| thin retina outer nuclear layer | reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones |
| increased retina apoptosis | increase in the number of cells in the retina undergoing programmed cell death |
| abnormal skeletal muscle fiber morphology | any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles |
| axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| absent vertebral pedicles | loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae |
| absent vertebral transverse processes | loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes |
| absent proximal rib | missing part of rib structures near the spine, ribs do not contact vertebrae |
| small thoracic cavity | reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway |
| asymmetric costovertebral joints | loss of bilateral symmetry in rib attachments to the vertebral column |
| disorganized dorsal root ganglion | loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia |
| fusion of vertebral bodies | improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal |
| decreased cardiac muscle contractility | inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume |
| abnormal cell adhesion | altered ability of a cell to adhere to another cell or to a non-cellular component of the environment |
| decreased myocardial fiber number | decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| absent heart valves | failure to form all of the membranous folds of the heart that prevent reflux of fluid |
| absent brain ventricles | absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| small forelimb buds | reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) |
| small brain ventricles | decreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| abnormal gametogenesis | defective formation or differentiation of germ cells |
| abnormal estrous cycle | failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorbtion of the endometrium if pregnancy does not occur |
| abnormal fertility/fecundity | anomaly in the reproductive capability of an organism or population to produce live offspring |
| abnormal trabecular bone morphology | Abnormal structure or form of trabecular bone. |
| abnormal limb bone morphology | any structural anomaly of the limb or autopod bones |
| abnormal male reproductive system morphology | any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa |
| sparse vibrissae | few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| abnormal spermatogenesis | Incomplete maturation or aberrant formation of the male gametes. |
| abnormal fibula morphology | any structural anomaly of the lateral and smaller bone of the lower limb |
| alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| dermal cyst | presence of one or more abnormal membranous sacs in the dermis |
| abnormal epidermis stratum granulosum morphology | any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis |
| dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| decreased circulating phosphate level | |
| male infertility | |
| decreased bone mineral density | reduction in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size |
| absent mature ovarian follicles | absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle |
| uterus hypoplasia | |
| increased circulating follicle stimulating hormone level | higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| increased circulating luteinizing hormone level | higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary |
| oligozoospermia | disease cluster belonging to disease group reproduction |
| asthenozoospermia | loss or reduction of the mobility of the spermatozoa, frequently associated with infertility |
| abnormal fat-soluble vitamin level | any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body |
| increased circulating alkaline phosphatase level | elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters |
| abnormal skin development | anomaly in the formation of the membranous protective covering of the body |
| decreased susceptibility to autoimmune diabetes | reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| increased testis weight | greater average weight of the male reproductive glands |
| increased osteoblast cell number | greater than average number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| dilated seminiferous tubule | the luminal space of one or more of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid |
| decreased splenocyte proliferation | reduction in the expansion rate of a splenocyte cell population by cell division |
| abnormal blood homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood |
| dilated hair follicle | the luminal space of one or more of the hair follicles is increased in volume or area, sometimes with an increase of contained fluid or sebum |
| abnormal macrophage chemotaxis | anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions |
| decreased intestinal calcium absorption | reduced ability of the body to take up calcium into the blood by absorption from the small intestine |
| abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) |
| flat face | Absence of concavity or convexity of the face when viewed in profile. |
| decreased hair follicle cell proliferation | reduction in the expansion rate of a hair follicle cell population by cell division |
| abnormal vitelline vein morphology | any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo |
| increased embryonic neuroepithelium apoptosis | increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death |
| hepatic steatosis | The presence of steatosis in the liver. |
| vacuolated lens | fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light |
| oligodactyly | A developmental defect resulting in the presence of fewer than the normal number of digits. |
| short fibula | reduced length of the lateral and smaller of bone of the lower leg |
| decreased presacral vertebrae number | reduced number of the vertebrae anterior to the sacrum |
| abnormal Mullerian duct morphology | any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina |
| scapular bone foramen | presence of a hole in either or both of the large, flat bones of the back part of the shoulder |
| abnormal uterus morphology | any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth |
| small uterus | reduced size of the female muscular organ of gestation |
| abnormal oviduct morphology | any structural anomaly of the tube through which the ova pass from the ovary to the uterus |
| abnormal uterus development | abnormal morphogenesis of the female muscular organ of gestation |
| absent ulna | Missing ulna bone associated with congenital failure of development. |
| thin myometrium | reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium |
| short oviduct | length reduction or truncation of the tube through which the ova pass from the ovary to the uterus |
| thin uterus | reduced thickness or depth of the female muscular organ of gestation |
| absent endometrial glands | absence of the simple or branched tubular uterine glands |
| failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males |
| abnormal uterine epithelium development | any anomaly in the progression of an epithelium of the uterus over time from its initial formation to the mature structure |
| abnormal cerebral cortex morphology | any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri; it is responsible for intellectual faculties and higher mental functions |
| seizures | Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. |
| abnormal parental behavior | altered behavior of animals that affects the ability of offspring to survive |
| increased Leydig cell number | increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone |
| abnormal spermiogenesis | anomaly in the process by which a spermatid transforms into a functional spermatozoon |
| seminiferous tubule degeneration | a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs |
| small seminiferous tubules | reduced diameter of the tubules in the testes where spermatogenesis occurs |
| azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| decreased Sertoli cell number | decreased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis |
| abnormal spermatid morphology | any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa |
| nuclear cataract | A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. |
| abnormal skeleton physiology | any functional anomaly of the bony framework of the body |
| fragile skeleton | |
| decreased chondrocyte number | fewer than normal numbers of polymorphic cells that form cartilage |
| small spleen | decreased spleen size |
| small thymus | reduced size of the thymus |
| increased brain size | larger than the normal physical proportions of the brain |
| decreased hematocrit | less than the average percentage of a volume of a blood sample occupied by red blood cells |
| decreased circulating alkaline phosphatase level | reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters |
| enlarged kidney | larger than average size of the kidney |
| decreased circulating insulin-like growth factor I level | reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities |
| abnormal osteoclast differentiation | atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| slow postnatal weight gain | the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults |
| decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| lethargy | A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. |
| abnormal circulating amino acid level | any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group |
| increased circulating ammonia level | |
| short photoreceptor outer segment | decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin |
| oroticaciduria | increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine |
| decreased circulating citrulline level | reduction in the amount per unit of blood of citrulline |
| increased circulating ornithine level | increase in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis |
| decreased circulating ornithine level | reduction in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis |
| decreased circulating arginine level | reduction in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group |
| decreased circulating phenylalanine level | reduction in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin |
| abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
| abnormal rostral-caudal body axis extension | anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established |
| absent limb buds | missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs |
| embryonic lethality between implantation and somite formation, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| small proamniotic cavity | reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds |
| abnormal chondrocyte morphology | any structural anomaly of a polymorphic cell that forms cartilage |
| abnormal long bone epiphyseal plate proliferative zone | any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix |
| absent cochlear inner hair cells | absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti |
| absent cochlear outer hair cells | absence of the columnar outer hair sensory cells of the organ of Corti |
| abnormal epiphyseal plate morphology | any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development |
| increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| abnormal endochondral bone ossification | anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone |
| micromelia | The presence of abnormally small extremities. |
| abnormal hyaline cartilage morphology | any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea |
| abnormal costal cartilage morphology | any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it |
| protruding tongue | Tongue extending beyond the alveolar ridges or teeth at rest. |
| abnormal auditory brainstem response waveform shape | any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts |
| decreased T cell proliferation | reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli |
| decreased interferon-gamma secretion | reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| decreased interleukin-2 secretion | reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes |
| decreased interleukin-4 secretion | reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| abnormal spleen morphology | any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets |
| increased susceptibility to infection | |
| increased granulocyte number | greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils |
| decreased IgM level | less than normal immunoglobulin class M level |
| arrested B cell differentiation | inability to produce mature B cells, and accumulation of B cell precursors |
| arrested T cell differentiation | failure of T cell formation to proceed past a defined stage |
| abnormal effector T cell morphology | any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response |
| increased macrophage cell number | greater than the normal numbers of macrophages |
| increased natural killer cell mediated cytotoxicity | increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors |
| decreased CD4-positive, alpha-beta T cell number | reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| decreased CD8-positive, alpha-beta T cell number | reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| lymph node hypoplasia | Underdevelopment of the lymph nodes. |
| absent mature B cells | absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex |
| abnormal T cell receptor V(D)J recombination | any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus |
| abnormal immunoglobulin V(D)J recombination | any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus |
| abnormal circulating LDL cholesterol level | any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions |
| increased circulating VLDL cholesterol level | greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue |
| increased triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| increased susceptibility to atherosclerosis | more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries |
| abnormal spatial learning | anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| abnormal long-term potentiation | alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells |
| abnormal active avoidance behavior | anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment |
| abnormal locomotor activation | altered ability or desire of an animal to initiate locomotor activity |
| astrocytosis | Proliferation of astrocytes in the area of a lesion of the central nervous system. |
| hematoma | |
| increased susceptibility to induced thrombosis | increased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent |
| absence seizures | Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures. |
| abnormal locomotor coordination | reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity |
| short vibrissae | decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors |
| increased heart weight | greater than average weight of the heart compared to controls |
| thick ventricular wall | increased depth of the cardiac wall of the heart ventricles |
| abnormal fetal cardiomyocyte proliferation | anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division |
| abnormal trabecula carnea morphology | any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart |
| enlarged myocardial fiber | increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| thick aortic valve | an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness |
| abnormal bronchiole epithelium morphology | any structural anomaly of the epithelial layer of the bronchioles |
| abnormal conjunctival sac morphology | any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids) |
| abnormal inflammatory response | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| hunched posture | stooped low with the limbs pulled in close to the body and arched back |
| abnormal diaphragm morphology | any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control |
| brain inflammation | |
| eye inflammation | an inflammation in the eye(s) |
| heart inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the heart |
| liver inflammation | |
| stomach inflammation | |
| increased leukocyte cell number | |
| enlarged lymph nodes | |
| multifocal hepatic necrosis | morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage |
| lung inflammation | |
| abnormal Peyer's patch germinal center morphology | any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells |
| myocardium necrosis | morphological changes resulting from pathological death of myocardial tissue; usually due to irreversible damage |
| gastric ulcer | A peptic ulcer of the gastric mucosa. |
| myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| decreased Peyer's patch number | reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles |
| lacrimal gland inflammation | |
| lethality at weaning, complete penetrance | premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food |
| diaphragmitis | inflammation of the diaphragm |
| increased circulating creatinine level | greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction |
| increased susceptibility to kidney reperfusion injury | an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia |
| renal tubular necrosis | morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage |
| abnormal physiological response to xenobiotic | any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ |
| xanthoma | |
| atherosclerotic lesions | thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow |
| dehydration | |
| decreased urine osmolality | reduction in the amount of ions in the urine compared to the normal state |
| decreased urine sodium level | lower than normal amount of sodium in the urine |
| increased blood osmolality | increase in the concentration of ions in the blood compared to the normal state |
| abnormal renal water transport | any anomaly in the directed movement of water (H2O) by the kidney |
| polydipsia | Excessive thirst manifested by excessive fluid intake. |
| polyuria | An increased rate of urine production. |
| decreased circulating triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| abnormal eye electrophysiology | any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) |
| abnormal salivary gland physiology | any functional anomaly of any of the glands in the mouth that secrete saliva |
| increased urine glucose level | |
| abnormal corpus luteum morphology | any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture |
| abnormal pancreatic islet morphology | any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| impaired luteinization | atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation |
| abnormal glucose homeostasis | Abnormality of glucose homeostasis. |
| abnormal cell-mediated immunity | abnormal function of any adaptive immune response in which T cells play a main role |
| abnormal humoral immune response | any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination |
| abnormal innate immunity | anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens |
| increased bone marrow cell number | increased number of cells that make up the core cavities of bones when compared to the normal state |
| abnormal mucosa-associated lymphoid tissue morphology | any structural anomaly of the regional immune system associated with the mucosa |
| skin lesions | focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin |
| hypoglycemia | |
| abnormal circulating free fatty acids level | any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues |
| abnormal lymph node cortex morphology | any structural anomaly in the outer area of the lymph node that has B and T cell domains |
| abnormal lymph node medulla morphology | any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells |
| enlarged spleen | |
| abnormal spleen red pulp morphology | any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation |
| abnormal spleen white pulp morphology | any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies |
| increased circulating corticosterone level | greater than the normal amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion |
| abnormal macrophage physiology | any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells |
| abnormal lymph node B cell domain morphology | any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers |
| abnormal lymph node secondary follicle morphology | any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed |
| abnormal lymph node T cell domain morphology | any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers |
| increased IgG level | An abnormally increased level of immunoglobulin G in blood. |
| abnormal plasma cell morphology | any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin |
| decreased glycogen catabolism rate | decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body |
| decreased circulating free fatty acids level | lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues |
| glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| enlarged submandibular lymph nodes | increased size of the submandibular lymph nodes |
| abnormal enzyme/coenzyme level | altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances |
| increased susceptibility to fungal infection | greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms |
| decreased percent body fat/body weight | less fat, relative to controls, expressed as a percentage of total body weight |
| abnormal T-helper 1 physiology | abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity |
| abnormal T-helper 2 physiology | abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy |
| increased insulin sensitivity | greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia |
| decreased susceptibility to type IV hypersensitivity reaction | less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
| hemosiderosis | An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. |
| abnormal adipose tissue physiology | any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue |
| decreased circulating leptin level | less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance |
| abnormal gluconeogenesis | anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat |
| impaired lipolysis | reduction in the rate of the hydrolysis of fat into free fatty acids |
| enlarged mesenteric lymph nodes | increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group |
| abnormal spleen secondary B follicle morphology | any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp |
| increased circulating interleukin-6 level | increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| decreased circulating interleukin-12 level | reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells |
| decreased gonadal fat pad weight | less than average weight of the encapsulated adipose tissue associated with the ovaries or testes |
| decreased uterine fat pad weight | less than average weight of the encapsulated adipose tissue associated with the uterus |
| enlarged inguinal lymph nodes | increased size of the lymph nodes located in the groin area |
| enlarged axillary lymph nodes | increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region |
| abnormal lymph node medullary cord morphology | any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node |
| renal glomerulus hypertrophy | increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement |
| expanded mesangial matrix | |
| increased mesangial cell number | increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft |
| increased muscle cell glucose uptake | increased ability of muscle cells to take in glucose |
| increased circulating glucagon level | increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes |
| improved glucose tolerance | better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals |
| increased insulin secretion | greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids |
| absent enteric neurons | absence of the neurons that innervate the esophagus, stomach, small and large bowel |
| aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| variable body spotting | the appearance of patches of white fur at random on the coat |
| decreased acute inflammation | less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response |
| abnormal choroid pigmentation | anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera |
| white spotting | the appearance of patches of white fur |
| intestinal obstruction | |
| abnormal hair follicle melanocyte morphology | any structural anomaly of the cells that produce pigment in the hair follicles |
| variable depigmentation | |
| abnormal bone marrow cell number | increased or decreased number of cells that make up the core cavities of bones when compared to controls |
| enlarged liver | larger than average size of the liver |
| abnormal lymphopoiesis | atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate |
| increased aggression towards male mice | when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice |
| accelerated hair follicle regression | earlier onset of catagen phase during the cyclic transformation of the hair follicle |
| prostate gland epithelial hyperplasia | epithelium is multi-layered instead of columnar and has increased cell number |
| decreased litter size | fewer live born pups in a litter compared to average |
| impaired ovarian folliculogenesis | a block in the formation of the spherical ovum in the ovary |
| spleen hyperplasia | overdevelopment or increased size, usually due to increased cell number, in the spleen |
| abnormal B cell number | deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity |
| increased monocyte cell number | |
| increased neutrophil cell number | greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes |
| abnormal astrocyte morphology | any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury |
| abnormal substantia nigra morphology | any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis) |
| abnormal somatosensory cortex morphology | any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface |
| decreased corpora lutea number | fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle |
| increased systemic arterial blood pressure | increased tension of the blood within the systemic arteries |
| abnormal leukopoiesis | any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells |
| increased chronic myelocytic leukemia incidence | |
| abnormal vascular smooth muscle physiology | any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels |
| abnormal vascular smooth muscle morphology | any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels |
| increased vasoconstriction | greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels |
| increased pre-B cell number | greater number of progenitor cells that form the B cell component of the immune system |
| neuron degeneration | a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses |
| abnormal response/metabolism to endogenous compounds | altered ability or inability to metabolize or respond to substances normally present in the body |
| abnormal muscle electrophysiology | any functional anomaly of the musculature as it relates to electrical phenomena |
| increased circulating insulin-like growth factor I level | increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities |
| abnormal cochlear IHC afferent innervation pattern | any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region |
| increased pro-B cell number | greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs |
| abnormal hair cycle catagen phase | anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced |
| decreased neuron number | fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses |
| abnormal cumulus oophorus morphology | atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix |
| increased keratinocyte apoptosis | increase in the number of keratinocytes undergoing programmed cell death |
| abnormal superovulation | altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones |
| increased compact bone area | increase in the total amount of cross-sectional area of compact bone tissue |
| myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| increased atretic ovarian follicle number | increase in the number of degenerated immature ovarian follicles |
| decreased superovulation rate | decreased ability of a female to be induced to ovulate resulting in fewer than the expected number of ova after treatment with specific gonadotrophic hormones |
| failure of superovulation | inability of a female to be induced to ovulate after treatment with specific gonadotrophic hormones |
| increased fatty acids level | elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated |
| insulin resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| hyperglycemia | |
| abnormal response to injury | anomaly in the body's reaction to trauma, especially that by physical means |
| impaired glucose tolerance | |
| abnormal food intake | any anomaly in the total number of calories/food amount taken in over time when compared to the normal state |
| decreased lean body mass | reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue |
| decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| ketoaciduria | |
| increased circulating free fatty acids level | higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues |
| skeletal muscle hypotrophy | decrease in the bulk size of the skeletal muscle due to cell shrinkage |
| decreased liver glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in liver |
| decreased birth weight | reduction in average weight at birth compared to controls |
| abnormal axon morphology | any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body |
| increased interleukin-12 secretion | increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells |
| increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| increased susceptibility to Herpesvirales infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order |
| abnormal intestinal mucosa morphology | any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells |
| abnormal pancreatic beta cell morphology | any structural anomaly of a cell that secretes insulin and is located towards the center of the islets of Langerhans in the pancreas |
| decreased pancreatic beta cell number | fewer than normal number of the cells of the pancreas that secrete insulin |
| abnormal pancreatic acinar cell morphology | any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes |
| pancreatic acinar cell zymogen granule accumulation | a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors |
| absent pancreatic islets | absence of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| decreased pancreatic alpha cell number | reduction in the number of the cells of the pancreas that secrete glucagon |
| decreased pancreatic delta cell number | reduced number of the cells found in the pancreas that secrete somatostatin |
| abnormal intestinal enteroendocrine cell morphology | any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract |
| increased pancreas apoptosis | increase in the number of cells of the pancreas undergoing programmed cell death |
| abnormal mating frequency | increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner |
| increased aggression towards female mice | when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice |
| abnormal breathing pattern | irregular or atypical breathing pattern, or absence of breathing |
| heart left ventricle hypertrophy | |
| abnormal renal tubule morphology | any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule |
| abnormal oxygen consumption | deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body |
| increased oxygen consumption | greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body |
| increased pulmonary ventilation | increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment |
| increased pulmonary respiratory rate | greater than the normal number of breaths per minute |
| increased tidal volume | greater than the normal volume of air inspired or expired during each normal respiratory cycle |
| increased ventricle muscle contractility | greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume |
| abnormal mitochondrial physiology | any functional anomaly of the cellular organelles responsible for energy production |
| pyloric stenosis | |
| decreased ovulation rate | reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) |
| enlarged stomach | increased size of the stomach |
| abnormal cardiac muscle relaxation | altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min |
| abnormal peripheral nervous system regeneration | changes in the ability or inability of healthy peripheral nervous system tissue to regenerate following injury or disease |
| decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| increased physiological sensitivity to xenobiotic | decrease in the dose or concentration of a foreign compound required to induce a specific level of physiological response |
| abnormal carbon dioxide production | deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas |
| slow Wallerian degeneration | an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur |
| pyloric sphincter hypertrophy | increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids |
| stomach smooth muscle circular layer hypertrophy | increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids |
| abnormal stomach wall morphology | any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between |
| abnormal pulmonary respiratory rate response | any anomaly in the change in the number of breaths per minute induced by a stimulus |
| delayed peripheral nervous system regeneration | late onset of the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease |
| abnormal immune system morphology | any structural anomaly in the organs or cells associated with the development and formation of lymphocytes |
| abnormal reproductive system morphology | |
| abnormal adaptive immunity | anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory |
| abnormal tumor susceptibility | greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls |
| decreased white adipose tissue amount | reduced quantity of fat-storing cells/tissue |
| abnormal systemic arterial blood pressure | altered tension of the blood within the systemic arteries |
| abnormal male meiosis | anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| increased T cell proliferation | increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli |
| abnormal fertilization | anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei |
| increased growth rate | reduced length of time to reach a developmental stage or stages |
| increased circulating antidiuretic hormone level | greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle |
| enlarged seminiferous tubules | increased diameter of the tubules in the testes where spermatogenesis occurs |
| increased single-positive T cell number | greater number of T cells bearing either CD4 or CD8 markers on their surface |
| increased susceptibility to induced morbidity/mortality | decrease in the amount of an external agent required to cause death or diseased state |
| increased sperm number | increased concentration of spermatozoa in the seminal fluid |
| abnormal vasodilation | anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle |
| abnormal ejaculation | Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. |
| abnormal blood flow velocity | any anomaly in the rate of flow of the blood through vessels |
| hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| abnormal neutrophil physiology | abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes |
| increased heart rate | greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute |
| decreased heart rate | |
| decreased vasodilation | less than the expected or normal widening of the lumen of the blood vessels |
| decreased coronary flow rate | reduced rate of blood flow in the blood vessels supplying the heart |
| abnormal pulmonary vascular resistance | deviation from the normal force opposing blood flow in the lung blood vessels |
| abnormal pulmonary pressure | altered tension of the blood within the pulmonary arteries |
| pulmonary hypertension | Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. |
| abnormal leukocyte adhesion | anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel |
| decreased neurotransmitter release | reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells |
| increased mean systemic arterial blood pressure | increase in the average arterial pressure during a single cardiac cycle |
| abnormal systemic vascular resistance | anomaly in the normal force opposing blood flow in the peripheral blood vessels |
| increased susceptibility to neuronal excitotoxicity | greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process |
| abnormal heart right ventricle pressure | any anomaly in the pressure within the right cardiac ventricle |
| enhanced leukocyte tethering or rolling | enhancement of the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation |
| abnormal cardiovascular system physiology | any functional anomaly of the heart or vascular tissue |
| decreased body temperature | |
| abnormal pulmonary artery morphology | any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs |
| decreased vascular permeability | reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases |
| increased circulating renin level | An increased level of renin (PRO:000013883) in the blood. |
| abnormal heart weight | anomaly in the average weight of the heart compared to controls |
| hepatic necrosis | The presence of necrosis affecting the liver. |
| decreased B cell proliferation | absent or reduced expansion rate of the B cell population by cell division in response to stimuli |
| dystrophic cardiac calcinosis | a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states |
| abnormal brown adipose tissue morphology | any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes |
| decreased mature B cell number | reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex |
| increased skeletal muscle fiber size | increase in the size of the large multinucleated cells that make up the skeletal muscles |
| chylous ascites | Extravasation of chyle into the peritoneal cavity. |
| abnormal B cell physiology | any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens |
| decreased B cell number | fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity |
| decreased circulating glucose level | less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source |
| decreased pro-B cell number | reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs |
| decreased pre-B cell number | reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface |
| increased adipocyte glucose uptake | increased ability of adipocytes to take in glucose |
| abnormal chorionic plate morphology | any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta |
| thin ventricle myocardium compact layer | reduced thickness of the ventricular portion of the outer, dense layer of the myocardium |
| thin interventricular septum | decreased thickness of the wall between the two lower chambers of the heart |
| abnormal placenta hemotrichorial membrane morphology | any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses |
| abnormal cortical marginal zone morphology | any structural anomaly of the developing superficial cortical layer located just under the pia matter |
| abnormal meninges morphology | any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) |
| abnormal body wall morphology | any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity |
| abnormal sagittal suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones |
| abnormal brain vasculature morphology | any structural anomaly of the blood vessel network of the brain |
| decreased Cajal-Retzius cell number | reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus |
| abnormal angiogenesis | aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network |
| vascular stenosis | a stricture or occlusion of a lumen of vascular tissue |
| increased vasodilation | greater than the expected or normal widening of the lumen of the blood vessels |
| abnormal vascular endothelial cell morphology | any structural anomaly of the cells that line the vasculature |
| abnormal capillary morphology | any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues |
| abnormal vertebral lamina morphology | any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen |
| abnormal vertebral column morphology | any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| abnormal skin vasculature morphology | any structural anomaly of the network of tubes that carries blood through the skin |
| neurodegeneration | a retrogressive impairment of function or destruction of neural tissue |
| abnormal vertebrae development | anomalous formation of the vertebrae from the sclerotome |
| kinked tail | a sharp bend or zigzag in the tail |
| abnormal pulmonary alveolus morphology | any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls |
| small embryonic telencephalon | reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| abnormal lateral ganglionic eminence morphology | any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE |
| short sternum | Decreased inferosuperior length of the sternum. |
| cervical vertebral fusion | the union of one or more cervical vertebrae into a single structure |
| lumbar vertebral fusion | the union of one or more lumbar vertebrae into a single structure |
| sacral vertebral fusion | the union of one or more sacral vertebrae into a single structure in species where this does not normally occur |
| thin cortical plate | reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers |
| occipital bone hypoplasia | decrease in the number of normal cells in normal arrangement in the occipital bone, typically resulting in decreased size |
| temporal lobe atrophy | acquired diminution of the size of the lower lateral part of the cerebral hemisphere |
| abnormal respiratory system physiology | any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment |
| lung hemorrhage | bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs |
| pulmonary fibrosis | |
| abnormal pulmonary alveolus wall morphology | |
| increased lung endothelial cell apoptosis | acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature to undergoing programmed cell death |
| impaired febrile response | reduced or absent febrile response to exogenous or endogenous pyrogens |
| abnormal T cell activation | anomaly in the process of producing effector T cells from naive T cells |
| dilated heart left ventricle | the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid |
| abnormal Langerhans cell physiology | atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus |
| pulmonary vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema |
| dilated pulmonary artery | the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid |
| increased lung weight | greater than average weight of the lung |
| decreased pulmonary vascular resistance | less than the normal force opposing blood flow in the lung blood vessels |
| pulmonary edema | |
| lymphangiectasis | |
| liver vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the liver |
| pulmonary alveolar hemorrhage | bleeding into the small sac-like dilations of the distal airspace of the lung |
| macrovesicular hepatic steatosis | A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. |
| microvesicular hepatic steatosis | A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. |
| left-to-right shunt | a left-to-right shunt allows the oxygenated, pulmonary venous blood to return directly to the lungs rather than being pumped to the body thereby reducing the cardiac output by the amount of the shunted volume; as a result, tissue oxygen delivery is reduced |
| abnormal blood vessel physiology | any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins |
| abnormal blood coagulation | altered ability or inability of the blood to clot |
| vascular restenosis | recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing |
| abnormal platelet activation | anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug |
| increased chemical nociceptive threshold | a greater than average concentration at which chemically induced pain sensation is first detectable |
| decreased prostaglandin level | reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation |
| abnormal thromboxane level | anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels |
| abnormal ureter morphology | any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder |
| abnormal stellate ganglion morphology | any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia |
| dilated renal tubule | stretched or widened aperture of the luminal space of one or more of the loops of Henle, proximal convoluted tubules or distal convoluted tubules |
| intestinal hypoperistalsis | reduced intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward |
| dilated renal glomerular capsule | stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus |
| abnormal ureter development | any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder |
| abnormal cardiac ganglion morphology | any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery |
| absent ureter | missing the tube that conducts the urine from the renal pelvis to the bladder |
| abnormal kidney collecting duct morphology | any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter |
| abnormal parasympathetic postganglionic fiber morphology | any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ |
| abnormal ureteric bud elongation | any anomaly in the process in which a ureteric bud grows along its axis |
| abnormal ureteric bud invasion | any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros |
| increased metanephric mesenchyme apoptosis | increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion |
| absent nephrogenic zone | absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation |
| oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans) |
| abnormal circulating glucose level | any anomaly in the concentration in the blood of the major monosaccharide of the body |
| cardiac hypertrophy | an increase in size of the cardiac tissue, not due to increased cell number |
| decreased circulating ketone body level | less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus |
| decreased inflammatory response | An abnormal reduction in the inflammatory response to injury or infection. |
| abnormal Peyer's patch morphology | any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles |
| abnormal Peyer's patch follicle morphology | any structural anomaly of the area of the Peyer's patch normally occupied by B cells |
| abnormal mesenteric lymph node morphology | any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group |
| abnormal fat pad morphology | any structural anomaly of the encapsulated adipose tissue |
| abnormal lymphocyte physiology | any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells |
| decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| decreased susceptibility to experimental autoimmune encephalomyelitis | reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) |
| absent follicular dendritic cells | absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response |
| abnormal spleen primary B follicle morphology | any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp |
| abnormal spleen follicular dendritic cell network | any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response |
| absent spleen germinal center | absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| decreased keratinocyte proliferation | reduction in the expansion rate of keratinocytes by cell division |
| alveolar process atrophy | acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal susceptibility to infection | a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens |
| decreased IgG level | less than normal immunoglobulin class G level |
| decreased susceptibility to autoimmune disorder | reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides |
| abnormal cytokine secretion | anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells |
| abnormal follicular dendritic cell physiology | abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response |
| decreased spleen white pulp amount | reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies |
| decreased circulating tumor necrosis factor level | reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| abnormal chemokine secretion | anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
| decreased susceptibility to endotoxin shock | less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death |
| decreased spleen B cell follicle number | reduction in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur |
| increased skin papilloma incidence | |
| abnormal glutamate-mediated receptor currents | change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors |
| increased circulating tumor necrosis factor level | greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| microgliosis | a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue |
| decreased susceptibility to dopaminergic neuron neurotoxicity | less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism |
| impaired lung alveolus development | a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways |
| abnormal branching involved in trachea morphogenesis | anomaly in the process in which the two main branches of the trachea is generated and organized |
| impaired branching involved in preterminal bronchiole morphogenesis | partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized |
| increased satellite cell number | greater number of unfused cells in muscle that play a role in muscle regeneration |
| impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| abnormal response to transplant | anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual |
| matted coat | coat hairs sticks together to form clumps and does not lie flat |
| greasy coat | fur is oily in appearance or texture |
| abnormal papillary duct morphology | any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa |
| abnormal kidney inner medulla morphology | any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle |
| kidney cortex hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the outer portion of the kidney, which contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts |
| kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| abnormal kidney collecting duct epithelium morphology | any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis |
| fused cornea and lens | condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye |
| small pupil | smaller than normal size of the central circular aperture of the iris through which light rays enter the eye |
| abnormal pupillary reflex | alterations or failure of the pupil to change in diameter as a reflex response to any stimulus |
| abnormal ciliary body morphology | any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris |
| abnormal canal of Schlemm morphology | any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation |
| abnormal corneal stroma morphology | any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes |
| corneal vascularization | formation of blood vessels in the cornea, which normally lacks vessels |
| abnormal iridocorneal angle | any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye |
| absent trabecular meshwork | absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates |
| corneal-lenticular stalk | persistent central adhesion between the lens and the cornea |
| developmental cataract | a lens opacity that is present before or at birth |
| no spontaneous movement | failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus |
| abnormal telencephalon development | anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon |
| abnormal embryonic/fetal subventricular zone morphology | any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles |
| abnormal cerebral hemisphere morphology | any structural anomaly of the largest part of the brain; the cerebrum is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities |
| athymia | absence of the primary lymphoid organ |
| hairless | |
| absent T cells | absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation |
| abnormal thymus development | anomaly in the formation and/or differentiation of the thymus |
| abnormal leukocyte cell number | any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue |
| abnormal thymus morphology | any structural anomaly of the primary lymphoid organ that is required for maturation of T cells |
| increased B cell number | greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity |
| abnormal thymus epithelium morphology | any structural anomaly of the supporting framework of the thymus |
| abnormal immune cell physiology | any functional anomaly of the cells of the immune system |
| abnormal T cell physiology | any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation |
| abnormal T cell clonal deletion | a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation |
| increased IgM level | An abnormally increased level of immunoglobulin M in blood. |
| abnormal thymocyte activation | anomaly in the process of producing activated thymocytes from naive thymocytes |
| abnormal hippocampus pyramidal cell layer | |
| increased IgG2a level | greater than normal immunoglobulin class G2a level |
| abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base; the axons may have local collaterals but also project outside their cortical region |
| increased hippocampus pyramidal cell number | increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer |
| audiogenic seizures | |
| abnormal startle reflex | aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch |
| abnormal olfaction | anomaly in the ability to smell |
| abnormal pup retrieval | any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups |
| abnormal maternal nurturing | anomaly in the behaviors related to a female tending to young |
| abnormal seminiferous tubule morphology | any structural anomaly of the tubules in the testes where spermatogenesis occurs |
| abnormal myelination | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| increased dopamine level | greater than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary |
| abnormal hypothalamus morphology | Any structural anomaly of the hypothalamus. |
| abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| abnormal hippocampus layer morphology | any structural anomaly of the layers of the laminar structure of the hippocampus |
| abnormal excitatory postsynaptic potential | defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization |
| increased fear-related response | greater emotional response related to anticipation of specific pain or danger |
| enhanced passive avoidance behavior | increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously |
| increased susceptibility to experimental autoimmune uveoretinitis | greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens |
| decreased testis weight | reduced average weight of the male reproductive glands |
| increased tumor necrosis factor secretion | increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| abnormal interleukin secretion | anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli |
| enhanced behavioral response to alcohol | increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response |
| increased susceptibility to xenobiotic induced morbidity/mortality | decrease in the amount of a compound foreign to living organisms required to cause death or diseased state |
| increased serotonin level | increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity |
| prolonged circadian behavior period | increase in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues |
| abnormal locomotor circadian rhythm | any anomaly in the rhythm of the locomotor activity of an organism during its 24 hour activity cycle |
| abnormal ectoplasmic specialization morphology | any structural anomaly of the testis-specific adheren junctions that are present during the seminiferous epithelial cycle of spermatogenesis at the Sertoli-Sertoli cell interface (known as the basal ES at the blood-testis barrier) or at the Sertoli-elongating spermatid interface (known as the apical ES in the adluminal compartment) |
| ventricular hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the two lower chambers of the heart |
| placental labyrinth hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the placental labyrinth, the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| dilated heart right ventricle | the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid |
| early eyelid opening | early average time for the first postnatal eye opening |
| small placenta | Reduced size of the placenta. |
| petechiae | Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. |
| abnormal social/conspecific interaction behavior | deviation of the normal behavior of animals towards each other |
| abnormal nest building behavior | deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring |
| decreased vertical activity | lesser than average time spent jumping or rearing |
| abnormal response to novel object | altered behavioral reaction associated with exposing an animal to a novel object |
| abnormal behavior | any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls |
| abnormal cerebellum vermis lobule morphology | any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres |
| abnormal cerebellum vermis lobule II morphology | The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. |
| abnormal cerebellum vermis lobule III morphology | The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. |
| abnormal cerebellum vermis lobule IV morphology | The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602). |
| abnormal cerebellum vermis lobule V morphology | The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602). |
| abnormal cerebellum vermis lobule VI morphology | |
| abnormal cerebellum vermis lobule VII morphology | In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. |
| increased locomotor activity | general increase in locomotor activity; increased movement from one place to another |
| absent corpus luteum | absence of the yellow endocrine body formed in the ovary after follicle rupture |
| small ovary | reduced size of the female reproductive gland containing the germ cells |
| ovary cyst | presence of one or more fluid-filled membranous sacs within the ovary |
| abnormal ovarian folliculogenesis | atypical formation or failure to form the spherical ovum in the ovary |
| abnormal urinary bladder morphology | any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| abnormal enteric nervous system morphology | any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport |
| abnormal enteric neuron morphology | any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel |
| abnormal neurotransmitter secretion | anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell |
| abnormal social investigation | altered behavior of animals to approach and examine other animals |
| social withdrawal | reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation |
| stereotypic behavior | A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. |
| increased startle reflex | reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch |
| decreased aggression towards mice | when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice |
| decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| abnormal huddling behavior | deviation from the usual tendency of mice to pile together when sleeping |
| overexpanded pulmonary alveolus | expanded volume of one or more of the saclike terminal dilations of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries |
| absence of NMDA-mediated synaptic currents | absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors |
| abnormal locomotor behavior | altered ability or inability to move from place to place in response to stimuli |
| decreased susceptibility to pharmacologically induced seizures | ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity |
| apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| abnormal brainstem morphology | |
| absent suckling reflex | inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin |
| jumpy | marked by fitful, jerky movements |
| reduced NMDA-mediated synaptic currents | reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors |
| absent corpus callosum | absence of the commissural plate interconnecting the cortical hemispheres of the brain |
| abnormal midbrain-hindbrain boundary development | anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate |
| absent otic vesicle | absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear |
| absent hippocampal commissure | absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side |
| absent anterior commissure | absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle |
| abnormal frontonasal prominence morphology | any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout |
| olfactory bulb hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the forebrain region that coordinates neuronal signaling involved in the perception of smell |
| abnormal septum pellucidum morphology | any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala |
| decreased forebrain size | size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| bifurcated Rathke's pouch | the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed |
| small vomeronasal organ | reduced size of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system |
| absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| abnormal rhombomere morphology | any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure |
| anoxia | absence or almost complete absence of oxygen from inspired gases, in blood or tissues |
| absent scala media | missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing |
| abnormal interparietal bone morphology | any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| absent facial nuclei | missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle |
| abnormal superior vagus ganglion morphology | any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen |
| delayed neural tube closure | delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline |
| absent endolymphatic sac | absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone |
| absent cochlea | absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound |
| absent cochlear ganglion | absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) |
| small vestibular ganglion | reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve |
| absent vestibular saccule | absence of the smaller of the two sacs in the vestibule |
| abnormal vestibular saccular macula morphology | any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies |
| abnormal utricular macula morphology | any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences |
| absent utricle | absence of the larger of the two sacs in the vestibule |
| absent vestibulocochlear nerve | absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth |
| absent common crus | absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear |
| abnormal head morphology | any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
| absent middle ear ossicles | missing small bones of the tympanic cavity |
| absent superior olivary complex | missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound |
| small geniculate ganglion | reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve |
| abnormal pons morphology | any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum |
| small facial motor nucleus | reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression |
| small superior glossopharyngeal ganglion | reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen |
| absent cochlear nerve | absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root |
| absent vestibular nerve | absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root |
| loss of eyelid cilia | inability to retain the eyelashes |
| deformed nails | atypical shape or size of the nails |
| abnormal filiform papillae morphology | any structural anomaly of the keratinized projections on the dorsal surface of the tongue |
| abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| brittle hair | Fragile, easily breakable hair, i.e., with reduced tensile strength. |
| caudal vertebral transformation | homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae |
| hairless tail | the tail is devoid of hair |
| increased immunoglobulin level | greater than normal immunoglobulin level |
| abnormal megakaryocyte morphology | any structural anomaly of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| increased lymphocyte cell number | greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells |
| decreased T cell number | fewer than normal T cell numbers |
| abnormal cytotoxic T cell physiology | any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells |
| increased spleen weight | greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets |
| abnormal plasma cell number | anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin |
| increased mature B cell number | greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex |
| increased spleen red pulp amount | increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation |
| increased susceptibility to Riboviria infection | increase in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid |
| hepatosplenomegaly | Simultaneous enlargement of the liver and spleen. |
| delayed bone ossification | late onset of the formation of bone |
| decreased hair follicle number | fewer number of the epidermal invaginations from which the hair shaft develops |
| muscle hypoplasia | decrease in the number of normal cells in normal arrangement in the muscle, typically resulting in decreased size |
| small hair follicles | reduced size of the invagination of the epidermis from which the hair shaft develops |
| thin epidermis stratum spinosum | reduced thickness of the stratum spinosum; the polyhedral cell layer |
| decreased oligodendrocyte progenitor number | fewer cells that differentiate into a type of glial cell in the central nervous system |
| respiratory system inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system |
| head blaze | the appearance of a stripe of white fur on the head |
| abnormal retina rod cell morphology | any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision |
| failure of neuromuscular synapse presynaptic differentiation | inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse |
| albuminuria | The presence of albumin in the urine, an indicator of KIDNEY DISEASES. |
| increased urine protein level | greater than the normal amount of proteins in the urine |
| abnormal retina outer plexiform layer morphology | any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) |
| fused podocyte foot processes | coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| short photoreceptor inner segment | decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| abnormal renal glomerulus basement membrane morphology | any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter |
| increased renal glomerulus basement membrane thickness | increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule |
| abnormal glomerular filtration barrier function | anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine |
| decreased total retina thickness | decreased width of the retina through the center plane |
| muscle degeneration | pathological deterioration of muscle tissue, often accompanied by loss of function |
| abnormal tongue morphology | any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| dystrophic muscle | |
| myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| absent Schwann cells | missing cells that sheath the axons of the peripheral nervous system |
| calcified muscle | pathologic deposition of calcium salts in muscle |
| absent hair follicle melanin granules | absence of the pigment polymers located in the hair follicles |
| absent alveolar process | missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets |
| pointed snout | muzzle tapers to a small tip, sharper angle than wild type |
| persistence of hyaloid vascular system | failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye |
| underdeveloped hair follicles | arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops |
| absent mesencephalic trigeminal nucleus | missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve |
| absent barrels in primary somatosensory cortex | missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae |
| absent molars | absence of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface |
| absent upper incisors | absence of the upper pair of long teeth that are the most anterior and prominent in the jaw |
| absent lower incisors | missing the lower pair of long teeth that are the most anterior and prominent in the jaw |
| absent subcutaneous adipose tissue | absence of adipose tissue beneath the skin |
| absent hippocampus | missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system |
| absent dentate gyrus | lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers |
| disorganized secondary lens fibers | deformation or misalignment of the elongated cells that form the crystalline lens |
| abnormal vitreous body morphology | any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina |
| total cataract | A Congenital cataract characterized by an opacity of all the fibers of a lens. |
| abnormal tail position or orientation | tail is displaced from the normal location and/or does not orient in a typical pattern |
| hydropic eye lens fibers | swollen cortical fibers of the eye lens |
| abnormal enzyme/coenzyme activity | An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. |
| absent maxillary shelf | missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| absent premaxilla | missing anterior and interior portion of the maxilla |
| large anterior fontanelle | enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium |
| growth retardation of molars | developmental delay of the growth of the molars |
| overlapping parietal bones | parietal bones of the skull partly coincide instead of articulating |
| abnormal metopic suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the frontal bone from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms |
| short malleus | reduced length of the largest of the three auditory ossicles, which resembles a club or hammer |
| abnormal palatal shelf fusion at midline | any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages |
| abnormal cerebellum development | aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills |
| big ears | |
| brittle teeth | fragile and likely to break teeth |
| degenerate molars | deterioration or loss over time of the molars |
| ameloblast degeneration | a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth |
| delaminated cerebellar granule layer | splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells |
| delaminated Purkinje cell layer | splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum |
| abnormal cerebellum anterior vermis morphology | any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure |
| absent cerebellum vermis lobule VIII | missing part of the inferior vermis of the cerebellum (vermis lobule VIII) |
| absent cerebellum vermis lobule IX | missing triangular elevation on the vermis of the cerebellum |
| cerebellum vermis hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the vermis |
| chondrodystrophy | abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk |
| premature hair loss | release of fur at an earlier than expected time |
| tonic seizures | increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity |
| abnormal mammary gland embryonic development | aberration in the differentiation of the mammary gland during early embryogenesis |
| frontal bone foramen | presence of a hole in the bone forming the forehead and roof of the eye orbit |
| decreased osteoclast cell number | reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| abnormal appendicular skeleton morphology | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| abnormal enamel organ morphology | any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth |
| long nails | increased length of the nails |
| abnormal stellate reticulum morphology | any structural anomaly of the network of star-shaped cells found in the core of the dental (enamel) organ between the stratum intermedium and outer enamel epithelium which secrete hydrophilic glycosaminoglycans into the extracellular compartment; the stellate reticulum is most fully developed at the bell stage when intercellular spaces become fluid-filled, presumably related to osmotic effects arising from the high concentration of glycosaminoglycans; the main function of the stellate reticulum is mechanical, protecting the underlying dental tissues against physical disturbance and maintaining tooth shape |
| abnormal stratum intermedium morphology | any structural anomaly of the layer of two or three flattened cells located between the inner enamel epithelium and the newly forming cells of the stellate reticulum; it first appears during the early bell stage of tooth development, has a notably high alkaline phosphatase activity, and forms a part of the dental (enamel) organ; this layer, along with the inner enamel epithelium, is responsible for the tooth enamel formation |
| decreased germ cell number | reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated |
| small epididymis | decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| truncated ribs | ribs that terminate abruptly as if having an end or point cut off |
| unresponsive to tactile stimuli | absence of reflex action normally induced by touch or pain |
| increased brown adipose tissue amount | increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes |
| thin diaphragm muscle | reduced thickness of the diaphragm muscle |
| decreased skeletal muscle mass | reduction in the physical bulk, or total amount of matter contained within skeletal muscle |
| decreased skeletal muscle fiber density | decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle |
| abnormal sternebra size | atypical size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| abnormal response to infection | any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms |
| increased acute inflammation | greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response |
| decreased vasoconstriction | reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels |
| enlarged chest | wider diameter, or distended chest cavity |
| megacephaly | |
| delayed hepatic development | late onset of the induction and/or differentiation of the liver |
| delayed muscle development | late onset of the induction and/or differentiation of skeletal muscle |
| abnormal heart shape | any anomaly in the characteristic surface outline or contour of the heart |
| abnormal heart valve morphology | any structural anomaly of the membranous folds of the heart that prevent reflux of fluid |
| focal hepatic necrosis | morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage |
| paravertebral ganglia hyperplasia | overdevelopment or increased size, usually due to increased cell number, of the groups of postsynaptic neurons located at intervals along the sympathetic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia |
| prevertebral ganglia hyperplasia | overdevelopment or increased size, usually due to increased cell number, of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia |
| heart hypoplasia | |
| increased atrioventricular cushion size | larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal |
| liver hemorrhage | bleeding within the liver |
| skeletal muscle hypoplasia | underdevelopment or decreased size of the skeletal muscle, usually due an decreased number of cells |
| pleural effusion | The presence of an excessive amount of fluid in the pleural cavity. |
| abnormal mitral valve cusp morphology | any structural anomaly of the two fibrous components and associated flaps of the mitral valve |
| abnormal metanephros morphology | any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine |
| increased adrenal gland tumor incidence | greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period |
| increased neurofibrosarcoma incidence | greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period |
| increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
| increased hepatoma incidence | greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period |
| abnormal pain threshold | increased or decreased average level of perception of pain |
| abnormal neuron apoptosis | change in the timing or the number of neurons undergoing programmed cell death |
| abnormal cardiac outflow tract development | anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions |
| pharynx hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the passage between the mouth and the posterior nares and the larynx and esophagus |
| common ventricle | |
| abnormal intersomitic artery morphology | any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries |
| pharyngeal arch artery hypoplasia | underdevelopment or reduced size of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| abnormal sinus venosus morphology | any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava |
| abnormal palatine gland morphology | any structural anomaly of the salivary gland of the hard palate |
| narrow salivary ducts | reduced diameter of the tubular canals that carry saliva |
| salivary gland epithelial hyperplasia | increased cell number in the epithelium of the salivary gland |
| small salivary gland | reduced size of the saliva-secreting glands of the oral cavity |
| abnormal prostate gland morphology | any structural anomaly of the gland in males that secretes part of the seminiferous fluid |
| abnormal bulbourethral gland morphology | any structural anomaly of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female |
| abnormal prostate gland epithelium morphology | any structural anomaly of the prostate epithelium |
| decreased prostate gland duct number | fewer than normal minute canals that pass the prostatic secretions to the urethra |
| decreased ductal branching in the coagulating gland | fewer branches and distal tips of the vesicles of the coagulating gland |
| small prostate gland anterior lobe | reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles |
| prostate gland anterior lobe hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the anterior lobe of the prostate |
| abnormal minor salivary gland morphology | any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands |
| abnormal salivary gland duct morphology | any structural anomaly of the tubular canals that carry saliva |
| abnormal bulbourethral gland development | aberrant formation or incomplete differentiation of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; in mouse, bulbourethral glands are first identifiable at E17.5 and epithelial branching normally starts at postnatal day P1; during development, bulbourethral glands arise as epithelial outgrowths of the endodermal urogenital sinus invading the condensed mesenchyme flanking the primitive urethra; during subsequent development the epithelium branches extensively, filling the mesenchymal capsule and giving rise to the highly arborized ductal system of the mature organ |
| small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle |
| prostate gland dorsolateral lobe hyperplasia | increase in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in increased size |
| abnormal prostate gland anterior lobe morphology | any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles |
| preneoplasia | state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development |
| bulbourethral gland hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, of the bulbourethral gland |
| abnormal prostate gland physiology | any functional anomaly of the gland in males that secretes part of the seminiferous fluid |
| abnormal bulbourethral gland physiology | any functional anomaly of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, which produce a clear, salty, viscous secretion known as pre-ejaculate (aka as pre-ejaculatory fluid, preseminal fluid, or Cowper's fluid) upon sexual stimulation; this fluid is believed to lubricate the urethra for spermatozoa to pass through and neutralize traces of acidic urine in the urethra |
| abnormal left-right axis symmetry of the somites | anomaly in the formation or development of the somites in relation to the left and right sides of the body |
| abnormal placenta size | anomaly in the size or shape of the organ of metabolic interchange between fetus and mother |
| abnormal bile salt homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats |
| increased liver adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period |
| increased hepatocellular carcinoma incidence | |
| increased hepatocyte proliferation | increase in the expansion rate of the hepatocyte cell population by cell division |
| increased circulating phospholipid level | greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group |
| abnormal bile salt level | anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats |
| increased bile salt level | increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats |
| increased liver tumor incidence | greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period |
| increased liver triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| increased liver cholesterol level | greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| decreased susceptibility to weight gain | smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake |
| trabecula carnea hypoplasia | underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, usually due to a reduced number of cells |
| enlarged pericardium | extended fibroserous membrane covering the heart and beginning of the great vessels |
| absent oligodendrocytes | absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS |
| decreased Schwann cell precursor number | fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system |
| abnormal mandibular nerve innervation pattern | any changes in the placement, morphology or number of mandibular nerve fibers providing motor and sensory nerve supply from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini |
| decreased radial glial cell number | reduction in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult |
| decreased cardiac output | reduction in the blood volume pumped by each ventricle per minute |
| limp posture | lack of rigidity of the carriage of the body |
| abnormal motor neuron innervation pattern | any changes in the placement, morphology or number of motor nerve fibers to an effector motor tissue, or failure of refinement of neuronal connections during development |
| abnormal phrenic nerve morphology | any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues |
| decreased sensory neuron number | fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| defasiculated phrenic nerve | misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues |
| centrally nucleated skeletal muscle fibers | An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). |
| impaired synaptic plasticity | decrease or inability of a synapse to change its strength as a result of successive activations |
| abnormal contextual conditioning behavior | anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) |
| absent trochlear nerve | absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye |
| abnormal habenula morphology | any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone |
| abnormal anterior commissure morphology | any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle |
| abnormal spinal cord dorsal column morphology | any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception |
| abnormal anterior commissure pars posterior morphology | any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes |
| abnormal sensory capabilities/reflexes/nociception | inability or altered ability to respond to a sensory stimulus |
| impaired limb coordination | reduced ability to organize limb movements to execute complex maneuvers, such as walking |
| absent golgi tendon organ | missing sensory organ in muscle that is involved in regulating muscle tension |
| abnormal innervation pattern to muscle | any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle |
| small mesencephalic trigeminal nucleus | reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve |
| abnormal proprioceptive neuron morphology | any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord |
| absent muscle spindles | absence of the sensory organs in muscle that are involved in the stretch reflex |
| athetotic walking movements | |
| small L5 dorsal root ganglion | reduced size of the L5 spinal ganglion |
| cochlear ganglion hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) |
| abnormal muscle spindle morphology | any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex |
| abnormal posture | atypical intentionally or habitually assumed position of the limbs or carriage of the body |
| small L4 dorsal root ganglion | reduced size of the L4 spinal ganglion |
| abnormal pulmonary vein morphology | any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart |
| abnormal semilunar valve morphology | any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk |
| abnormal somatic nervous system morphology | any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) |
| vascular smooth muscle hypotrophy | decrease in size or thickness of the smooth muscle of the vascular wall |
| aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| pulmonary valve stenosis | |
| abnormal heart ventricle outflow tract morphology | any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries |
| ostium secundum atrial septal defect | |
| heart right ventricle outflow tract stenosis | |
| atrium myocardium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the atrial part of the heart myocardium |
| sinus venosus hypoplasia | underdevelopment or reduced size of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite, usually due to a reduced number of cells |
| premature closure of the ductus arteriosus | premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth |
| abnormal heart left ventricle size | anomaly of the average size of the left ventricle compared to the average for a particular population |
| abnormal atrium myocardial trabeculae morphology | any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria |
| thick aortic valve cusps | an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness |
| thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| abnormal hair cycle | aberrant timing of growth and regression of the hair follicles |
| thick skin | greater thickness of the outer protective layer of the body |
| abnormal righting response | altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position |
| abnormal pontine nuclei morphology | any structural anomaly of nuclei in the basal pons, intermingled among the descending axons from the cortex, that receive neocortcial input and give rise to many axons that cross the midline to enter the contralateral cerebellum |
| abnormal vibrissae reflex | animals do not change position in response to stimulation of the whiskers |
| mottled coat | coat has spots, streaks, and/or blotches of a different color |
| ulcerated autopod | inflammatory, often suppurating lesions on the paws; often become necrotic |
| miotic pupil | decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris |
| increased thermal nociceptive threshold | a greater than average point at which thermal pain sensation is first detectable |
| abnormal cholinergic neuron morphology | any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons |
| abnormal sympathetic nervous system physiology | any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations |
| no swallowing reflex | inability to pull food through the esophagus to the stomach in response to feeding |
| abnormal vestibular ganglion morphology | any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration |
| small cochlear ganglion | reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) |
| abnormal crista ampullaris neuroepithelium morphology | any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct |
| abnormal cochlear OHC afferent innervation pattern | any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region |
| abnormal somatic sensory system morphology | any structural anomaly of the neural tissue involved in the transmission of sensory signals |
| abnormal vestibulocochlear nerve morphology | any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve |
| absent hair-down neurons | absence of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli |
| abnormal vestibular nerve morphology | any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion |
| abnormal synapse morphology | any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means |
| abnormal lumbar dorsal root ganglion morphology | any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae |
| abnormal mitral valve morphology | any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) |
| abnormal tricuspid valve morphology | any structural anomaly of the valve located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (anulus) |
| abnormal aortic valve morphology | any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) |
| abnormal heart septum morphology | any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles |
| enlarged pulmonary valve | an increase in the total area occupied by the pulmonary valve |
| convulsive seizures | seizures characterized by uncontrolled motor activity |
| nonconvulsive seizures | seizures without uncontrolled motor activity, but with impairment of consciousness |
| arrest of spermatogenesis | block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa |
| decreased brain weight | lower than average weight of the brain |
| increased inferior colliculus size | enlargement of the paired inferior eminence of the mesencephalic tectum |
| increased superior colliculus size | enlargement of the paired superior eminence of the mesencephalic tectum |
| delayed fertility | ability to produce live offspring occurring at a later than expected age |
| decreased circulating testosterone level | reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| absent Harderian gland | absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane |
| increased cerebellar foliation | the cerebellar lobules are increased in size or number |
| abnormal skin condition | any anomaly in the state or quality of the skin |
| abnormal auchene hair morphology | any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla |
| abnormal awl hair morphology | any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla |
| ruffled hair | fuzzy, irregular appearance of the hair |
| splitting of guard hairs | intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla |
| dilated uterine cervix | stretched or widened aperture of the lower opening of the uterus to the vagina |
| dilated uterus | stretched or widened luminal space of the female muscular organ of gestation |
| constricted vagina orifice | shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female |
| vagina atresia | |
| decreased male germ cell number | reduced numbers of male germ cells whether they are undifferentiated or fully differentiated |
| kidney atrophy | |
| absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| embryonic lethality before implantation, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5) |
| coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| hypopigmentation | |
| iris hypoplasia | decrease in the number of normal cells in normal arrangement in the iris, typically resulting in decreased size |
| retina fold | presence of one or more wrinkles projecting outward from the surface of the retina |
| small ears | outer ears of a smaller than normal size |
| abnormal endocrine pancreas development | anomaly in the formation of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans |
| abnormal cornea anterior stroma morphology | any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea |
| abnormal Bowman membrane morphology | any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea |
| anterior iris synechia | |
| decreased corneal epithelium thickness | decrease in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea |
| absent pancreatic alpha cells | absence of the cells of the pancreas that secrete glucagon |
| disorganized pancreatic islets | derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells |
| abnormal thalamus morphology | any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain |
| abnormal male germ cell morphology | A structural anomaly of a male reproductive cell. |
| abnormal mitral cell morphology | any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex |
| emphysema | A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. |
| heart right ventricle hypertrophy | |
| abnormal pulmonary elastic fiber morphology | any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity |
| enlarged thoracic cavity | increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway |
| pneumothorax | |
| abnormal pulmonary interalveolar septum morphology | any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes |
| abnormal pulmonary alveolar parenchyma morphology | any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages |
| polyphagia | A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. |
| increased grooming behavior | increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) |
| sporadic seizures | occasional seizures occurring at irregular intervals |
| increased white adipose tissue amount | increased quantity of fat-storing cells/tissue |
| increased body weight | |
| increased susceptibility to pharmacologically induced seizures | inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity |
| tonic-clonic seizures | |
| increased epididymal fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the epididymis |
| increased renal fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the kidney |
| impaired behavioral response to xenobiotic | decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| abnormal glucose tolerance | An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. |
| wrinkled skin | irregular folds and/or indentations on the skin |
| increased liver weight | a greater than average weight of the bile-secreting exocrine gland |
| decreased ornithine carbamoyltransferase activity | reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline |
| abnormal metabolism | any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation |
| abnormal amino acid level | any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group |
| delayed hair appearance | late onset of the first appearance of the fur |
| focal hair loss | focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body |
| abnormal hepatobiliary system physiology | any functional anomaly of the tissues of the liver or biliary system |
| decreased circulating LDL cholesterol level | reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions |
| decreased circulating VLDL cholesterol level | reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue |
| increased susceptibility to experimental autoimmune encephalomyelitis | greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) |
| increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| decreased lung tumor incidence | less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period |
| increased susceptibility to dystrophic cardiac calcinosis | more likely to be stricken by dystrophic cardiac calcinosis |
| perinatal lethality | |
| abnormal anterior visceral endoderm cell migration | any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| absent optic pit | absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles |
| impaired skin barrier function | impaired ability of the skin to regulate water loss; frequently leads to dehydration |
| increased platelet aggregation | increase in the ability of one platelet to one or more other platelets via adhesion molecules |
| cranioschisis | incomplete closure of the skull, usually congenital |
| abnormal brain ventricle morphology | any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| abnormal viscerocranium morphology | any structural anomaly of the part of the skull that comprises the facial bones |
| abnormal spermatogonia morphology | any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes |
| increased embryonic neuroepithelium thickness | increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells |
| abnormal fibroblast apoptosis | change in the timing or the number of fibroblast cells undergoing programmed cell death |
| interdigital webbing | fold of skin, or web, between the toes that is not normally present |
| choroid plexus hyperplasia | overdevelopment or increased size, usually due an increased number of cells located in the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain |
| hypothalamus hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the hypothalamus |
| thalamus hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the thalamus |
| thickened cerebral cortex | increased depth of the mantle covering the surface of the cerebral hemispheres |
| abnormal facial morphology | any structural anomaly of the face |
| abnormal respiratory electron transport chain | anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient |
| flat head | the appearance of a flattened surface outline or contour of a normally rounded head of an organism |
| abnormal reproductive system physiology | any functional anomaly of the organs associated with producing offspring |
| increased mortality induced by gamma-irradiation | greater sensitivity to doses of ionizing radiation |
| short stride length | reduced average distance between steps |
| decreased activated T cell number | reduced numbers of effector T cells |
| abnormal lysosome morphology | any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases |
| increased double-positive T cell number | greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 |
| absent ovarian follicles | absence of the sac-like structure in the ovary which surrounds an ovum |
| absent oocytes | absence of mature germ cells in the female |
| absent estrous cycle | failure of female animals to enter or progress through the estrous cycle |
| absent estrus | absence or failure of the estrous phase of the estrous cycle in female animals |
| decreased fibroblast proliferation | reduction in the expansion rate of a fibroblast cell population by cell division |
| abnormal microglial cell physiology | any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques |
| arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| decreased IgG2a level | less than normal immunoglobulin class G2a level |
| decreased IgG2b level | less than normal immunoglobulin class G2b level |
| decreased IgG3 level | less than normal immunoglobulin class G3 level |
| ovary degeneration | a retrogressive impairment of function or destruction of one or both ovaries |
| decreased immature B cell number | reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity |
| decreased splenocyte number | reduction in the expected number of cells of the spleen |
| abnormal T cell differentiation | atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors |
| thymus cortex hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| abnormal chromosome morphology | any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information |
| chromosome breakage | Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. |
| increased cellular sensitivity to ionizing radiation | increased incidence of cell death following exposure to ionizing radiation |
| increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseases |
| hydronephrosis | |
| increased hematocrit | An increase in the volume of packed erythrocytes in a blood specimen. |
| increased circulating sodium level | |
| increased circulating chloride level | |
| dry skin | Skin characterized by the lack of natural or normal moisture. |
| abnormal CD8-positive, alpha-beta cytotoxic T cell morphology | any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner |
| increased gamma-delta T cell number | greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| increased gamma-delta intraepithelial T cell number | greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| thick tail | a tail with a greater diameter than normal |
| abnormal vertebral arch development | anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen |
| abnormal digestive organ placement | different location or arrangement of any of the alimentary tract organs |
| small basisphenoid bone | reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone |
| vertebral compression | appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space |
| small caudal vertebrae | reduced size of the bony segments of the coccyx or tail |
| abnormal basicranium morphology | any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones |
| basioccipital bone hypoplasia | decrease in the number of normal cells in normal arrangement in the basioccipital bone, typically resulting in decreased size |
| impaired righting response | reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position |
| vestibular ganglion degeneration | loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus |
| abnormal innervation | the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target |
| abnormal fungiform papillae morphology | any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue |
| abnormal type I vestibular cell | any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae |
| abnormal sensory ganglion morphology | any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells |
| decreased pulmonary respiratory rate | fewer than the normal number of breaths per minute |
| abnormal barrel cortex morphology | any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae |
| abnormal colon goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| excessive scratching | compulsive scraping of the skin, usually with the nails |
| abnormal xiphoid process morphology | any structural anomaly of the caudal tip of the sternum |
| renal tubular acidosis | A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. |
| stomach epithelial hyperplasia | overdevelopment or increased size, usually due to an increase in the number of cells, of the epithelial layer of the stomach |
| decreased circulating bicarbonate level | reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood |
| abnormal duodenum morphology | any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum |
| gastric cyst | presence of one or more abnormal membranous sacs in the wall of the stomach |
| respiratory acidosis | Acidosis because of respiratory retention of carbon dioxide. |
| abnormal immunoglobulin level | An abnormal deviation from normal levels of immunoglobulins in blood. |
| decreased IgE level | less than normal immunoglobulin class E level |
| decreased B-1 B cell number | reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity |
| decreased IgG1 level | less than normal immunoglobulin class G1 level |
| hypopnea | breathing that is shallower and/or slower than normal |
| abnormal olfactory bulb development | abnormality in the progression of the formation of the olfactory bulb |
| abnormal spinal cord ventral horn morphology | any structural anomaly of the ventral grey column of the spinal cord |
| chromatolysis | the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons |
| abnormal cerebellar cortex morphology | any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function |
| abnormal cortical plate morphology | any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers |
| decreased corpus callosum size | smaller thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres |
| abnormal subplate morphology | any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate |
| abnormal cerebral cortex pyramidal cell morphology | any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex |
| decreased striatum size | reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking |
| increased brain weight | greater than average weight of the brain |
| abnormal response to CNS ischemic injury | altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system |
| increased kidney weight | greater weight of the organs responsible for urine secretion |
| increased hematopoietic stem cell number | greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages |
| decreased seminal vesicle weight | reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| abnormal neuronal precursor proliferation | any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division |
| increased neuronal precursor cell number | increased number of the neuroblast embryonic cells that develop into nerve cells or neurons |
| increased cellular sensitivity to ultraviolet irradiation | greater incidence of cell death following exposure to ultraviolet irradiation |
| decreased physiological sensitivity to xenobiotic | increase in the dose or concentration of a foreign compound required to induce a specific level of physiological response |
| increased white fat cell number | increase in the number of fat cells with light coloration and few mitochondria |
| increased inguinal fat pad weight | greater than average weight of the encapsulated adipose tissue found in the groin |
| increased parametrial fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament |
| abnormal prostate gland dorsolateral lobe morphology | any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle |
| abnormal hematopoietic stem cell physiology | any functional anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages |
| abnormal junctional epithelium morphology | any structural anomaly of the collar-like band of non-keratinized squamous epithelium that attaches the gingival soft tissue to the tooth surface; the term epithelial attachment refers to the attachment apparatus, i.e. the internal basal lamina and hemidesmosomes, that connects the junctional epithelium (JE) to the tooth surface; in the initiation of periodontitis, JE detaches from the tooth surface and converts gradually, by sprouting laterally and migrating apically, to pathological pocket epithelium |
| increased DNA replication | any anomaly in the chemical reactions and pathways resulting an increase in new strands of DNA being synthesized |
| decreased prostate gland dorsolateral lobe weight | reduction in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle |
| increased thymocyte number | greater than expected number of immature T cells located in the thymus |
| increased thymus weight | greater than average weight of the primary lymphoid organ that is required for maturation of T cells |
| abnormal pituitary intermediate lobe morphology | any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| pituitary intermediate lobe hyperplasia | overdevelopment or increased size, usually due to increased cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| prolonged estrous cycle | increase in the length of the estrous cycle |
| prolonged estrus | increase in the length of the estrous phase of the estrous cycle in female animals |
| increased pituitary gland tumor incidence | greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period |
| increased body size | larger than average body weight, height and/or length of an organism compared to controls |
| enlarged adrenal glands | increased size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| abnormal ovarian follicle morphology | any structural anomaly of the sac-like structure in the ovary which surrounds an ovum |
| enlarged testis | |
| testicular hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the testes |
| increased pituitary adenoma incidence | greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period |
| thymus hyperplasia | Enlargement of the thymus. |
| enlarged thymus | increased size of thymus |
| increased T cell number | greater than normal T cell numbers |
| enlarged ovary | increased size of the female reproductive gland containing the germ cells |
| enlarged prostate gland | increased size of the gland in males that secretes part of the seminiferous fluid |
| increased amacrine cell number | increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina |
| adrenal medulla hyperplasia | overdevelopment or increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells, usually due to an increase in the number of cells |
| abnormal granulosa cell morphology | any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle |
| increased pituitary gland weight | greater than average weight of the compound gland suspended from the base of the hypothalamus |
| endometrium hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| abnormal retina outer limiting membrane morphology | any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier |
| absent tertiary ovarian follicles | absence of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| pituitary gland hyperplasia | overdevelopment or increased size, usually due to increased cell number, of the pituitary gland |
| enlarged pituitary gland | An abnormally increased size of the pituitary gland. |
| abnormal epithalamus morphology | any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle |
| abnormal long bone epiphysis morphology | any structural anomaly of the rounded end of a long bone |
| absent jejunum | missing portion of the small intestine that extends from the duodenum to the ileum |
| abnormal ileum morphology | any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon |
| abnormal soft palate morphology | any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult |
| abnormal hard palate morphology | any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult |
| meteorism | condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching |
| palatal shelves fail to meet at midline | polarized growth towards the midline following palatal shelf elevation does not occur |
| increased midbrain apoptosis | increase in the number of cells of the midbrain undergoing programmed cell death |
| abnormal digestive system morphology | any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food |
| delayed sexual maturation | immaturity of the sexual organs at a given age |
| dysphagia | Difficulty in swallowing. |
| abnormal testis development | abnormal morphogenesis of the male reproductive gland containing the germ cells |
| abnormal spongiotrophoblast layer morphology | any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors |
| enlarged placenta | increased size of the size or shape of the organ of metabolic interchange between fetus and mother |
| increased placenta weight | increase in the weight of the organ of metabolic interchange between fetus and mother |
| abnormal intramembranous bone ossification | anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed |
| hydrometra | an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed |
| abnormal prostate gland development | anomaly in the formation or pattering of the of the prostate gland |
| abnormal seminal vesicle development | aberrant or incomplete differentiation of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles develop from the segments of the Wolffian ducts immediately adjacent to the urogenital sinus |
| small inner medullary pyramid | reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules |
| abnormal kidney medulla development | anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids |
| abnormal jejunum morphology | any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum |
| split sternum | |
| increased lens epithelium apoptosis | increase in the number of lens epithelial cells undergoing programmed cell death |
| increased fibrohistocytoma incidence | |
| abnormal retina ganglion layer morphology | any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain |
| retina detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| abnormal lens capsule morphology | any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens |
| binocular blindness | loss of vision in both eyes, may be transient |
| abnormal retina inner nuclear layer morphology | any structural anomaly of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells |
| increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| abnormal spermatocyte morphology | any structural anomaly of male germ cells that through meiosis give rise to spermatids |
| primary vitreous hyperplasia | overdevelopment or increased size of the primary vitreous, usually due an increased number of cells |
| increased acute lymphoblastic leukemia incidence | |
| persistent hyperplastic primary vitreous | NT MGI. |
| increased B cell derived lymphoma incidence | higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes |
| increased spleen white pulp amount | increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies |
| increased cutaneous melanoma incidence | greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period |
| abnormal spleen marginal zone morphology | any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens |
| lymphoid hyperplasia | overdevelopment or increased size, usually due to increased cell number, of lymphatic tissues |
| abnormal lymphocyte morphology | any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells |
| lymph node hyperplasia | increase in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in increased size |
| abnormal lymph node germinal center morphology | any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells |
| mammary gland hyperplasia | overdevelopment or increased size of the mammary gland, usually due an increased number of cells |
| cortical renal glomerulopathies | any disease of the capillary plexus in the kidney cortex |
| increased testis tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass, occurring in a specific population in a given time period |
| abnormal mammary gland epithelium morphology | any structural anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion |
| abnormal thymus size | deviation from the normal size of the thymus |
| testicular atrophy | Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. |
| increased male germ cell apoptosis | increase in the number of male germ cells undergoing programmed cell death |
| multinucleated giant male germ cells | presence of large cells containing multiple nuclei formed abnormal opening of the cytoplasmic bridges that are part of normal germ cell division |
| failure of embryo implantation | inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development |
| increased colon adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period |
| increased intestinal adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period |
| vertebral transformation | homeotic transformation of a specific vertebrae to adopt the fate of another |
| absent inner cell mass proliferation | |
| abnormal cell nucleus morphology | any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent |
| abnormal inner cell mass proliferation | any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division |
| increased inner cell mass apoptosis | increased number of cells of the blastocyst that develop into the body of the embryo undergoing programmed cell death |
| failure of blastocyst to hatch from the zona pellucida | the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur |
| embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| abnormal basal ganglion morphology | any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus |
| decreased bone marrow cell number | |
| kidney vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the organ of secretion |
| kidney hemorrhage | bleeding in the organ of excretion |
| absent cerebellar foliation | missing small branches of the cerebellar lobules |
| thin external granule cell layer | reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells |
| increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| failure of vascular branching | failure of vasculature to form divisions (offshoots) |
| decreased vascular endothelial cell number | less than normal number of cells lining the vasculature |
| abnormal embryonic growth/weight/body size | limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) |
| maxilla hypoplasia | |
| broad nasal bridge | wider than normal upper part of the ridge of the nose |
| nasal bone hypoplasia | decrease in the number of normal cells in normal arrangement in the nasal bone, typically resulting in decreased size |
| abnormal cell differentiation | anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history |
| decreased triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| abnormal long-term object recognition memory | anomaly in long-term memory for objects that is consolidated over hours and days after training |
| decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| increased circulating leptin level | greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance |
| wide frontal bone | increased width of the bone forming the forehead and roof of the eye orbit |
| abnormal tumor necrosis factor level | deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| decreased fat cell size | reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals |
| increased circulating adiponectin level | greater than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue |
| abnormal granulocyte morphology | any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils |
| decreased hematopoietic stem cell number | reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages |
| abnormal common myeloid progenitor cell morphology | any structrual anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage |
| abnormal leukocyte morphology | any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue |
| decreased common myeloid progenitor cell number | reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages |
| increased hemolymphoid system tumor incidence | greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period |
| xiphoid process foramen | the appearance of a hole or holes in the caudal tip of the sternum |
| increased cranium width | having an increased side-to-side, or lateral distance of the cranium |
| otic hypertelorism | greater than normal space between the outer ears |
| abnormal thyroid gland development | failure or abnormality in the formation of the thyroid gland during organogenesis |
| abnormal heart left atrium morphology | any structural anomaly of the left upper chamber of the heart |
| dilated heart right atrium | the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid |
| short frontal bone | reduced length of the bone forming the forehead and roof of the eye orbit |
| decreased cranium height | decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull |
| aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| abnormal parathyroid gland development | aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone that regulates calcium and phosphorous metabolism; in mouse, the parathyroids develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; in the adult mouse, the parathyroids are located near or embedded within the thyroid gland, and the thymus is situated in the anterior chest cavity |
| cellular necrosis | pathologic death of cells, usually from irreversible damage |
| absent optic placodes | absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles |
| enlarged allantois | increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels |
| abnormal cephalic neural fold morphology | any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo |
| abnormal heart right ventricle morphology | any structural anomaly of the right lower chamber of the heart |
| dilated heart | stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid |
| absent conotruncal ridges | absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum |
| enlarged sebaceous gland | increased size of the sebum secreting glands of the hair shaft |
| epidermal hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the epidermis |
| acanthosis | |
| abnormal immune system organ morphology | any structural anomaly of lymphoid organs |
| thymus atrophy | acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| hypergranulosis | increased thickness of the granular layer of the epidermis |
| orthokeratosis | thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer |
| rough coat | coat does not have the usual smooth appearance |
| amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| thick dermal layer | increased depth of the dermis |
| thick epidermis | increase in the width of the epidermal cell layer in the skin |
| scaly skin | skin covered with shedding scales |
| shiny skin | skin with a glossy or glistening appearance |
| hyperkeratosis | Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. |
| abnormal thyroid hormone level | aberrant concentration of any of the hormones secreted by the thyroid gland |
| decreased thyroxine level | less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism |
| increased regulatory T cell number | greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity |
| increased keratinocyte proliferation | increase in the expansion rate of keratinocytes by cell division |
| hair follicle outer root sheath hyperplasia | increase in the number of normal cells in normal arrangement in the hair follicle outer root sheath, typically resulting in increased size |
| dilated piliary canal | stretched or widened aperture of the luminal space of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft; the infundibulum is the opening of the hair canal to the skin surface |
| absent circulating adrenaline | absence in the circulation of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| absent circulating noradrenaline | absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| blistering | |
| thin epidermis stratum granulosum | decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis |
| oral mucosa blisters | localized pockets of fluid that form within or beneath the oral mucosa; may appear as pustules, vesicles, or bullae; color varies according to content of blister, which may include blood, serum, mucin, or suppuration |
| increased IgE level | An abnormally increased level of immunoglobulin E in blood. |
| cutaneous mastocytosis | |
| mouth mucosal ulcer | lesions through the mucous membrane of the mouth, usually associated with loss of tissue |
| acantholysis | The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. |
| abnormal B cell morphology | any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens |
| absent B-1 B cells | |
| abnormal inner cell mass morphology | any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues |
| embryonic lethality at implantation, complete penetrance | death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5) |
| distorted hair follicle pattern | twisted or contorted configuration of the arrangement of hair follicles in the skin |
| increased blood urea nitrogen level | high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function |
| thin cerebral cortex | decreased depth of the mantle covering the surface of the cerebral hemispheres |
| dilated kidney collecting duct | stretched or widened aperture of the luminal space of the collecting ducts |
| abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle |
| abnormal corpora quadrigemina morphology | any structural anomaly of the inferior and superior colliculus |
| decreased anterior vermis size | smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum |
| abnormal cerebellar lobule formation | anomaly in the formation of the lobes of the cerebellum |
| absent cerebellar lobules | missing lobes of the cerebellum |
| abnormal nail morphology | any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| abnormal autopod morphology | any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits) |
| abnormal eccrine sweat gland morphology | any structural anomaly of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present |
| ectopic digits | positional abnormality of a digit |
| truncated digits | absence of the most distal region of the digits |
| thin apical ectodermal ridge | decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme |
| absent oculomotor nerve | missing nerve of the extraocular muscles, iris and ciliary body |
| absent cerebellum | missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement |
| abnormal hair follicle dermal papilla morphology | any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts |
| decreased inferior colliculus size | decreased size of the paired inferior eminence of the mesencephalic tectum |
| abnormal digit pigmentation | anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment |
| abnormal sternebra morphology | any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| abnormal cerebellum posterior vermis morphology | any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure |
| increased defecation amount | increase in the amount of discharge of feces from the body |
| decreased atrioventricular cushion size | smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal |
| motor neuron degeneration | retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses |
| abnormal PNS glial cell morphology | any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons |
| absent Schwann cell precursors | missing progenitors of cells that sheath the axons of the peripheral nervous system |
| abnormal nursing | females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently |
| bidirectional circling | circling behavior exhibited in both clockwise and counterclockwise directions |
| abnormal endocochlear potential | any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis |
| head shaking | repetitive movement of the head in the horizontal plane |
| abnormal otolithic membrane morphology | any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia) |
| detached tectorial membrane | tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus |
| vestibular saccular macula degeneration | degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule |
| absent cochlear microphonics | absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound |
| absent cochlear nerve compound action potential | absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve |
| pillar cell degeneration | degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti |
| abnormal hearing electrophysiology | anomaly in auditory function as it relates to electrical phenomena |
| increased curvature of auchene hairs | greater bending arch of the auchene hairs |
| increased curvature of awl hairs | greater bending arch of the awl hairs |
| increased curvature of guard hairs | greater bending arch of the guard hairs |
| increased curvature of zigzag hairs | greater bending arch of the zigzag hairs |
| abnormal ectoplacental cone morphology | any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta |
| absent organ of Corti | absence of the highly specialized epithelium in the floor of the ductus cochlearis |
| single kidney | |
| abnormal common crus morphology | any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear |
| abnormal wound healing | aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means |
| distended abdomen | abdomen appears curved outward or swollen |
| skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| abnormal circulating enzyme level | aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions |
| jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| reticulocytosis | An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. |
| anisocytosis | Abnormally increased variability in the size of erythrocytes. |
| polychromatophilia | condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains |
| increased circulating bilirubin level | increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| decreased hemoglobin content | decrease in the total hemoglobin content in the circulating blood |
| increased porphyrin level | elevated concentration of porphyrins or protoporphyrins |
| hypochromic anemia | |
| increased red blood cell distribution width | higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism |
| leptocytosis | the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state |
| increased erythrocyte protoporphyrin level | an accumulation of the intermediates of heme biosynthesis in red blood cells |
| decreased erythrocyte osmotic fragility | decreased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in chronic liver disease, iron deficiency anemia, thalassemia, hyponatremia, polycythemia vera, and sickle cell anemia after splenectomy |
| abnormal adipose tissue morphology | any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue |
| abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| abnormal intestinal epithelium morphology | any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus |
| abnormal urethra morphology | any structural anomaly of the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening |
| absent thyroid gland | lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin |
| absent pituitary gland | lack of the gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin |
| abnormal pulmonary trunk morphology | any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery |
| abnormal branching of the mammary ductal tree | anomaly in the development of the channels that secrete milk and direct milk to the nipple |
| pancreas fibrosis | |
| diaphragmatic hernia | |
| abnormal gastric chief cell morphology | any structural anomaly of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland |
| small pancreas | decrease of the size of the pancreas compared to controls |
| absent humerus | Missing humerus bone associated with congenital failure of development. |
| short incisors | reduced length of the set of long teeth that are the most anterior and prominent in the jaw |
| small molars | reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface |
| abnormal mammary fat pad morphology | any structural anomaly of the encapsulated adipose tissue associated with the mammary gland |
| abnormal heart atrium auricular region morphology | any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart |
| absent pulmonary artery | A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. |
| absent pulmonary vein | absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart |
| abnormal stomach submucosa morphology | any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa |
| absent lung buds | absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree |
| increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
| dilated kidney calyx | an expansion in the lumen volume or area of any of the branches of the renal pelvis that surround each renal papilla and collect urine |
| abnormal kidney outer medulla morphology | any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts |
| abnormal metanephric ureteric bud development | any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros |
| absent colon | absence of the portion of the large intestine between the cecum and the rectum |
| abnormal neurohypophysis development | aberrant formation or incomplete differentiation of the posterior lobe of the pituitary gland which develops as a neurohypophyseal bud, a depression in the neuroectoderm of the floor of the hypothalamus; the infundibulum, another diverticulum from the inferior aspect of the diencephalon, develops as an outgrowth of the neurohypophyseal bud and connects the neurohypophysis to the hypothalamus; the neurohypophysis develops as the infundibulum grows inferiorly from the diencephalon to meet the developing adenohypophysis (anterior pituitary lobe); the fully developed neurohypophysis consists of the infundibulum and the pars nervosa; the neural connection between the hypothalamus and pars nervosa is through the hypothalamohypophyseal tract that develops within the infundibulum |
| decreased trachea gland number | fewer than normal numbers of the tubuloacinar seromucous glands which are principally located in the submucosa of the trachea, open into the tracheal lumen through short ducts, and secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background |
| abnormal periderm development | abnormal formation of the outermost layer of the bilaminar embryonic/fetal epidermis; periderm cells emerge at approximately E9.5 and form simple squamous epithelium, the most superficial embryonic layer; these cells form the first, but temporary, embryonic permeability barrier, and are replaced by the cornified envelope, that forms during keratinocyte stratification, by E16.5 |
| decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| small hair follicle bulb | reduced size of the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells |
| abnormal limb muscle morphology | any structural anomaly in the muscles that are part of a limb |
| hyperlipidemia | Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. |
| increased intestinal adenocarcinoma incidence | higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine |
| melena | The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. |
| polycystic kidney | |
| abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
| colorless urine | absence of the usual straw-coloration of the urine |
| rectal hemorrhage | |
| absent male preputial gland | a lack of the sebaceous glands of the corona and neck of the glans penis |
| skin cyst | presence of one or more abnormal membranous sacs in any portion of the skin |
| small thyroid gland | reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin |
| abnormal dendritic cell physiology | any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity |
| abnormal paravertebral ganglion morphology | any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia |
| right-sided isomerism | anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen |
| abnormal skin pigmentation | anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment |
| abnormal corpus callosum morphology | any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres |
| abnormal hippocampal commissure morphology | any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side |
| ectopic neuron | appearance of a neuron or group of neurons in a region where it is not normally found |
| dilated brain ventricle | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| abnormal scalp morphology | any structural anomaly of the soft tissue envelope of the cranial vault that extends from the external occipital protuberance and superior nuchal lines to the supraorbital margins; it consists of 5 layers: the skin (and head hair), connective tissue, epicranial aponeurosis, loose areolar tissue, and pericranium; the first 3 layers are bound together as a single unit that can move along the loose areolar tissue over the pericranium, which is adherent to the calvaria |
| decreased ovary weight | reduction in the average weight of the female reproductive gland containing the germ cells |
| decreased susceptibility to bacterial infection | reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| increased susceptibility to parasitic infection | greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites |
| increased myocardial infarct size | increased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors |
| increased interleukin-4 secretion | increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| increased susceptibility to myocardial ischemic injury | more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls |
| absent blastocoele | developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo |
| abnormal preimplantation embryo development | an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos |
| failure of morula compaction | inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the formation of desmosomes and gap junctions, becoming nearly indistinguishable |
| failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| abnormal ribosome morphology | any anomaly in the structure of the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA |
| abnormal intracellular organelle morphology | any anomaly in the structure of the organized components of distincive morphology and function that occur within a cell |
| decreased circulating HDL cholesterol level | reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion |
| increased circulating LDL cholesterol level | greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions |
| abnormal cauda epididymis morphology | any structural anomaly of the tail of the epididymis |
| abnormal sperm physiology | anomaly in the normal function of spermatozoa |
| abnormal phospholipid level | anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group |
| disorganized corneal epithelium | derangement of the pattern of the smooth stratified squamous epithelium that covers the outer surface of the cornea |
| cornea perforation | a puncture or hole through the cornea stroma resulting from various diseases or trauma |
| abnormal touch/ nociception | change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes |
| abnormal thermal nociception | abnormal capability to sense pain elicited by thermal stimulation |
| abnormal response to tactile stimuli | anomaly in the reflex action normally induced by touch or pain |
| abnormal aggression-related behavior | domineering, assaultive or forceful physical action |
| decreased grooming behavior | reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) |
| hippocampal neuron degeneration | a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus |
| myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| abnormal retina cone bipolar cell morphology | any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells |
| abnormal retina rod bipolar cell morphology | any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells |
| retina ganglion cell degeneration | degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain |
| decreased retina cone cell number | reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment |
| thin retina inner nuclear layer | reduced thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells |
| retina gliosis | increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue |
| thick neurocranium | increased thickness of the bones of the skull enclosing the brain |
| abnormal bone marrow cell morphology/development | any structural anomaly of the cells found in the bone marrow |
| enlarged pancreas | increase of the size of the pancreas compared to controls |
| abnormal gastric gland morphology | any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin |
| lipofuscinosis | accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging |
| abnormal pancreatic acinar cell zymogen granule morphology | any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors |
| abnormal cerebellum white matter morphology | |
| abnormal pyloric gastric gland morphology | any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin |
| abnormal testis interstitial tissue morphology | any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone |
| small pharyngeal arch | reduced size of one or more of the branchial arches |
| decreased placental labyrinth size | reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| intestinal hemorrhage | bleeding into any segment of the small intestine and/or the large intestine |
| abnormal Reichert's membrane morphology | any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development |
| increased embryonic epiblast cell apoptosis | increase in the number of embryonic epiblast cells undergoing programmed cell death |
| abnormal amniotic cavity morphology | any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds |
| increased Reichert's membrane thickness | increased width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm |
| abnormal pericardium morphology | any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels |
| decreased ventricle muscle contractility | reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume |
| mitral valve atresia | congenital closure of the mitral valve |
| decreased hepatocyte proliferation | reduction in the expansion rate of the hepatocyte cell population by cell division |
| abnormal myocardium compact layer morphology | any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium |
| abnormal ventricle papillary muscle morphology | any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle |
| complete atrioventricular septal defect | a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect |
| muscular ventricular septal defect | The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. |
| aortopulmonary window | A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. |
| atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| heart block | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| ventricular myocardium compact layer hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular portion of the outer, dense layer of the myocardium |
| mitral valve stenosis | A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. |
| pulmonary artery stenosis | An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. |
| abnormal syncytiotrophoblast morphology | any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta |
| increased trophoblast glycogen cell number | greater number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta |
| prenatal lethality | death anytime between fertilization and birth (Mus: approximately E18.5) |
| abnormal heart looping | any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration |
| small ectoplacental cone | reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta |
| abnormal parietal yolk sac morphology | any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity |
| abnormal vertebral spinous process morphology | any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments |
| abnormal immune system cell morphology | any structural anomaly of immune cells |
| increased trophoblast giant cell number | greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta |
| abnormal decidualization | atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema |
| inner cell mass degeneration | a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo |
| absent primitive endoderm | absence of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo |
| abnormal kidney cortex morphology | any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts |
| abnormal bronchiole morphology | any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching |
| abnormal intestinal glucose absorption | any anomaly in the ability of the small intestine to absorb glucose into the bloodstream |
| exophthalmos | An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. |
| shallow orbits | Reduced depth of the orbits associated with prominent-appearing ocular globes. |
| abnormal zygomatic arch morphology | any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone |
| dilated proximal convoluted tubule | stretched or widened aperture of the luminal space of one or more of the proximal convoluted kidney tubules |
| dilated distal convoluted tubule | stretched or widened aperture of the luminal space of one or more of the distal convoluted kidney tubules |
| impaired lung lobe morphogenesis | failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung |
| split sternal manubrium | the appearance of an abnormal division of the cranial most segment of the sternum |
| absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| premature coronal suture closure | early closure of the coronal suture of the skull |
| abnormal skin morphology | any structural anomaly of the membranous protective covering of the body |
| abnormal keratinocyte morphology | any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum |
| hypospadia | a urethral opening located below the normal location; in males, the opening is usually on the ventral surface of the penis, and in females, the opening is usually in the vagina |
| delayed intramembranous bone ossification | late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle |
| abnormal interventricular groove morphology | any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior |
| atrium hypoplasia | underdevelopment or reduced size of one or both of the two upper chambers of the heart, usually due to reduced cell number |
| abnormal left posterior bundle morphology | any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber |
| conotruncal ridge hypoplasia | underdevelopment or reduced size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum |
| abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the glandular stomach consists of, from inside to outside, simple columnar epithelium containing gastric glands, the lamina propria (epithelium and lamina propria form the glandular mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa; the gastric glands lined by simple columnar epithelium form deep gastric pits (foveolae) that are perpendicular to the wall of the stomach; three types of gastric glands exist; the cardiac glands, located near the limiting ridge, contain mucous cells; the pyloric glands also contain mucous cells; the fundic glands, which make up the majority of the gastric glands, contain a variety of cells: mucous neck cells, small, basophilic chief cells, and large, round parietal cells with a granular eosinophilic cytoplasm |
| disproportionate dwarf | abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size |
| decreased circulating follicle stimulating hormone level | less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| increased circulating growth hormone level | greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization |
| seminal vesicle hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of one of the two folded, sac shaped glands that is a diverticulum of the ductus deferens |
| ovary hypoplasia | |
| decreased circulating estradiol level | less than the normal blood concentration of this most potent naturally occurring estrogen in mammals |
| abnormal reproductive system development | developmental anomaly of any of the organs involved in the reproductive system |
| decreased bone mass | a reduction in the total amount of bone tissue contained in the skeleton |
| decreased cysteine level | reduction in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 |
| decreased circulating cysteine level | reduction in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 |
| immotile sperm | complete absence of sperm motility |
| failure of copulatory plug deposition | inability to initiate and/or complete the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation |
| increased ectoderm apoptosis | increase in the number of ectoderm cells undergoing programmed cell death during development |
| subcapsular cataract | A cataract that affects the region of the lens directly beneath the capsule of the lens. |
| absent heart right ventricle | missing the lower right chamber of the heart |
| abnormal first pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis |
| dilated aortic sac | abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates |
| absent second pharyngeal arch artery | failure to develop or absence of the second pharyngeal arch artery |
| abnormal bone strength | change in the ability of bone to endure the application of force without yielding or breaking |
| enhanced wound healing | increased ability to self-repair and close wounds |
| delayed wound healing | longer time requirement for the ability to self-repair and close wounds than normal |
| abnormal bone remodeling | aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively |
| vitreous body inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body |
| increased tumor growth/size | greater than expected development of tumorous growth when compared to controls |
| abnormal osteoblast morphology | any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell |
| decreased osteoblast cell number | reduction in the number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| posterior subcapsular cataract | A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. |
| cortical cataract | A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. |
| abnormal antigen presentation via MHC class II | anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells |
| abnormal level of surface class II molecules | deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface |
| abnormal CD4-positive, alpha-beta T cell physiology | any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| abnormal positive T cell selection | any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death |
| abnormal complement pathway | impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes |
| impaired complement alternative pathway | abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces |
| abnormal mammary gland growth during pregnancy | anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation |
| hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| short hair | reduced average length of the hairs |
| abnormal hair cortex keratinization | any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity |
| abnormal mammary gland morphology | any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk |
| abnormal lactation | atypical production of milk from the mammary gland |
| enlarged aortic valve | an increase in the total area occupied by the aortic valve |
| increased aggression towards humans | when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans |
| increased aggression towards mice | when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice |
| decreased exploration in new environment | less amount of time spent investigating a new location |
| abnormal retina inner plexiform layer morphology | any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites |
| abnormal retina nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| enlarged brain ventricles | increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| aortic valve regurgitation | |
| increased left ventricle systolic pressure | increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries |
| prolonged PR interval | Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). |
| prolonged RR interval | increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate |
| increased eosinophil cell number | |
| impaired neutrophil chemotaxis | defect in the movement of neutrophils guided by a specific chemical concentration gradient |
| impaired leukocyte tethering or rolling | reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation |
| abnormal cardinal vein morphology | any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column |
| decreased anxiety-related response | when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests |
| absent long-term depression | lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons |
| abnormal corticosterone level | anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion |
| abnormal artery morphology | any structural anomaly of the blood vessels that carry blood away from the heart |
| increased cardiomyocyte apoptosis | increase in the number of cardiac muscle cells undergoing programmed cell death |
| abnormal heart left ventricle morphology | any structural anomaly of the left lower chamber of the heart |
| decreased uterine NK cell number | reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy |
| increased placenta apoptosis | increase in the number of cells of the placenta undergoing programmed cell death |
| abnormal placenta intervillous maternal lacunae morphology | any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project |
| abnormal placenta fetal blood space morphology | any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi |
| abnormal uterine spiral artery remodeling | any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascular resistance and increasing uteroplacental blood flow; this process involves loss of smooth muscle and elastic lamina from the vessel wall, and significant dilation at the mouth of the vessel; impaired spiral artery remodeling has been implicated in preeclampsia, fetal growth restriction, and preterm labor |
| absent mouth | absence of the oral cavity |
| absent snout | absence of the anterior facial part of the face or muzzle containing the oral and nasal regions |
| abnormal adrenal gland secretion | altered ability of the surparenal gland to produce or secrete hormones |
| absent sternum | missing long flat bone of the chest; articulates with clavicle and first seven rib pairs |
| absent pericardium | absence of the fibroserous membrane covering the heart and beginning of the great vessels |
| retroesophageal right subclavian artery | the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch |
| absent clavicle | missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula |
| absent maxilla | missing the upper bony framework of the mouth where the superior teeth are held |
| absent retina ganglion layer | absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain |
| thoracoabdominoschisis | a congenital fissure of both the thoracic and abdominal walls |
| abnormal neural fold elevation formation | any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm |
| decreased primordial germ cell number | reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge |
| decreased primordial ovarian follicle number | fewer than normal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles |
| glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| decreased kidney weight | reduced weight of the organs responsible for urine secretion |
| pale kidney | kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition |
| podocyte foot process effacement | a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane |
| abnormal renal tubule epithelium morphology | any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces |
| kidney degeneration | a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine |
| small ureteric bud | reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme |
| abnormal nephrogenic zone morphology | any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation |
| increased kidney apoptosis | increase in the number of cells of the kidney undergoing programmed cell death |
| increased renal glomerulus apoptosis | increase in the number of cells of the kidney glomerulus undergoing programmed cell death |
| renal tubule hypertrophy | increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement |
| mesangiolysis | an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis |
| abnormal glomerular capillary endothelium morphology | any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms |
| renal glomerular synechia | presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule |
| abnormal glomerular capsule parietal layer morphology | any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium |
| decreased glomerular capsule space | reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries |
| podocyte hypertrophy | increase in the bulk size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, due to cell enlargement |
| round snout | appearance of the anterior facial part of the face or muzzle containing the oral and nasal regions is more circular than usual |
| abnormal developmental vascular remodeling | any anomaly in the process by which existing vessels are reorganized during development |
| abnormal thymus involution | premature or late decline in thymic function normally associated with advancing age |
| abnormal CD4-positive, alpha beta T cell morphology | any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| abnormal CD8-positive, alpha beta T cell morphology | any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| increased double-negative T cell number | greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 |
| increased compensatory renal growth | increased additional growth of a kidney upon removal of the other kidney through surgery or disease |
| abnormal pericyte morphology | any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels |
| increased T cell apoptosis | increase in the number of T cells undergoing programmed cell death |
| abnormal primordial ovarian follicle morphology | any structural anomaly in the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles |
| abnormal induced retina neovascularization | any anomaly in the response to conditions which induce the pathological growth of vessels into the retina |
| small metanephros | reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord |
| abnormal kidney interstitium morphology | any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure |
| increased kidney cell proliferation | increase in the expansion rate of any kidney cell population by cell division |
| parietal capsular epithelium metaplasia | a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium |
| abnormal sympathetic neuron morphology | any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations |
| abnormal superior cervical ganglion morphology | any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck |
| abnormal L3 dorsal root ganglion morphology | any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra |
| decreased cytotoxic T cell cytolysis | impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane |
| abnormal platelet physiology | |
| increased susceptibility to noise-induced hearing loss | greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea |
| abnormal ileum crypts of Lieberkuhn morphology | any structural anomaly of the intestinal crypts located in the mucosa of the ileum, the portion of the small intestine that extends from the jejunum to the colon |
| abnormal jejunum crypts of Lieberkuhn morphology | any structural anomaly of the intestinal crypts located in the mucosa of the jejunum, the portion of the small intestine that extends from the duodenum to the ileum |
| abnormal CNS synapse formation | any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron |
| abnormal seminiferous tubule epithelium morphology | any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule |
| decreased paired-pulse facilitation | reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus |
| decreased post-tetanic potentiation | reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses |
| vascular inflammation | local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel |
| increased IgA level | An abnormally increased level of immunoglobulin A in blood. |
| abnormal B cell proliferation | anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli |
| increased susceptibility to autoimmune disorder | greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides |
| thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| increased autoantibody level | elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease |
| increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
| increased anti-single stranded DNA antibody level | increase in the level of antibodies that recognize single stranded DNA |
| increased anti-nuclear antigen antibody level | elevated level of antibodies to nuclear antigens present in the sera |
| increased anti-histone antibody level | elevated level of antibodies to histones present in the sera |
| increased CD4-positive, alpha-beta T cell number | greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| increased CD8-positive, alpha-beta T cell number | greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| increased follicular B cell number | greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes |
| increased marginal zone B cell number | greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| increased transitional stage B cell number | greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection |
| increased immature B cell number | greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity |
| decreased B cell apoptosis | reduction in the timing or the number of B cells undergoing programmed cell death |
| abnormal splenic cell ratio | deviation from the standard ratios of splenocyte subpopulations compared to control samples |
| increased splenocyte number | increase in the expected number of cells of the spleen |
| renal cast | any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts) |
| glomerular crescent | formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft |
| renal glomerular immunoglobulin deposits | any anomalous accumulation of immunoglobulins in the renal glomerulus |
| spleen atrophy | acquired diminution of the size of the spleen associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| decreased spleen weight | reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets |
| increased B cell apoptosis | increase in the timing or the number of B cells undergoing programmed cell death |
| increased splenocyte apoptosis | increase in the number of spleen cells undergoing programmed cell death |
| short ears | reduced length of the ears |
| kyphoscoliosis | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| increased circulating calcium level | |
| increased circulating parathyroid hormone level | greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body |
| abnormal postural reflex | any anomaly in the responses that control the normal position of the trunk and extremities and/or posture |
| decreased urine calcium level | |
| enlarged parathyroid gland | increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism |
| pigmented parathyroid gland | presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism |
| parathyroid gland hyperplasia | |
| increased circulating magnesium level | |
| abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| abnormal conditioned taste aversion behavior | anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness |
| enhanced long-term potentiation | greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells |
| abnormal primitive streak elongation | any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length |
| absent inferior colliculus | absence of the paired inferior eminence of the mesencephalic tectum |
| abnormal cued conditioning behavior | anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| decreased fear-related response | reduced emotional response related to anticipation of specific pain or danger |
| abnormal pituitary gland morphology | any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe |
| reduced long-term depression | less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons |
| abnormal amygdala morphology | any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses |
| abnormal olfactory cortex morphology | any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors |
| impaired passive avoidance behavior | decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously |
| abnormal limbic system morphology | any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system |
| abnormal entorhinal cortex morphology | any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus |
| cardiomyopathy | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| abnormal muscle contractility | aberrant ability of a muscle to shorten or to develop increased tension |
| cardiac fibrosis | formation of fibrous tissue within the heart often resulting from inflammation or injury |
| abnormal muscle fiber morphology | any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated |
| abnormal sarcolemma morphology | any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses |
| increased extensor digitorum longus weight | increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle |
| increased soleus weight | increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot |
| increased circulating creatine kinase level | an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| abnormal circulating pyruvate kinase level | abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia |
| cardiac muscle necrosis | morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage |
| abnormal mesangial cell morphology | any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier |
| impaired basement membrane formation | defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components |
| abnormal intestinal goblet cell morphology | any structural anomaly of a goblet cell that is part of the epithelium of intestinal villus |
| abnormal visceral pleura morphology | any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes |
| myocardial fiber degeneration | deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| bowed radius | increased curvature of the short bone of the lateral forearm |
| abnormal palatal shelf elevation | any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| decreased renal glomerular filtration rate | less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time |
| uremia | |
| renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal nervous system morphology | any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions |
| abnormal myelin sheath morphology | any structural anomaly of the insulating envelope that surrounds nerve fibers or axons |
| abnormal liver physiology | |
| increased liver glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in liver |
| abnormal intestinal absorption | any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine |
| abnormal lung interstitium morphology | any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces |
| thick pulmonary interalveolar septum | increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium |
| flaky skin | shedding flakes on the skin |
| abnormal type II pneumocyte morphology | any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored |
| abnormal terminal bronchiole morphology | any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls |
| dilated terminal bronchiole tube | stretched or widened aperture of the luminal space of one or more of the terminal bronchiole tubes |
| abnormal skin appearance | anomaly in the visual aspect of the skin |
| decreased alveolar lamellar body number | reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| abnormal submandibular gland branching morphogenesis | anomaly in the process in which the branching structure of the submandibular gland is generated and organized |
| loss of dopaminergic neurons | loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event |
| absent ureteric bud | absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme |
| absent nephron | complete absence of functional filtering units in the kidney |
| abnormal respiratory system morphology | A structural anomaly of the respiratoy system. |
| increased systemic arterial diastolic blood pressure | abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed |
| increased systemic arterial systolic blood pressure | abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries |
| abnormal pulmonary gas exchange | anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood |
| abnormal pulmonary valve morphology | any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus) |
| abnormal heart right ventricle outflow tract morphology | any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| abnormal metencephalon morphology | any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii |
| abnormal cricoid cartilage morphology | any structural anomaly of the most inferior of the laryngeal cartilages |
| decreased hippocampal commissure size | reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side |
| decreased anterior commissure size | reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle |
| abnormal learning/memory/conditioning | altered ability to receive, store, process or recall informational stimuli |
| abnormal fear/anxiety-related behavior | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. |
| increased thigmotaxis | greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response |
| abnormal spatial reference memory | anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues |
| abnormal retina ganglion cell morphology | any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain |
| decreased brown adipose tissue amount | reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes |
| abnormal inguinal fat pad morphology | any structural anomaly of the encapsulated adipose tissue found in the groin |
| decreased circulating serum albumin level | |
| abnormal glycogen homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle |
| abnormal energy expenditure | Any anomaly in the utilization of energy (calories). |
| abnormal surfactant secretion | anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli |
| increased circulating tyrosine level | increase in the amount per unit of blood of tyrosine |
| increased litter size | greater numbers of live born pups in a litter compared to average |
| abnormal bile canaliculus morphology | any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts |
| abnormal respiration | anomaly in the movement of gases into and out of the lung |
| akinesia | Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. |
| long incisors | increased length of the set of long teeth that are the most anterior and prominent in the jaw |
| abnormal primitive endoderm morphology | any structural anomaly of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo |
| absent amnion | absence of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected |
| abnormal extraembryonic ectoderm morphology | any structural anomaly of the layer of the ectoderm of the extraembryonic tissue |
| absent visceral yolk sac | absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo |
| absent head fold | inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development |
| abnormal proamniotic cavity morphology | any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds |
| increased mean corpuscular volume | greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices |
| decreased mean corpuscular hemoglobin concentration | less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices |
| abnormal erythrocyte physiology | aberrant measurable or observable characteristic related to the function of or processes in the cells in the blood that carry oxygen, red blood cells |
| lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms |
| reduced enamel thickness | thin hard coating of the exposed portion of the tooth |
| abnormal enamel rod pattern | any anomaly in the orientation of the structural unit of tooth enamel |
| Deiters cell degeneration | degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities |
| abnormal crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes |
| abnormal lacrimal gland morphology | any structural anomaly of the glands that secrete tears |
| peritoneal inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera |
| dilated pancreatic duct | an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum |
| small cecum | reduced size of the large sac at the ileum and large intestine junction |
| decreased respiratory epithelial chloride transmembrane transport | decrease in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other |
| meconium ileus | Obstruction of the intestine due to abnormally thick meconium. |
| decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| dilated crypt of Lieberkuhn | an expansion in the volume or area of the lumen of one or more of the crypts of Lieberkuhn |
| intestinal mucus accumulation | increase in the amount of mucus contained within the lumin of the intestine |
| bradykinesia | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). |
| abnormal uterine cervix morphology | any structural anomaly of the lower opening of the uterus to the vagina |
| decreased uterus weight | reduction in the weight of the female organ of gestation |
| ileum hypertrophy | an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement |
| decreased intestinal epithelial sodium ion transmembrane transport | decrease in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other |
| dilated pancreatic acinus | the luminal space of one or more of the pancreatic acini are increased in volume or area, usually with an increase in contained fluid |
| impaired sperm migration in female genital tract | impaired ability of ejaculated sperm to migrate through the female genital tract and reach the oocyte at the site of fertilization, the ampullary region of the oviduct |
| abnormal trachea morphology | any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi |
| abnormal paranasal sinus morphology | any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity |
| abnormal gallbladder morphology | A structural anomaly of the gallbladder. |
| dilated gallbladder | abnormal distention of the gall bladder due to accumulation of fluid or bile |
| increased respiratory mucosa goblet cell number | greater number of the cells of the respiratory epithelial lining that produce and secrete mucins |
| abnormal Brunner's gland morphology | any structural anomaly of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes |
| abnormal trachea gland morphology | any structural anomaly of the tubuloacinar seromucous glands located principally in the submucosa of the trachea whose excretory ducts pass through the lamina propria to the tracheal lumen; they secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background |
| abnormal vas deferens morphology | A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. |
| decreased intestinal epithelial chloride transmembrane transport | decrease in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other |
| crypts of Lieberkuhn abscesses | an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis |
| intestinal ulcer | lesions in the mucous lining of the intestine |
| acute pancreas inflammation | early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response |
| pancreatic acinar cell atrophy | acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| enlarged gallbladder | increased size of the gall bladder, the organ that serves as a storage reservoir for bile |
| lacrimal gland atrophy | acquired diminution of the size of any of the paired glands that secrete the aqueous layer of the tear film, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal intestine physiology | any functional anomaly of the digestive tube passing from the stomach to the anus |
| abnormal fluid regulation | any anomaly in the control of intracellular and/or extracellular fluid |
| abnormal ion homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues |
| abnormal pancreas physiology | any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream |
| dilated Brunner's gland | stretched or widened aperture of the luminal space of one or more of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes |
| abnormal small intestinal crypt cell physiology | any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine |
| abnormal small intestine goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| increased respiratory epithelial sodium ion transmembrane transport | increase in the directed movement of sodium ion from one side of the respiratory epithelial cell membrane to the other |
| abnormal bile duct morphology | any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines |
| gallbladder inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder |
| abnormal submucosal gland morphology | any structural anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane |
| decreased small intestinal villus number | fewer than normal numbers of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall |
| bile duct epithelium hyperplasia | increase in the number of normal cells in normal arrangement in the bile duct epithelium, typically resulting in increased size |
| preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| decreased eosinophil cell number | fewer than normal eosinophil numbers |
| decreased follicle stimulating hormone level | less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| decreased circulating progesterone level | reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy |
| hypaxial muscle hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue |
| decreased liver weight | reduced average weight of the bile-secreting exocrine gland |
| abnormal keratinocyte physiology | abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum |
| thin placenta labyrinth | decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| cardia bifida | failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts |
| lymphoid hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, in lymphatic tissue |
| narrow maxilla | |
| decreased glutamate decarboxylase activity | reduction in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 |
| decreased gamma-aminobutyric acid level | reduction in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system |
| increased anxiety-related response | when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests |
| increased coping response | enhanced ability to respond productively to a stressful situation |
| decreased aggression towards male mice | when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice |
| increased hindbrain size | greater than average size of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived |
| absent pharyngeal arch arteries | absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| absent lateral semicircular canal | absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance |
| decreased posterior semicircular canal size | small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| decreased superior semicircular canal size | small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| absent inner ear vestibule | absence of the cavity between the semicircular canals and the cochlea of the inner ear |
| abnormal xenobiotic pharmacokinetics | any anomaly in the absorption, distribution, metabolism or elimination of a foreign compound |
| absent optic nerve | absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain |
| abnormal mitochondrial ATP synthesis coupled electron transport | anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV |
| increased mitochondrial size | enlarged the cellular organelles responsible for energy production |
| disorganized mitochondrial cristae | derangement of the pattern of the inward folds of the mitochondrial inner membrane |
| decreased mitochondrial DNA content | less than expected amount of DNA contained within the mirochondria of a eukaryotic cell |
| utricular macular degeneration | degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle |
| abnormal otolith organ morphology | any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity |
| abnormal vestibular labyrinth morphology | any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts |
| abnormal primordial germ cell migration | any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development |
| abnormal lacrimal gland physiology | any functional anomaly of the glands that secrete tears |
| thin ribs | Ribs with a reduced diameter. |
| ovary hemorrhage | presence of bleeding in the ovary |
| abnormal nasolacrimal duct morphology | any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity |
| polyovular ovarian follicle | an ovarian follicle containing more than one oocyte (ovum) |
| abnormal aortic valve cusp morphology | any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve |
| abnormal pulmonary valve cusp morphology | any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve |
| thick pulmonary valve cusps | an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness |
| abnormal exorbital lacrimal gland morphology | any structural anomaly of the large exorbital (extra-orbital) lacrimal glands that are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| abnormal lacrimal gland branching morphogenesis | anomaly of the lacrimal gland bud to repeatedly divide into lobules during development of the lacrimal gland; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; branching is initiated between E15.5 and E16.5 from the tip of the lacrimal bud; by E18.5, the gland consists of an extensively branched exorbital lobe and a small intraocular lobe derived from a single branch of the proximal duct; branching and differentiation of lacrimal glands is complete by around eyelid opening |
| abnormal ovarian bursa morphology | any structural anomaly of the peritoneal recess between the medial aspect of the ovary and the mesosalpinx |
| abnormal ovarian cortex morphology | any structural anomaly of the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles |
| abnormal ovarian medulla morphology | any structural anomaly of the highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles |
| abnormal testis tunica albuginea morphology | any structural anomaly of the dense fibrous connective tissue layer that covers the testis |
| absent intraorbital lacrimal gland | absence of the small intra-orbital lacrimal gland that, in mice, is normally located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open |
| abnormal maxillary zygomatic process morphology | any structural anomaly of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces |
| enlarged maxillary zygomatic process | increased size of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces |
| increased mammary gland tumor incidence | greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal pancreatic beta cell physiology | anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas |
| ketosis | Presence of elevated levels of ketone bodies in the body. |
| abnormal styloglossus muscle morphology | any structural anomaly of the paired extrinsic tongue muscle that arises from the anterior surface of the styloid process of the mastoid bone and the proximal quarter of the stylohyoid ligament; it passes inferiorly and anteriorly to insert into the side and inferior aspects of the tongue; the muscle fibers of styloglossus merge with those of the hyoglossus; its action aids to retract the tongue and draw up the sides of the tongue to create a trough for swallowing |
| impaired embryo implantation | impaired ability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development |
| abnormal trophectoderm morphology | any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition |
| abnormal decidua capsularis morphology | any structural anomaly of the layer of uterine endometrium overlying the implanted chorionic vesicle and facing the uterine cavity |
| maternal effect | expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype |
| absent trophectoderm | absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition |
| abnormal epididymis morphology | any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| abnormal efferent ductules of testis morphology | any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis |
| absent retina cone cells | absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment |
| absent retina rod cells | absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane |
| disorganized photoreceptor outer segment | derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin |
| ectopic Sertoli cells | abnormal position of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis |
| embryonic lethality at implantation, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5) |
| decreased b-wave amplitude | reduction in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram |
| increased b-wave latency | increase in the time from onset of stimulus to beginning of the b-wave |
| abnormal Sertoli cell barrier morphology | any structural anomaly of the physical barrier found between adjacent Sertoli cells within the seminiferous tubules; the sertoli cell barrier consists of several types of cellular junctions including tight junctions, gap junctions and adhesion junctions, and divides the seminiferous tubules into the basal and apical (adluminal) compartments |
| abnormal embryo attachment | any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing |
| abnormal keratinocyte differentiation | developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum |
| increased susceptibility to injury | greater than the normal reaction to trauma, especially that by physical means |
| increased circulating progesterone level | increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy |
| abnormal parturition | defect in the process of labor and delivery in female animals |
| increased renal glomerular filtration rate | greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time |
| increased renal vascular resistance | greater than the normal force opposing blood flow in the kidney blood vessels |
| abnormal uterine environment | anomaly or inability of the uterus to support embryonic development |
| hypotonia | |
| abnormal response of heart to induced stress | change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| increased susceptibility to induced colitis | increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) |
| increased susceptibility to endotoxin shock | more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death |
| decreased platelet aggregation | |
| abnormal circadian regulation of heart rate | anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours |
| abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| decreased urine prostaglandin level | a reduced amount of any prostaglandin in the urine compared to the normal state |
| delayed parturition | the process of labor and delivery in female animals occurs later in gestation than expected or lack of progress in a labor already initiated |
| kidney medulla hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the inner portion of the kidney consisting of the renal pyramids |
| kidney corticomedullary cyst | presence of one or more abnormal membranous sacs in the corticomedullary junction of the kidney |
| pyelonephritis | |
| abnormal thrombosis | Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). |
| nephrocalcinosis | |
| renal interstitial fibrosis | |
| intestinal edema | Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. |
| impaired granulosa cell differentiation | atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle |
| abnormal kidney papilla morphology | any structural anomaly of the apex of the renal pyramid that projects into a calyx |
| abnormal cumulus expansion | anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization |
| abnormal kidney capsule morphology | any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage |
| tubulointerstitial nephritis | |
| kidney cortex atrophy | |
| impaired macrophage chemotaxis | reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions |
| increased angiogenesis | enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network |
| decreased left ventricle systolic pressure | decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries |
| increased left ventricle diastolic pressure | increase in the pressure in the left ventricle between heart beats when the heart is relaxed |
| increased heart left ventricle weight | greater than average weight of the left ventricle compared to the average |
| renal necrosis | morphological changes resulting from pathological death of renal tissue; usually due to irreversible damage |
| pale placenta | placenta lacking normal reddish coloration, often refers to bloodless condition |
| increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| uterine hemorrhage | presence of bleeding in the uterus; often in response to failed pregnancy |
| abnormal tumor vascularization | aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors |
| skin hemorrhage | bleeding into the skin |
| purpura | |
| increased miscarriage rate | increase in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother |
| lumbar vertebral transformation | homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae |
| blood vessel atresia | abnormal closure or absence of the lumen of one or more blood vessels |
| abnormal perineural vascular plexus morphology | any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and is recruited to surround the neural tube in response to VEGF; vascularization of the brain and spinal cord occurs via angiogenesis as sprouting vessels from the PNVP invade the neuroepithelium and grow inward toward the ventricular lumen |
| abnormal fetal growth/weight/body size | limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth) |
| impaired blood coagulation | impaired ability of the blood to clot |
| small thoracic cage | reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum |
| abnormal extraembryonic tissue physiology | any functional anomaly of the membranes involved with embryonic protection and nutrition |
| impaired placental function | |
| decreased embryo weight | reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) |
| brachydactyly | A bone development disease characterized by short fingers and toes. |
| abnormal smooth muscle morphology | any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. |
| abnormal internal anal sphincter morphology | any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter |
| non-pigmented tail tip | lack of color at the end of the tail |
| abnormal foot pigmentation | anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment |
| decreased mast cell number | fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation |
| brachyphalangia | |
| cryptorchism | |
| increased lumbar vertebrae number | increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| vas deferens hypoplasia | underdevelopment or reduced size of the vas deferens, usually due to a reduced number of cells |
| liver degeneration | deterioration of the liver due to injury or disease, often accompanied by loss of function |
| abnormal iris pigmentation | Abnormal pigmentation of the iris. |
| abnormal iris stroma morphology | any structural anomaly of the lamellated vascular connective tissue of the iris |
| cardiac interstitial fibrosis | formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process |
| impaired exercise endurance | impaired performance during controlled physical activity |
| decreased vertebrae number | |
| abnormal somite segmentation clock | anomaly or loss of the oscillatory mechanism governed by periodic shifts in gene expression and operating in the presomitic mesoderm that drives the regular periodicity with which somites are formed in the course of vertebrate segmentation. The total number of somites formed and the periodicity with which they are produced are species-specific parameters (e.g. humans have 33 somites with a somitogenesis period of approximately 6 hours while mice have 65 somites with a period of approximately 2 hours) |
| decreased immunoglobulin level | less than normal immunoglobulin level |
| hyperresponsive to tactile stimuli | exaggerated reflex action normally induced by touch or pain |
| decreased heart weight | less than average weight of the heart compared to controls |
| abnormal glial cell physiology | any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons |
| decreased heart left ventricle weight | less than average weight of the left ventricle compared to the average |
| decreased thermal nociceptive threshold | a lower than average point at which thermal pain sensation is first detectable |
| decreased tumor necrosis factor secretion | reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| decreased interleukin-6 secretion | reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| abnormal chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
| abnormal astrocyte physiology | any functional anomaly of one of the large neuroglia cells of nervous tissue |
| decreased microglial cell activation | decrease in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form |
| decreased susceptibility to Herpesvirales infection | decrease in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus |
| decreased susceptibility to Herpesvirales infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order |
| abnormal joint morphology | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| abnormal male reproductive system physiology | An abnormal functionality of the male genital system. |
| abnormal vertebral transverse process morphology | any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes |
| neuronal intranuclear inclusions | presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease |
| disorganized long bone epiphyseal plate | a lack of the regular arrangement of the cells or zones of the epiphyseal plate |
| decreased chondrocyte proliferation | decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population |
| wide cranial sutures | An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). |
| abnormal pulmonary alveolus epithelial cell morphology | any structural anomaly of the cells lining the alveoli |
| absent lung saccules | absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth |
| impaired branching involved in terminal bronchiole morphogenesis | partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized |
| increased wet-to-dry lung weight ratio | an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury |
| abnormal ethmoid bone morphology | any structural anomaly of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa |
| abnormal intervertebral disk development | any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae |
| abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| increased compact bone thickness | thicker than normal superficial layer of compact bone |
| absent frontal bone | absence of the bone forming the forehead and roof of the eye orbit |
| absent parietal bone | absence of the curved bone forming part of the vault of the cranium |
| short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| enlarged vertebral body | increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| abnormal ascending aorta and coronary artery attachment | any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta |
| abnormal conotruncus septation | anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk |
| conotruncal ridge hyperplasia | overdevelopment or increased size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum |
| absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| increased malignant tumor incidence | higher than normal incidence of locally invasive, destructive and metastatic tumors |
| increased endometrial carcinoma incidence | |
| enlarged Peyer's patches | increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles |
| increased hamartoma incidence | greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site |
| increased prostate gland tumor incidence | greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period |
| increased fibroadenoma incidence | greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period |
| increased prostate intraepithelial neoplasia incidence | |
| increased thyroid carcinoma incidence | greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period |
| absent fibroblast proliferation | failure of a fibroblast cell population to undergo expansion by cell division |
| abnormal cellular extravasation | any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue |
| abnormal interleukin level | deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli |
| decreased susceptibility to bacterial infection induced morbidity/mortality | reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| decreased energy expenditure | decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten |
| abnormal spleen germinal center morphology | any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| abnormal spleen periarteriolar lymphoid sheath morphology | any structural anomaly of the area of the spleen in which T cells surround the central arteriole |
| increased B-1 B cell number | |
| abnormal follicular dendritic cell antigen presentation | anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes |
| abnormal metallophilic macrophage morphology | any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus |
| abnormal spleen B cell follicle morphology | any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur |
| increased IgG3 level | greater than normal immunoglobulin class G3 level |
| abnormal synaptic norepinephrine release | aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus |
| absent immature B cells | absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity |
| abnormal lung volume | anomaly in the amount of air that the lungs contain at various points of the respiratory cycle |
| abnormal melanosome morphology | any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored |
| abnormal hair follicle melanogenesis | failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles |
| enlarged alveolar lamellar bodies | increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| increased alveolar lamellar body number | greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| increased lung compliance | increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure |
| dilated pulmonary alveolar duct | expansion or widening of the lumen of one or more of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli |
| paralysis | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. |
| abnormal pre-B cell morphology | any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface |
| abnormal B-1 B cell number | deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity |
| increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| decreased circulating interferon-gamma level | reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| abnormal NK cell physiology | |
| osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| increased bone resorption | greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts |
| decreased circulating interleukin-6 level | reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| dental pulp necrosis | |
| decreased circulating serum amyloid protein level | reduced levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis |
| abnormal lymph organ size | change in the normal size of lymphatic tissues |
| hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| abnormal T cell morphology | A structural T cell anomaly. |
| increased memory T cell number | increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive |
| increased IgG1 level | greater than normal immunoglobulin class G1 level |
| increased IgG2b level | greater than normal immunoglobulin class G2b level |
| abnormal sex gland morphology | any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction |
| increased activated T cell number | greater than normal numbers of effector T cells |
| increased susceptibility to autoimmune hemolytic anemia | greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely |
| decreased memory T cell number | reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive |
| increased plasma cell number | greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin |
| abnormal B cell activation | any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific |
| abnormal mononuclear cell morphology | any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form |
| abnormal hepatobiliary system morphology | any structural anomaly of any of the tissues of the liver or biliary system |
| abnormal lymph node morphology | any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched |
| intestinal inflammation | |
| impaired neutrophil phagocytosis | reduced ability of neutrophils to internalize particulate matter |
| ovary inflammation | |
| abnormal proerythroblast morphology | any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells |
| liver fibrosis | |
| epididymis inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| decreased dendritic cell number | reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation |
| abnormal cytokine level | deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells |
| abnormal interferon level | deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions |
| myeloid hyperplasia | greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue |
| abnormal antigen presentation | aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex |
| absent thymus medulla | lacking the inner area of thymus lobules |
| decreased susceptibility to parasitic infection | reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites |
| abnormal nasopharynx morphology | any structural anomaly of the section of the pharynx that lies above the soft palate |
| abnormal oropharynx morphology | any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis |
| dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| absent adrenal gland | absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| abnormal inferior vena cava morphology | any structural anomaly of the principal vein draining blood from the lower portion of the body |
| right aortic arch | Aorta descends on right instead of on the left. |
| ostium primum atrial septal defect | interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum |
| abnormal cardiac neural crest cell morphology | any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia |
| decreased cardiac neural crest cell number | reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia |
| absent cardiac neural crest cells | absence or loss of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia; ablation of cardiac NCCs results in cardiac outflow defects |
| abnormal hematopoietic system morphology/development | any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells |
| impaired natural killer cell mediated cytotoxicity | impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors |
| absent Peyer's patches | lymphoid tissue missing from the mucosa of the small intestine |
| abnormal class switch recombination | anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions |
| absent NK cells | absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells |
| decreased plasma cell number | reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin |
| abnormal alpha-beta intraepithelial T cell morphology | any structural anomaly of a alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| absent gamma-delta T cells | absence of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| absent gamma-delta intraepithelial T cell | absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| abnormal gamma-delta T cell differentiation | atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors |
| abnormal dendritic cell antigen presentation | anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes |
| abnormal dendritic cell differentiation | atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation |
| increased interferon-gamma secretion | increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| decreased interleukin-13 secretion | reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses |
| decreased interleukin-5 secretion | reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells |
| abnormal microglial cell morphology | any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques |
| decreased interleukin-10 secretion | reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation |
| thin endoderm | reduced thickness of the innermost germ layer of the embryo |
| abnormal midgut morphology | any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac |
| agonadal | denoting the absence of gonads |
| decreased gonadotroph cell number | reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) |
| absent testes | absence of the male reproductive glands containing the germ cells |
| decreased ventromedial hypothalamic nucleus size | decrease in the size of the ventromedial hypothalamic nucleus |
| abnormal emotion/affect behavior | An abnormality of emotional behaviour. |
| abnormal homeostasis | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| behavioral despair | depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli |
| abnormal object recognition memory | anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time |
| abnormal CNS glial cell morphology | any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons |
| abnormal exercise endurance | improved or impaired performance during controlled physical activity |
| abnormal bone healing | defects in the restoration of integrity to bone after trauma |
| abnormal brain interneuron morphology | any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types |
| abnormal involution of the mammary gland | anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost |
| abnormal neuron physiology | any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses |
| abnormal skeletal muscle satellite cell proliferation | anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease |
| abnormal acute phase protein level | deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection |
| abnormal inhibitory learning | anomaly in the process by which a subject learns to suppress a prior learned response |
| abnormal myoblast migration | any anomaly in the orderly movement of a myoblast from one site to another during development; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers |
| increased susceptibility to Poxviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus |
| abnormal gonadal ridge morphology | any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary |
| absent lymph nodes | absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched |
| abnormal alveolar process morphology | any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets |
| absent hard palate | absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult |
| abnormal vibrissa follicle morphology | any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species |
| long gestation period | increase in the average duration of a pregnancy |
| pregnancy-related premature death | death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation |
| abnormal mammary gland lobule morphology | any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland |
| galactostasis | abnormal accumulation of milk within the mammary gland alveoli and ducts due to failure of ejection (letdown) from the gland; may be associated with nipple anatomic abnormalities |
| abnormal T cell number | deviation from the normal count of T cells |
| opisthotonus | Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. |
| abnormal distal convoluted tubule morphology | any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system |
| absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| decreased glomerular capillary number | reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles |
| dilated glomerular capillary | stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole |
| decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance |
| abnormal hippocampus region morphology | any structural anomaly of a part or parts of the hippocampus that have a particular function |
| abnormal palatal rugae morphology | any structural anomaly in the series of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species; rugae are present on each side of the median palatal raphe and behind the incisive papillae, but their number and arrangement are species specific; together with the teeth and the tongue, rugae take part in mastication by helping to sense, hold and mash the food; rugae harbor various types of intraepithelial sensory structures (such as Merckel cells, corpuscular endings and free nerve endings), and play a sensory role when the food is pressed by the tongue against the hard palate |
| abnormal miniature excitatory postsynaptic currents | defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse |
| increased airway responsiveness | |
| decreased T helper 1 cell number | reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity |
| abnormal T-helper 1 cell differentiation | atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity |
| increased T-helper 2 cell number | greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy |
| heart hemorrhage | bleeding into the heart |
| abnormal coronary vessel morphology | any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation |
| decreased paraxial mesoderm size | reduced size or deficiency of the mesoderm lying at either side of the midline embryonic notochord that, on segmentation, forms the paired somites |
| right-sided stomach | stomach is present on the right side of the body instead of the left |
| lung situs inversus | |
| abnormal lung position or orientation | the lung is displaced from the normal position and/or has an altered left/right orientation |
| absent second pharyngeal arch | absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils |
| absent third pharyngeal arch | absence of the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus |
| abnormal gut-associated lymphoid tissue morphology | any structural anomaly of the regional immune system located in the gut |
| abnormal uterine NK cell morphology | any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy |
| small Peyer's patches | reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles |
| abnormal myometrium morphology | any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium |
| increased uterine NK cell number | increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy |
| abnormal skin physiology | any functional anomaly of the membranous protective covering of the body |
| brain ischemia | |
| abnormal physiological neovascularization | anomalies in the development of new blood vessels in restoration of blood circulation during the healing process |
| impaired neutrophil recruitment | reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions |
| abnormal leukocyte physiology | any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes) |
| small lymph nodes | lymph nodes of decreased size |
| decreased susceptibility to neuronal excitotoxicity | less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process |
| absent cardiac desmosomes | absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue |
| thick embryonic epiblast | increased thickness of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion |
| decreased embryonic epiblast cell proliferation | reduction in the expansion rate of the embryonic epiblast cells by cell division |
| abnormal cardiac muscle contractility | altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume |
| abnormal intercalated disk morphology | any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction |
| increased blinking frequency | greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly |
| abnormal paired-pulse facilitation | defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus |
| abnormal brain wave pattern | any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy) |
| abnormal temporal memory | anomaly in the ability to recall temporal events and stimuli |
| abnormal behavioral response to addictive substance | any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior |
| decreased behavioral withdrawal response | decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance |
| impaired liver regeneration | decrease in the renewal, repair, and/or regrowth of liver tissue following injury or disease |
| abnormal circadian behavior | any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours |
| delayed ear emergence | late onset of the growth of the outer ear |
| eyelids fail to open | eyes remain shut when eyelids are expected to be open |
| decreased susceptibility to ischemic brain injury | less severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls |
| abnormal nitric oxide homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator |
| impaired swimming | reduced ability or inability to swim |
| decreased startle reflex | greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch |
| unidirectional circling | circling behavior in one direction only, either clockwise or counterclockwise |
| increased circulating aldosterone level | |
| prolonged QT interval | increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| abnormal circulating renin level | aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I |
| abnormal feces composition | increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces |
| hypokalemia | |
| abnormal vestibular system physiology | any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head |
| abnormal vestibular dark cell morphology | any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph |
| vestibular dark cell degeneration | degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals |
| absent vestibuloocular reflex | absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system |
| abnormal gastrulation movements | failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers |
| abnormal neural plate morphology | any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest |
| embryonic lethality between somite formation and embryo turning, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) |
| abnormal neural fold morphology | any structural anomaly of the elevated margins of the neural groove |
| increased axial mesoderm size | greater than average size of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord |
| abnormal notochordal process morphology | any structural anomaly of the midline cellular cord formed from the migration of mesenchymal cells from the primitive knot; the notochordal process is a mesodermal hollow tube structure that grows cranially between the ectoderm and the endoderm until it reaches the prechordal plate |
| premature cranial suture closure | early closure of one or more of the joints (sutures) between the bones of the skull; can cause alterations in head shape, facial features, brain growth and, in rare cases, damage to the brain due to increased pressure inside the skull |
| craniofacial asymmetry | Asymmetry of the bones of the skull and the face. |
| midface hypoplasia | decrease in the number of normal cells in normal arrangement in the midface, typically resulting in decreased size and leading to a concave-looking face |
| facial asymmetry | An abnormal difference between the left and right sides of the face. |
| premature sagittal suture closure | early closure of the sagittal suture of the skull; premature closure of this suture results in a long, narrow, and boat-shaped skull (scaphocephaly) |
| premature metopic suture closure | early closure of the metopic suture of the skull; premature closure of this suture compromises the transverse growth of both the frontal bones and can cause a narrow, triangular shaped forehead (trigonocephaly) that is associated with orbital hypotelorism |
| increased osteoblast proliferation | increase in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| abnormal tail development | anomaly in the formation of the tail |
| neonatal lethality | |
| osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| calcified skin | pathologic deposition of calcium salts in the skin |
| calcified artery | |
| premature aging | |
| arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| ovary atrophy | acquired diminution of the size of the ovaries associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| uterus atrophy | acquired diminution of the size of the uterus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal circulating mineral level | any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival |
| abnormal gonadotroph morphology | any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) |
| decreased somatotroph cell size | reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin |
| decreased somatotroph secretory granule number | decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface |
| decreased subcutaneous adipose tissue amount | reduction in amount of adipose tissue beneath the skin |
| external male genitalia atrophy | acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| vulva atrophy | |
| calcified aorta | pathologic deposition of calcium salts in the aorta |
| calcified pulmonary alveolus | pathologic deposition of calcium salts in the pulmonary alveoli |
| decreased double-negative T cell number | reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 |
| abnormal mammary gland development | aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity |
| decreased mature ovarian follicle number | fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle |
| decreased circulating luteinizing hormone level | lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary |
| decreased circulating prolactin level | less than expected blood concentration of the hormone that stimulates milk secretion |
| increased ovary tumor incidence | greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period |
| absent nipple | Congenital failure to develop, and absence of, the nipple. |
| adenohypophysis hyperplasia | increase in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in increased size |
| abnormal single-positive T cell number | anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface |
| decreased gamma-delta T cell number | reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| decreased gamma-delta intraepithelial T cell number | reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| abnormal mechanical nociception | abnormal capability to sense pain elicited by mechanical stimulation |
| abnormal nervous system electrophysiology | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| abnormal hemoglobin | Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. |
| blotchy skin | regions of spotted discoloration appearing in the dermal tissue |
| abnormal PNS synaptic transmission | defect in the communication from a neuron to a target across a synapse in the peripheral nervous system |
| rostral-caudal axis duplication | partial or complete duplication of rostral-caudal axis structures |
| optic nerve degeneration | retrogressive pathologic change of the optic nerve |
| enlarged lateral ventricles | increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle |
| abnormal anterior corticospinal tract morphology | any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles |
| abnormal lateral corticospinal tract morphology | any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs |
| decreased brain internal capsule size | reduced size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord |
| impaired ability to fire action potentials | anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs |
| absent retina | absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain |
| flat forehead | A forehead with abnormal flatness. |
| abnormal calcium ion homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment |
| abnormal cochlear outer hair cell physiology | any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility) |
| absent outer hair cell stereocilia | complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells |
| absent distortion product otoacoustic emissions | failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion |
| decreased pancreatic beta cell mass | reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state |
| decreased pancreatic islet number | reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| abnormal pancreatic beta cell differentiation | atypical production of or inability to produce the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas, and/or accumulation of pancreatic beta cell precursors |
| increased pancreatic alpha cell number | increase in the number of the cells of the pancreas that secrete glucagon |
| decreased pancreatic beta cell proliferation | reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division |
| abnormal heart rate | greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute |
| abnormal sinoatrial node conduction | anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles |
| increased heart rate variability | increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle |
| abnormal sinus arrhythmia | any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle |
| abnormal myocardial fiber physiology | anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart |
| abnormal cochlear inner hair cell physiology | any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve |
| abnormal distortion product otoacoustic emission | any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs |
| sensorineural hearing loss | OMIM mapping confirmed by DO. [LS]. |
| sinus bradycardia | Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. |
| abnormal Ammon gyrus morphology | any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells |
| abnormal axon guidance | defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues |
| absent hippocampal fimbria | absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure |
| increased circulating potassium level | greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle |
| decreased circulating sodium level | |
| increased synaptic depression | increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation |
| impaired social transmission of food preference | defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues |
| vagina atrophy | acquired diminution of the size of the vagina associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| decreased primordial germ cell proliferation | reduced ability of a primordial germ cell population to undergo expansion by cell division |
| small seminal vesicle | reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| reproductive system inflammation | local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs |
| delayed vaginal opening | the opening of the genital canal in a female occurring at a later than expected age |
| absent Leydig cells | lack of the interstitial cells of the seminiferous tubules that secrete testosterone |
| prostate gland hypoplasia | underdevelopment or reduced size of the prostate, usually due to a reduced number of cells |
| abnormal anogenital distance | in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus |
| small penis | |
| decreased Leydig cell number | decreased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone |
| prostate gland inflammation | |
| scrotum hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the external sac of skin that encloses the testes |
| thin uterine horn | reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet |
| increased adrenal gland weight | greater average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| abnormal abdominal fat pad morphology | any structural anomaly of the encapsulated adipose tissue in the abdomen |
| abnormal vagina orifice morphology | any structural anomaly of the median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice |
| small prostate gland | reduced size of the gland in males that secretes part of the seminiferous fluid |
| increased circulating estradiol level | greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals |
| abnormal vagina development | abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva |
| decreased epididymis weight | reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| abnormal epididymis epithelium morphology | any structural anomaly of the layer of secretory cells which lines the epididymis |
| thin endometrium | reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| decreased endometrial gland number | fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus |
| abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that control differentiation of the male reproductive tract and spermatogenesis; ALCs are not derived from fetal Leydig cells (FLCs), and the origin and the molecular events that control ALC differentiation are poorly understood |
| decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| ambiguous external female genitalia | ambiguous external genitalia in an organism with XX genetic sex |
| abnormal circulating phospholipid level | any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group |
| abnormal sperm flagellum morphology | any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece |
| kinked sperm flagellum | a sharp bend or zigzag in the sperm tail |
| coiled sperm flagellum | abnormal twisting of the sperm flagellum into coils or spirals |
| hairpin sperm flagellum | a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked |
| reduced cerebellar foliation | the cerebellar lobules are reduced in size or number |
| abnormal sperm midpiece morphology | any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece |
| abnormal sperm mitochondrial sheath morphology | any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum |
| decreased epididymal fat pad weight | less than average weight of the encapsulated adipose tissue associated with the epididymis |
| abnormal immune serum protein physiology | abnormal concentration or function of circulating immune proteins |
| absent spleen marginal zone | absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens |
| absent peripheral lymph nodes | absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes |
| decreased IgA level | less than normal immunoglobulin class A level |
| increased B cell proliferation | greater than normal expansion rate of the B cell population by cell division in response to stimuli |
| absent extraembryonic ectoderm | absence of the endoderm layer of the extraembryonic tissue |
| absent uterus | absence of the female muscular organ of gestation |
| absent vas deferens | Aplasia (congenital absence) of the vas deferens. |
| absent seminal vesicle | absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| abnormal pallium development | anomaly in the progression of the formation of the roof region of the telencephalon |
| absent epididymis | absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens) |
| absent efferent ductules of testis | absence of the small seminal ducts that lead from the testis to the head of the epididymis |
| absent cranial vagina | absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts |
| Wolffian duct degeneration | a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male |
| absent internal male genitalia | absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands |
| absent internal female genitalia | absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina |
| gonadal ridge hypoplasia | underdevelopment or reduced size of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros, usually due to reduced cell number; normally, primordial germ cells become embedded in it, establishing it as the primordium of the testis or ovary |
| abnormal proximal-distal axis patterning | anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin |
| shortened circadian behavior period | decrease in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues |
| absent endoderm | absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation |
| absent ectoderm | absence of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation |
| axon degeneration | |
| hindlimb paresis | mild loss of strength in one or both of the hindlimbs |
| decreased width of hypertrophic chondrocyte zone | decreased width of cartilage cell matrix layer |
| short scapula | reduced length of either or both of the large, flat bones of the back part of the shoulder |
| decreased long bone epiphyseal plate size | reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles |
| decreased cranium width | having a decreased side-to-side, or lateral distance of the cranium |
| small intestinal inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the small intestine |
| rectal prolapse | |
| increased metastatic potential | greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it |
| abnormal T cell proliferation | anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli |
| abnormal talus morphology | any structural anomaly of the bone that articulates with the tibia and fibula |
| abnormal spermatogonia proliferation | anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis |
| increased circulating testosterone level | greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| fused metatarsal bones | improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| increased thoracic vertebrae number | increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae |
| increased diameter of fibula | |
| hindlimb oligodactyly | congenital condition in which some digits or parts of digits are missing from the autopods of the hindlimbs |
| duodenum polyps | |
| delayed chorioallantoic fusion | late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| abnormal grooming behavior | defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring) |
| glutaricadicuria | an accumulation of an intermediate of tryptophan catabolism in the urine |
| decreased digestive secretion | reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system |
| increased stomach mucosa thickness | greater than the normal depth or width of the of the mucous layer of the stomach wall |
| abnormal gastric parietal cell morphology | any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland |
| increased circulating gastrin level | greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters |
| abnormal stomach pH | anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion |
| abnormal stomach mucosa morphology | any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae |
| increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| round head | overall shape of the head is more circular than usual as viewed from the front |
| abnormal neutrophil differentiation | atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes |
| abnormal myeloblast morphology/development | any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells |
| decreased monocyte cell number | |
| abnormal monocyte morphology | any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood |
| abnormal liver bud morphology | any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme |
| abnormal cellular respiration | anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) |
| decreased circulating total protein level | |
| abnormal nucleotide metabolism | any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes |
| increased hepatocyte karyomegaly | an increase in the number or proportion of liver cells with enlarged nuclei |
| intrahepatic cholestasis | Xref MGI. |
| abnormal ventral interneuron 0 morphology | any structural anomaly of the ventral interneurons that are primarily contralateral, receive inputs from ipsilateral projecting V2a interneurons, and are characterized by expression of Evx1, Dbx1, Dbx2, Pax6 and Irx3 |
| abnormal olfactory sensory neuron morphology | any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants |
| fusion of glossopharyngeal and vagus nerve | union of the ninth and tenth cranial nerves into a single structure |
| absent rhombomere 3 | absence of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| absent rhombomere 5 | absence of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal abducens nerve morphology | any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye |
| decreased diameter of long bones | |
| decreased diameter of femur | reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| decreased diameter of radius | reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge |
| decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| decreased rhombomere 3 size | reduced size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| decreased rhombomere 5 size | reduced size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| decreased rhombomere 6 size | reduced size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal cardiogenic mesoderm morphology | any structural anomaly of the splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium |
| abnormal aorta elastic fiber morphology | any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity |
| calcified aortic valve | |
| abnormal aorta smooth muscle morphology | any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta |
| abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| pulmonary arteriovenous malformation | |
| abnormal bronchial cartilage morphology | any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles |
| absent ectoplacental cavity | absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity |
| absent extraembryonic coelom | absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity |
| abnormal meiotic spindle morphology | an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis |
| abnormal polar body morphology | any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm |
| absent vestibular hair cells | absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve |
| impaired cued conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| impaired conditioned place preference behavior | decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment |
| abnormal circadian behavior period | any change in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues |
| abnormal orientation of cochlear hair cell stereociliary bundles | misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium |
| abnormal outer hair cell stereociliary bundle morphology | any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia |
| abnormal inner hair cell stereociliary bundle morphology | any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia |
| abnormal vestibular hair cell kinocilium morphology | any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells |
| decreased a-wave amplitude | reduction in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram |
| aortic hypertrophy | increase in the bulk size of the aorta |
| abnormal heart apex morphology | any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction |
| shiny fur | fur with a glossy or glistening appearance |
| absent tail | completely lacking the appendage at the caudal end of the vertebral column |
| fused kidneys | a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage |
| neurogenic bladder | |
| increased spinal cord size | larger appearance of the spinal cord |
| CNS inflammation | |
| abnormal intestinal peristalsis | altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward |
| abnormal brain white matter morphology | any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites |
| abnormal habituation | anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus |
| enhanced autophagy | enhancement of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery |
| decreased systemic arterial systolic blood pressure | abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries |
| dilated aorta | the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid |
| iris coloboma | A coloboma of the iris. |
| kidney microaneurysm | focal dilation of arteriocapillary junctions in the kidney |
| absent mesangial cell | absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft |
| decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| abnormal hyaloid artery morphology | any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet's canal |
| blood vessel inflammation | local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel |
| abnormal osteoblast physiology | any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell |
| decreased susceptibility to atherosclerosis | less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries |
| impaired muscle relaxation | |
| increased cholesterol efflux | greater level of removal of excess cholesterol from cells by an active transport pathway |
| increased cardiac output | greater than normal blood volume pumped by each ventricle per minute |
| abnormal basilar membrane morphology | any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti |
| abnormal spiral modiolar artery morphology | any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents |
| spiral modiolar artery stenosis | abnormal narrowing of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents |
| increased susceptibility to systemic lupus erythematosus | greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs |
| decreased systemic vascular resistance | reduction in the normal force opposing blood flow in the peripheral blood vessels |
| abnormal CD4-positive, alpha-beta T cell number | anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| decreased follicular B cell number | reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes |
| decreased marginal zone B cell number | reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| impaired olfaction | |
| abnormal aorta wall morphology | any structural anomaly of the part of the aorta that encloses the luminal space |
| increased bone trabecula number | increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force |
| increased bone volume | increased amount of space occupied by bone tissue in the skeleton |
| increased trabecular bone volume | increase in the amount of space occupied by trabecular bone tissue in the skeleton |
| increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| abnormal lung hysteresivity | anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue |
| abnormal kidney arterial blood vessel morphology | any structural anomaly of the network of tubes that supply blood to the renal tissues |
| abnormal glomerular capillary thrombosis | any anomaly in the formation or presence of one or more thrombi within the renal glomerular capillaries |
| renal glomerulus lipidosis | presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts |
| increased cardiac stroke volume | increase in the volume of blood pushed into the aorta with each beat of the heart |
| decreased circulating homocysteine level | reduced amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 |
| impaired blood-brain barrier function | reduced ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood |
| increased bone mineral density of vertebrae | elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column |
| abnormal mammillary body morphology | any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei |
| abnormal respiratory system development | aberrant differentiation of pulmonary tissues |
| absent lens vesicle | absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye |
| absent otoliths | absence of the crystalline calciferous particles adhering to the otolithic membrane |
| dilated endolymphatic duct | stretched or widened aperture of the luminal space of the endolymphatic duct |
| dilated endolymphatic sac | stretched or widened aperture of the luminal space of the endolymphatic sac |
| distended Reissner membrane | an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane |
| enlarged vestibular saccule | enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear |
| dilated cochlea | the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid |
| fused inner hair cell stereocilia | coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia |
| dilated scala media | stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani |
| abnormal guard hair morphology | any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla |
| abnormal sinoatrial node morphology | any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart |
| delayed skeletal muscle regeneration | late onset of the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease |
| kidney inflammation | |
| abnormal T cell subpopulation ratio | deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples |
| renal fibrosis | |
| increased anti-erythrocyte antigen antibody level | elevated level of antibodies to erythrocyte antigen present in the sera |
| increased anti-chromatin antibody level | increase in the level of antibodies that recognize chromatin |
| abnormal T cell selection | any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation |
| increased spleen germinal center number | greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| abnormal oligodendrocyte morphology | any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS |
| decreased glucagon secretion | reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes |
| abnormal neuron specification | defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons |
| abnormal serotonergic neuron morphology | any structural anomaly of the neurons that secrete serotonin |
| absent pancreatic beta cells | absence of the cells of the pancreas that secrete insulin |
| decreased PP cell number | reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas |
| abnormal lymph node cell ratio | deviation from the standard ratios of lymph node cell subpopulations compared to control samples |
| abnormal professional antigen presenting cell physiology | any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response |
| polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| increased hemoglobin content | increase in the total hemoglobin content in the circulating blood |
| increased total body fat amount | greater than the normal total amount of connective tissue composed of fat cells within the entire body |
| retina spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| abnormal hair cuticle | anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft |
| increased incidence of tumors by UV-induction | higher than normal frequency of tumor incidence induced by exposure to ultraviolet light |
| increased skin tumor incidence | greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal sebaceous gland morphology | any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts |
| abnormal ovulation | aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone |
| increased incidence of induced tumors | higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus |
| enlarged hair follicles | increased size of the epidermal invaginations from which the hair shaft develops |
| abnormal fat cell morphology | any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals |
| abnormal ventral interneuron morphology | any structural anomaly spinal cord interneurons that arise from the ventral pool of progenitor cells, are mostly found in the ventral cord and are grossly associated with motor function |
| decreased prolactin level | less than expected concentration of the hormone that stimulates milk secretion |
| teratozoospermia | presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends |
| abnormal surfactant composition | anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli |
| abnormal alveolar macrophage morphology | any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells |
| adenohypophysis hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, of the anterior lobe of the pituitary gland |
| absent sperm flagellum | absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility |
| lipidosis | abnormal fat metabolism with increased accumulation of specific lipids in tissue |
| anovulation | |
| abnormal sperm head morphology | any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg |
| absent sperm head | absence of the head segment of the sperm cell |
| decreased abdominal fat pad weight | less than average weight of the encapsulated adipose tissue in the abdomen |
| endometrium atrophy | acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal tertiary ovarian follicle morphology | any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| decreased brain cholesterol level | less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| abnormal alveolar lamellar body morphology | any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| pulmonary alveolar proteinosis | A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. |
| decreased tertiary ovarian follicle number | fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| abnormal Golgi apparatus morphology | any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations |
| impaired binding of sperm to zona pellucida | reduced ability or inability to execute the process in which the sperm binds to the zona pellucida glycoprotein layer of the egg; the process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place |
| decreased secondary ovarian follicle number | fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| abnormal female reproductive system physiology | |
| small pancreatic islets | decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| delayed estrus | increase in the time between the estrus phases of the estrous cycle in females |
| increased pancreatic beta cell number | greater than normal number of the cells of the pancreas that secrete insulin |
| enlarged interparietal bone | increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| abnormal tumor incidence | deviation from the expected number of abnormal growths in a specific population |
| increased papilloma incidence | greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period |
| abnormal forestomach morphology | any structural anomaly of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus); the forestomach accounts for about 60% (rat) and 70% (mouse) of the stomach volume and receives the esophagus at the cardiac antrum; the wall of the forestomach consists of, from inside to outside, stratified squamous epithelium, the lamina propria (epithelium and lamina propria form the mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa |
| absent skin pigmentation | Lack of skin pigmentation (coloring). |
| myelencephalic blebs | presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood |
| head spot | the appearance of a round area of white fur on the head |
| decreased ear pigmentation | visually detectable dilution of pigment present in the outer ear |
| decreased foot pigmentation | visually detectable dilution of pigment present on the foot surface |
| abnormal vascular wound healing | anomaly in the repair process of damaged blood vessels after injury |
| abnormal seizure response to pharmacological agent | anomaly in the seizure activity response that is brought about by treatment with pharmacological agents |
| amacrine cell degeneration | a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer |
| increased cellular sensitivity to hydrogen peroxide | greater incidence of cell death following exposure to hydrogen peroxide |
| thin retina inner plexiform layer | reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites |
| thin retina outer plexiform layer | reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) |
| increased catalase activity | greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O |
| increased superoxide dismutase level | |
| abnormal energy homeostasis | any anomaly in the process involved in the balance between food intake (energy input) and energy expenditure |
| abnormal white adipose tissue morphology | any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels |
| increased bone mass | an increase in the total amount of bone tissue contained in the skeleton |
| increased susceptibility to diet-induced obesity | more likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| abnormal gas homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood |
| increased bone strength | increased ability of bone to endure the application of force without yielding or breaking |
| increased energy expenditure | increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten |
| increased adiponectin level | greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue |
| decreased total fat pad weight | less than average weight of the fat pads |
| increased carbon dioxide production | increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas |
| decreased bone trabecula number | decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force |
| decreased trabecular bone volume | decrease in the amount of space occupied by trabecular bone tissue in the skeleton |
| increased noradrenaline level | greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| increased urine adrenaline level | an increased amount of adrenaline in the urine compared to the normal state |
| increased circulating osteocalcin level | |
| ventricle myocardium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular part of the heart myocardium |
| variegated coat color | an irregular and random patchwork of two or more colors in the coat |
| peptic ulcer | An ulcer of the gastrointestinal tract. |
| increased esophageal papilloma incidence | higher than normal incidence of a benign epithelial tumor consisting of villous or arborescent outgrowths of fibrovascular stroma of the esophagus |
| increased percent body fat/body weight | more fat, relative to controls, expressed as a percentage of total body weight |
| abnormal axonal transport | any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons |
| abnormal synaptic vesicle number | anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents |
| abnormal lumbar vertebrae morphology | any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| short lumbar vertebrae | reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| abnormal spinal cord white matter morphology | any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites |
| abnormal cingulum morphology | any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain |
| small hippocampus | reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation |
| abnormal neurite morphology | any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture |
| abnormal gubernaculum morphology | any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus |
| abnormal inguinal canal morphology | any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively |
| bilateral cryptorchism | failure of both testes to descend into the scrotum |
| paresis | partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply |
| blindness | |
| abnormal retina rod cell inner segment morphology | any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| abnormal retina rod cell outer segment morphology | any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin |
| detached sperm flagellum | fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head |
| abnormal sperm nucleus morphology | any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin |
| abnormal manchette morphology | any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis |
| ectopic manchette | abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid |
| abnormal tail movements | a change from the normal manner of moving the tail |
| reduced linear vestibular evoked potential | reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) |
| decreased hippocampus pyramidal cell number | decreased number of the multipolar projection neurons in the hippocampus pyramidal cell layer |
| ectopic hippocampus pyramidal cells | the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus |
| abnormal inguinal lymph node morphology | any structural anomaly of the lymph nodes located in the groin area |
| abnormal induced morbidity/mortality | differences from the expected diseased state or death caused by an external intervention |
| abnormal mast cell physiology | any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules |
| decreased susceptibility to injury | less than the normal reaction to trauma, especially that by physical means |
| increased circulating alanine transaminase level | increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction |
| decreased circulating alanine transaminase level | decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction |
| decreased spleen germinal center number | reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| decreased spleen germinal center size | reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| enhanced central nervous system regeneration | increase in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease |
| liver failure | |
| increased heart right ventricle weight | greater than average weight of the right ventricle compared to the average |
| increased susceptibility to parasitic infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites |
| cerebral edema | |
| poor grooming | below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring) |
| microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| decreased circulating iron level | less than the normal concentration of iron in the blood |
| increased renal tubule apoptosis | increase in the number of renal tubule cells undergoing programmed cell death |
| proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
| increased circulating ferritin level | elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases |
| abnormal memory B cell number | anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin |
| decreased DNA replication | any anomaly in the chemical reactions and pathways resulting a decrease in new strands of DNA being synthesized |
| decreased glucokinase activity | reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate |
| brain vacuoles | the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states |
| ectopic cerebellar granule cells | granule cell body resides in a place other than the external or internal granule layer of the cerebellum |
| abnormal corticospinal tract morphology | any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract |
| abnormal pyramidal decussation morphology | any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata |
| increased saturated fatty acids level | elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms |
| increased circulating carnitine level | greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane |
| pancytopenia | |
| hyperalgesia | increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) |
| abnormal optic nerve innervation | misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain |
| abnormal retina pigmentation | anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors |
| accumulation of giant lysosomes in kidney/renal tubule cells | buildup of contents in lysosomes in cells of the kidney tubules |
| abnormal compact bone morphology | any structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae |
| abnormal vertebral pedicle morphology | Abnormal morphology of a vertebral pedical. |
| increased trabecular bone connectivity density | increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures |
| thickened long bone epiphysis | wider than normal rounded end of a long bone |
| abnormal caudal vertebrae morphology | any structural anomaly of the bony segments of the coccyx or tail |
| abnormal vertebral epiphyseal plate morphology | any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development |
| club-shaped femur | an abnormal conformation of the femur that becomes gradually enlarged at one end |
| increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| delayed fertilization | a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei |
| abnormal muscle development | any anomaly in the differentiation of muscle tissue |
| decreased glycogen level | less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle |
| decreased skeletal muscle fiber diameter | decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge |
| decreased skeletal muscle glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle |
| abnormal sarcomere morphology | any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle |
| myocardial fiber disarray | loss of the normal parallel alignment of cardiac myocytes, whereby adjacent myocytes are arranged obliquely or perpendicularly to each other around foci of interstitial collagen (plexiform fibrosis) in a pinwheel or herringbone pattern; disarray is characterized by regions of architectural disorganization of hypertrophied myocytes and distinct nuclear changes |
| increased mesothelioma incidence | greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells |
| increased osteoma incidence | greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period |
| increased neurofibroma incidence | greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers |
| osseous metaplasia | the formation of mature bone elements in the stroma of a neoplasm |
| increased exploration in new environment | greater amount of time spent investigating new location |
| increased vertical activity | greater than average time spent jumping or rearing |
| decreased circulating adrenaline level | less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| decreased adrenaline level | less than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| increased circulating ketone body level | greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus |
| impaired adaptive thermogenesis | inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death |
| prolonged diestrus | increase in the length of the diestrous phase of the estrous cycle in female animals |
| delayed circadian behavior phase | decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) |
| abnormal ethanol metabolism | altered ability to metabolize the clear, colorless liquid that has formula C2H6O |
| abnormal retinol metabolism | altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation |
| abnormal vitamin A level | any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet |
| abnormal direction of embryo turning | axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects |
| absent umbilical cord | absence of or failure to form the connective stalk between the fetus and the placenta |
| increased unsaturated fatty acids level | elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms |
| abnormal bile composition | any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris |
| abnormal adaptive thermogenesis | anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death |
| dicarboxylic aciduria | An increased concentration of dicarboxylic acid in the urine. |
| abnormal B-1 B cell morphology | any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas |
| decreased B-1a cell number | reduced number of the B-1 B cell subset bearing the CD5 surface marker |
| abnormal reticulocyte morphology | any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus |
| spherocytosis | The presence of erythrocytes that are sphere-shaped. |
| erythroblastosis | presence of erythroblasts in great number in the blood |
| hypochromic microcytic anemia | A microcytic anemia characterized by paler than normal blood cells. |
| schistocytosis | The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. |
| increased erythrocyte osmotic fragility | increased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in hereditary spherocytosis, some forms of hemolytic anemia, and hypernatremia |
| impaired macrophage phagocytosis | reduced ability of macrophage phagocytic cells to internalize particulate matter |
| decreased susceptibility to type I hypersensitivity reaction | less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks |
| decreased myocardial infarct size | decreased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors |
| decreased platelet calcium level | decreased concentration in the platelet of calcium |
| abnormal T-helper 1 cell morphology | any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity |
| abnormal superior colliculus morphology | any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing |
| abnormal lateral geniculate nucleus morphology | any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe |
| abnormal amacrine cell morphology | any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer |
| abnormal ocular fundus morphology | any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope |
| belted | the appearance of a stripe of white fur around the circumference of the abdomen |
| increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks |
| abnormal hypersensitivity reaction | immune response that results in tissue injury |
| abnormal seizure response to electrical stimulation | anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation |
| maximal tonic hindlimb extension seizures | seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees) |
| enlarged floor plate | increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube |
| decreased airway responsiveness | less easily provoked into bronchoconstriction during bronchial provocation testing |
| increased circulating interleukin-1 beta level | increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| nephrolithiasis | Formation of stones in the KIDNEY. |
| decreased creatinine clearance | |
| crystalluria | excretion of crystalline material in the urine |
| decreased urine uric acid level | abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine |
| abnormal urine nucleoside level | any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides |
| cystolithiasis | caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection |
| increased fluid intake | increase in the total amount of fluid taken in over time when compared to the normal state |
| kidney collecting duct atrophy | acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| aminoaciduria | An increased concentration of an amino acid in the urine. |
| kidney medulla atrophy | acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| acanthocytosis | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. |
| increased number of Heinz bodies | presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells |
| stria vascularis degeneration | degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph |
| abnormal cochlear OHC efferent innervation pattern | any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs |
| vestibular ganglion hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cell bodies, in the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus |
| gallstones | Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin. |
| decreased IgD level | less than normal immunoglobulin class D level |
| absent B-1a cells | absence of the B-1 B cell subset bearing the CD5 surface marker |
| absent lymph node germinal center | absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells |
| abnormal immune tolerance | anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it |
| abnormal club cell morphology | any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function |
| abnormal body temperature homeostasis | any anomaly in the process in which an organism modulates or maintains its internal body temperature |
| decreased thyrotroph cell number | reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone |
| absent primary muscle spindle | missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity |
| partial loss of secondary muscle spindle | missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity |
| anisopoikilocytosis | A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. |
| increased circulating aspartate transaminase level | greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction |
| increased mean corpuscular hemoglobin | greater than the average levels of hemoglobin contained in an erythrocyte |
| increased liver iron level | increase in the amount of iron present in the liver tissue |
| decreased cellular hemoglobin content | decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume |
| increased kidney iron level | increase in the amount of iron present in the renal tissue |
| increased mean corpuscular hemoglobin concentration | greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices |
| increased spleen iron level | increase in the amount of iron present in the spleen tissue |
| decreased circulating thyroid-stimulating hormone level | reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland |
| decreased circulating thyroxine level | reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism |
| abnormal epididymal fat pad morphology | any structural anomaly of the encapsulated adipose tissue associated with the epididymis |
| increased basal metabolism | increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| decreased oviduct weight | reduction in the average weight of the tube through which the ova pass from the ovary to the uterus |
| lactation failure | mammary glands do not secrete milk after parturition |
| autoimmune response | condition in which cells and/or antibodies arise from and are directed against one's own tissues |
| increased vascular endothelial cell number | greater than normal number of cells lining the vasculature |
| decreased mesangial cell number | decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft |
| liver hyperplasia | overdevelopment or increased size of the liver, usually due an increased number of cells |
| increased proline level | higher than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate |
| increased circulating proline level | increase in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins |
| decreased glutamic acid level | reduction in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter |
| decreased aspartic acid level | reduction in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate |
| abnormal head movements | |
| abnormal paranode morphology | any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode |
| abnormal grip strength | altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| decreased endocochlear potential | reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea |
| absent strial basal cell tight junctions | absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation |
| abnormal visual evoked potential | |
| prostate gland hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the prostate |
| increased circulating prolactin level | greater than expected blood concentration of the hormone that stimulates milk secretion |
| increased cardiac muscle contractility | greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume |
| abnormal labium morphology | any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening |
| enlarged clitoris | increased size of the small, erectile body located at the anterior end of the vulva |
| increased circulating dihydrotestosterone level | greater than normal blood concentration of this potent androgenic metabolite of testosterone |
| decreased systemic arterial diastolic blood pressure | abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed |
| decreased heart rate variability | reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle |
| abnormal baroreceptor physiology | any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure |
| decreased mean systemic arterial blood pressure | decrease in the average arterial pressure during a single cardiac cycle |
| increased seminal vesicle weight | increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| increased prostate gland weight | greater than average weight of the gland in males that secretes part of the seminiferous fluid |
| arrest of spermiogenesis | block in the process by which a spermatid transforms into a functional spermatozoon |
| increased gonadal fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes |
| increased mammary fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the mammary gland |
| ovarian follicular cyst | a sac filled with fluid that may develop when the structure containing the egg fails to break open at the time of ovulation |
| enlarged salivary gland | increased size of the saliva-secreting glands of the oral cavity |
| increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| abnormal acrosome assembly | any anomaly in the formation of the acrosome from the spermatid Golgi |
| increased prostate gland anterior lobe weight | increase in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles |
| increased prostate gland ventral lobe weight | increase in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck |
| prostate gland ventral lobe hyperplasia | increase in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in increased size |
| increased prostate gland dorsolateral lobe weight | increase in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle |
| abnormal hematopoietic system physiology | any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins |
| abnormal common lymphocyte progenitor cell morphology | any structural anomaly of a progenitor cell committed to the lymphoid lineage |
| increased cellular sensitivity to methylmethanesulfonate | greater incidence of cell death following exposure to methylmethanesulfonate |
| impaired sperm penetration of zona pellucida | reduced ability or inability of sperm to infiltrate the zona pellucida in order to reach the oocyte; the process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm |
| induced chromosome breakage | chromosome breakage following treatment with a DNA-damaging agent |
| spontaneous chromosome breakage | chromosome breakage due to inherent instability of chromosomes |
| abnormal type III hypersensitivity reaction | anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury |
| abnormal thymus medulla morphology | any structural anomaly of the inner area of thymus lobules |
| abnormal circulating protein level | anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage |
| joint swelling | |
| increased circulating serum albumin level | |
| increased circulating total protein level | |
| thyroid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the thyroid gland |
| abnormal coronary artery morphology | any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart |
| abnormal thyroid follicle morphology | any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones |
| abnormal marginal zone B cell morphology | any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| abnormal B cell receptor editing | any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor |
| submandibular gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible |
| thymus cortex atrophy | acquired diminution of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| renal glomerular protein deposits | any anomalous accumulation of protein in the renal glomerulus |
| lymph node hemorrhage | bleeding into one or more lymph nodes |
| lymph node necrosis | morphological changes resulting from pathological death of some or all lymph node tissue; usually due to irreversible damage |
| forelimb paralysis | loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply |
| abnormal skin tensile strength | change from the normal maximum tension the skin can withstand without tearing |
| decreased cornea thickness | |
| abnormal cornea posterior stroma morphology | any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea |
| decreased corneal stroma thickness | reduced width of the lamellated connective tissue layer of the cornea |
| abnormal cutaneous collagen fibril morphology | any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity |
| male pseudohermaphroditism | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. |
| increased ovary weight | greater average weight of the female reproductive gland containing the germ cells |
| absent bone marrow cell | lack of cells that make up the core cavities of bones |
| increased late pro-B cell number | greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain |
| increased corpora lutea number | greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle |
| abnormal endometrium morphology | any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| uterus cyst | presence of one or more fluid-filled sacs inside the lumen of the uterus; usually refers to benign growths |
| abnormal uterus physiology | any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth |
| increased prostaglandin level | increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation |
| abnormal lymphocyte cell number | deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells |
| chronic diarrhea | The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. |
| increased length of allograft survival | compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive |
| abnormal gamma-delta intraepithelial T cell morphology | any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| abnormal CD8 positive, alpha-beta intraepithelial T cell morphology | any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| abnormal susceptibility to Riboviria infection | any anomaly in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid |
| decreased urine potassium level | less than the normal amount of potassium in the urine |
| abnormal adrenal medulla morphology | any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine |
| absent kidney papilla | absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx |
| decreased urine chloride ion level | abnormally low amounts of chloride ion in the urine |
| abnormal ureteropelvic junction morphology | any structural anomaly of the junction between the ureter and the renal pelvis of the kidney |
| ureteropelvic junction obstruction | Blockage of urine flow from the renal pelvis to the proximal ureter. |
| increased susceptibility to ischemic brain injury | increased frequency or more severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls |
| increased cerebral infarct size | increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply |
| abnormal descending thoracic aorta morphology | any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest |
| double inlet heart left ventricle | |
| triangular face | Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. |
| suppressed circulating follicle stimulating hormone level | repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| impaired skeletal muscle contractility | inability or reduced ability of the skeletal muscle to shorten or to develop increased tension |
| decreased skeletal muscle fiber number | decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles |
| abnormal skeletal muscle fiber type ratio | deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples |
| skeletal muscle fiber atrophy | acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation |
| decreased fluid intake | reduction in the total amount of fluid taken in over time when compared to the normal state |
| absent zona pellucida | missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation |
| absent cumulus expansion | complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization |
| hypotension | Blood pressure that is abnormally low. |
| decreased fertilization frequency | the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected |
| granulomatous inflammation | chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells |
| epididymis epithelium degeneration | pathological deterioration of the layer of secretory cells which lines the epididymis |
| decreased intestinal cholesterol absorption | reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine |
| decreased circulating cholesterol level | |
| uterus inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the uterus |
| increased intestinal cholesterol absorption | augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine |
| early sexual maturation | |
| abnormal tertiary ovarian follicle number | abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| decreased granulosa cell proliferation | reduction in the expansion rate of a granulosa cell population by cell division |
| premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| abnormal enamel morphology | any structural anomaly of the hard outer coating of the exposed portion of the tooth |
| abnormal ameloblast morphology | any structural anomaly of the epithelial cells of the inner layer of the enamel organ of the developing tooth |
| delaminated enamel | separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue |
| folliculitis | |
| spontaneous skin ulceration | unpredictable appearance of skin lesions, usually with inflammation |
| vascular smooth muscle hypertrophy | increase in size or thickness of the smooth muscle of the vascular wall |
| bile duct inflammation | |
| abnormal stomach pyloric region morphology | any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum |
| reduced sensorimotor gating | attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) |
| increased bone mineral density of femur | elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| increased bone mineral density of caudal vertebrae | elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail |
| globozoospermia | Any structural anomaly of the acrosome resulting in a round sperm head. |
| abnormal spermiation | anomaly in the process by which mature spermatozoa release from supporting Sertoli cells into the lumen of seminiferous tubules |
| abnormal acrosome morphology | any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration |
| multiflagellated sperm | presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head |
| multi-headed sperm | presence of more than one heads per sperm cell |
| decreased mitotic index | decreased number of cells in G2/M phase |
| abnormal L5 dorsal root ganglion morphology | any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra |
| delayed brain development | the delay or slower progress of the growth and differentiation of the brain |
| dilated third ventricle | An increase in size of the third ventricle. |
| abnormal chiasmata formation | atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events |
| abnormal synaptonemal complex | an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis |
| abnormal telomere morphology | any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration |
| abnormal gallbladder physiology | A functional anomaly of the gallbladder. |
| decreased susceptibility to diet-induced hepatic steatosis | less likely than normal to develop diet-induced hepatic steatosis |
| increased circulating homocysteine level | greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 |
| increased circulating methionine level | increase in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins |
| abnormal ependyma morphology | any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord |
| abnormal Z line morphology | any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere |
| abnormal basement membrane morphology | anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis |
| absent diaphragm | absence of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control |
| abnormal circadian behavior persistence | anomaly in the ability for an animal to retain a circadian behavior when time cues are removed |
| abnormal circadian behavior phase | anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) |
| abnormal physical strength | altered ability of an organism to exert force on physical objects or of the body to support its load |
| skeletal muscle atrophy | A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. |
| decreased gastrocnemius weight | reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles |
| abnormal channel response | anomalies in the electrophysiological recordings from ion channels |
| abnormal sperm axoneme morphology | any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion |
| absent sperm axonemal central pair | missing the central pair of microtubules in the sperm axoneme, thereby forming a 9 + 0 pattern instead of the normal 9 + 2 pattern |
| decreased chemical nociceptive threshold | a lower than average concentration at which chemically induced pain sensation is first detectable |
| abnormal articular cartilage morphology | any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone |
| increased urine glycosaminoglycan level | |
| short face | |
| abnormal retroperitoneal fat pad morphology | any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum |
| increased club cell number | increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium |
| abnormal interscapular fat pad morphology | any structural anomaly of the encapsulated adipose tissue located between the scapulae |
| abnormal small intestinal villus morphology | any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold |
| abnormal Kupffer cell morphology | any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids |
| abnormal liver sinusoid morphology | any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes |
| increased brown fat cell lipid droplet size | increase in the size of the multiple small droplets of triglycerides found in brown adipocytes |
| abnormal white fat cell size | anomaly in the size of fat cells with light coloration and few mitochondria |
| delayed allantois development | late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels |
| abnormal primordial germ cell morphology | any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge |
| testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| abnormal B cell apoptosis | change in the timing or the number of B cells undergoing programmed cell death |
| increased primordial ovarian follicle number | greater than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles |
| delayed female fertility | ability of a female organism to produce live offspring occurring at a later than expected age |
| abnormal synaptic depression | changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation |
| abnormal sperm motility | An anomaly of the mobility of ejaculated sperm. |
| detached acrosome | detachment or loss of adhesion of the acrosome cap from the sperm head nucleus |
| osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| premature bone ossification | early onset of the formation of bone |
| osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| abnormal thoracic cage shape | anomaly in the overall regular dome shape of the ribcage |
| prognathia | abnormal protrusion of the mandible relative to the facial skeleton and soft tissues |
| abnormal foramen magnum morphology | any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata |
| occipital bossing | an area of marked prominence or protrusion in the occipital region at the back of the skull |
| short basicranium | decreased length of the anterior and/or posterior portions of the skull base |
| abnormal nervous system tract morphology | any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord |
| abnormal glutaminergic neuron morphology | any structural anomaly of the neurons that utilize glutamate as a neurotransmitter |
| abnormal brain internal capsule morphology | any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord |
| abnormal cortical ventricular zone morphology | any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons |
| enlarged third ventricle | increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina |
| abnormal central medial nucleus morphology | any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei |
| abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigger differentiation of steroidogenic factor 1-positive (SF1-positive) progenitor cells into FLCs via paracrine regulation; the intercellular Notch signaling pathway is also involved in FLC establishment and maintenance; the FLC population increases dramatically during embryonic development despite the fact that differentiating FLCs are mitotically inactive, suggesting that expansion of FLC populations results from differentiation of progenitor cells, rather than cell division of existing FLCs; the SF1-positive cells in gonadal primordia are the primary source of FLCs but other sources such as neighboring mesonephros, migrating neural crest cells, and cells from the coelomic epithelium or interstitium are potential contributors also; at the end of fetal life and during the first 2 postnatal weeks in rodents, FLCs are gradually replaced by adult Leydig cells (ALCs) |
| decreased lymphoma incidence | less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| abnormal NMDA-mediated synaptic currents | change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors |
| cervical aortic arch | The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. |
| short trachea | reduced length of the tube descending from the larynx and branching into the right and left main bronchi |
| decreased tracheal cartilage ring number | less than the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea |
| abnormal aortic arch and aortic arch branch attachment | any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery |
| abnormal left subclavian artery morphology | any structural anomaly of the artery that extends from the aortic arch to the left side of the body |
| abnormal common carotid artery morphology | any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery |
| absent parathyroid glands | missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) |
| abnormal laryngeal cartilage morphology | any structural anomaly of the cartilaginous structures that support the larynx |
| abnormal thyroid cartilage morphology | any structural anomaly of the largest of the laryngeal cartilages |
| abnormal pharyngeal pouch morphology | any structural anomaly of the balloonlike diverticulae of the embryonic pharyngeal endoderm that line the inside of the branchial arches; these paired endodermal evaginations develop in a craniocaudal sequence between the branchial arches, e.g. pouch 1 lies between arches 1 and 2; in mammals, there are four well-developed pairs of pouches (the fifth and sixth pair is vestigial or absent); the pouch endoderm reaches the branchial groove ectoderm to form the double-layer branchial membranes that separate them |
| double aortic arch | A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). |
| increased mitotic index | increased number of cells in G2/M phase |
| maternal imprinting | the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself |
| caudal rachischisis | congenitial fissure of the vertebral column at the caudal end of the body |
| dilated oviduct | an expansion in the volume or area of the tube through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid |
| increased systemic vascular resistance | increase in the normal force opposing blood flow in the peripheral blood vessels |
| abnormal urine catecholamine level | any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine |
| abnormal dermal layer morphology | any structural anomaly or atypical condition of the dermal layer of the skin |
| reddish skin | |
| mixed cellular infiltration to dermis | gradual accumulation of mixed cell types in the dermis that are not normally found there |
| psoriasis | A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. |
| increased basophil cell number | higher than average number of basophils as measured by the percent of the total number of leukocytes |
| thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| parakeratosis | Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. |
| increased T-helper 1 cell number | greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity |
| abnormal avoidance learning behavior | anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| increased collagen deposition in the muscles | accumulation of collagen within the muscles |
| mitral valve regurgitation | |
| abnormal QRS complex | anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction |
| prolonged P wave | increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave |
| spiral ligament degeneration | degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches |
| abnormal heart left ventricle outflow tract morphology | any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta |
| abnormal heart electrocardiography waveform feature | |
| thick interventricular septum | increased thickness of the wall between the two lower chambers of the heart |
| abnormal circadian temperature homeostasis | any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours |
| abnormal spleen physiology | any functional anomaly of the organ that filters blood and stores red corpuscles and platelets |
| ischuria | |
| abnormal accessory olfactory bulb morphology | any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus |
| abnormal cerebellum deep nucleus morphology | any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei |
| abnormal hair follicle melanin granule morphology | any structural anomaly of the pigment particles in the hair follicles |
| hair follicle degeneration | a retrogressive impairment of function or destruction of the hair follicle |
| abnormal hair follicle matrix region morphology | any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath |
| decreased skin turgor | reduced ability of the skin to resist deformation; influential factors include dehydration and age |
| enhanced paired-pulse facilitation | increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus |
| allodynia | Pain due to a stimulus that does not normally provoke pain. |
| abnormal striatum morphology | any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking |
| abnormal neutrophil morphology | any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes |
| increased circulating interleukin-3 level | increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells |
| abnormal immunoglobulin transcytosis | any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types |
| abnormal pilomotor reflex | anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe |
| abnormal retina apoptosis | change in the timing or the number of cells in the retina undergoing programmed cell death |
| decreased retina apoptosis | decrease in the number of cells in the retina undergoing programmed cell death |
| abnormal sympathetic neuron innervation pattern | any changes in the placement, morphology or number of nerve fibers to sympathetic termini |
| superior cervical ganglion degeneration | retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck |
| abnormal sympathetic system morphology | any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations |
| increased circulating VLDL triglyceride level | higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue |
| abnormal cell chemotaxis | any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) |
| abnormal thymocyte apoptosis | change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death |
| abnormal placental thrombosis | any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the placenta |
| large intestinal inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the large intestine |
| abnormal zona pellucida morphology | any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation |
| impaired acrosome reaction | reduced ability or inability to execute the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte |
| heart vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the heart |
| increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| abnormal liver regeneration | deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy |
| abnormal milk composition | anomaly in the protein or lipid content or the appearance of milk |
| abnormal mammary gland growth during lactation | anomaly in the final stage of mammary growth that occurs during the start of lactation |
| abnormal sperm connecting piece morphology | any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum |
| abnormal sperm fibrous sheath morphology | any structural anomaly of the unique cytoskeletal component in the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs; the fibrous sheath is believed to regulate the degree of flexibility, flagellar motion and shape of the flagellar beat during the lifespan of a sperm cell |
| biflagellated sperm | presence of two flagella per sperm cell |
| increased cellular sensitivity to oxidative stress | greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis |
| abnormal megakaryocyte progenitor cell morphology | any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells |
| abnormal brain meninges morphology | any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) |
| decreased bleeding time | less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| abnormal thymus cortex morphology | any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| absent subplate | absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate |
| decreased T-helper 2 cell number | reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy |
| loss of hippocampal neurons | loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event |
| abnormal conjunctiva morphology | any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball |
| blepharitis | An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. |
| decreased forehead pigmentation | visually detectable dilution of pigment present in the forehead |
| absent thymus corticomedullary boundary | complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; normally, this is the site of entry of bone marrow stem cells and exit of mature, functional T cells |
| increased interleukin-6 secretion | increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| abnormal spleen size | deviation from the normal spleen size |
| abnormal MHC II cell surface expression on macrophages | anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface |
| prolonged metestrus | increase in the length of the metestrous phase of the estrous cycle in female animals |
| increased spongiotrophoblast size | greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors |
| decreased trophoblast glycogen cell number | reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta |
| decreased liver triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver |
| abnormal somatic nervous system physiology | any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) |
| decreased synaptic depression | decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation |
| clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle |
| decreased cochlear nerve compound action potential | reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve |
| abnormal inner hair cell synaptic ribbon morphology | any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse |
| absent active-zone-anchored inner hair cell synaptic ribbon | absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse |
| low mean erythrocyte cell number | less than average numbers of red blood cells |
| increased lung carcinoma incidence | |
| increased mast cell degranulation | increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell |
| hypoventilation | A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). |
| abnormal central pattern generator function | any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns |
| abnormal pre-Botzinger complex physiology | any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis |
| abnormal philtrum morphology | any structural anomaly of the vertical groove found on the median line of the upper lip |
| abnormal upper incisor morphology | any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw |
| small nasal septum | reduced size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils |
| absent nasal septum cartilage | absence of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities |
| nasal septum cartilage hypoplasia | decrease in the number of normal cells in normal arrangement in the nasal septum cartilage, typically resulting in decreased size |
| piriform aperture stenosis | abnormal narrowing of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway; an unusual cause of neonatal nasal obstruction that is due to bony overgrowth of the nasal lateral process of the maxilla |
| absent primary palate | missing the initial portion of the palate formed from the intermaxillary segment |
| abnormal fear-related response | altered emotional response related to anticipation of specific pain or danger |
| abnormal hippocampus CA1 region morphology | any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum |
| abnormal spatial working memory | anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location |
| abnormal long-term spatial reference memory | anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location |
| skin hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the skin; usually results in thick skin |
| abnormal hair shaft melanin granule shape | the form of pigment polymers in the hair shaft differs compared to controls |
| adipose tissue inflammation | local accumulation of fluid, plasma proteins, and leukocytes in adipose tissue |
| thin zona pellucida | reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation |
| increased susceptibility to Coronaviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus |
| abnormal blood urea nitrogen level | aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function |
| decreased naive B cell number | reduced number of mature B cells which have not yet been activated by antigen |
| abnormal roof plate morphology | any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline |
| abnormal spinal cord dorsal horn morphology | any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord |
| fused metacarpal bones | improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| fused tarsal bones | |
| increased body length | increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction |
| delayed estrous cycle | onset of the estrous cycle of females occurring at a later than expected day/age |
| abnormal double-positive T cell morphology | any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8 |
| hemoglobinuria | |
| hemosiderinuria | The presence of hemosiderin in the urine. |
| hemoglobinemia | the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis |
| echinocytosis | a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin |
| early reproductive senescence | loss of reproductive capacity occurring at an earlier than expected age |
| necrospermia | condition in which spermatozoa in seminal fluid are dead or motionless |
| abnormal vascular branching morphogenesis | increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels |
| vascular smooth muscle hypoplasia | decrease in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in decreased size |
| disorganized retina ganglion layer | derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain |
| disorganized retina inner nuclear layer | derangement of the normal pattern of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells |
| disorganized retina outer nuclear layer | derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones |
| absent photoreceptor outer segment | absence of the photoreceptor region that is rich in the visual pigment rhodopsin |
| abnormal axon fasciculation | anomaly in the process by which axons form into nerve fiber bundles |
| abnormal mitosis | anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) |
| abnormal DNA repair | any anomaly in the process of restoring DNA after damage or replication error |
| abnormal gustatory system physiology | any functional anomaly in the perception of taste |
| abnormal taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system |
| abnormal bitter taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system |
| abnormal sweet taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system |
| decreased susceptibility to infection | reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens |
| decreased susceptibility to viral infection | reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus |
| abnormal stomach glandular epithelium morphology | any structural anomaly of the gland-containing epithelial layer of the stomach |
| hypochlorhydria | reduced hydrochloric acid content of the gastric secretions |
| abnormal bone marrow development | anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones |
| abnormal myelopoiesis | anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue |
| increased spleen neoplasm incidence | greater than the expected number of a neoplasm of the spleen, occurring in a specific population in a given time period |
| abnormal jaw morphology | any structural anomaly of the bony framework of the mouth where the teeth are held |
| abnormal ectomesenchyme morphology | any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches |
| mandibular hyperostosis | Hyperostosis (bony overgrowth) of the mandible. |
| pectus excavatum | A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. |
| abnormal odontoid process morphology | any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates |
| stomach mucosa hyperplasia | overdevelopment or increased size, usually due to an increase in the number of cells, of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae |
| abnormal hematocrit | greater or less than the average percentage of a volume of a blood sample occupied by red blood cells |
| abnormal platelet shape | A deviation from the normal discoid platelet shape. |
| abnormal erythroid progenitor cell morphology | any structural anomaly of a progenitor cell committed to the erythroid lineage |
| increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia |
| ectrodactyly | A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. |
| abnormal zygomatic bone morphology | any structural anomaly of the quadrilateral bone that forms the prominence of the cheek |
| abnormal hyoid bone morphology | any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles |
| abnormal stylohyoid ligament morphology | any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone |
| abnormal mandibular prominence morphology | any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip |
| fused pharyngeal arches | failure of two or more pharyngeal arches to fully separate |
| small presphenoid bone | reduced size of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult |
| increased post-tetanic potentiation | increase in the size or duration of potentials that persist after tetanic stimulation of central synapses |
| abnormal paired-pulse inhibition | defects in the suppressive response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of inhibition of neurotransmitter release at the second stimulus |
| decreased CNS synapse formation | a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron |
| vestigial tail | a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure |
| absent caudal vertebrae | absence of all of the bony segments of the coccyx or tail |
| abnormal mesenchyme morphology | any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems |
| absent external male genitalia | absence of the external masculine genital organs, including the penis and scrotum |
| absent external female genitalia | absence of the external feminine genital organs, collectively known as the vulva |
| decreased tongue size | |
| absent CD8-positive, alpha-beta T cells | lack of the set of single-positive T cells that express CD8 on their surface |
| absent CD4-positive, alpha-beta T cells | lack of the set of single-positive T cells that express CD4 on their surface |
| increased partial thromboplastin time | |
| decreased susceptibility to induced thrombosis | decreased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent |
| abnormal epidermis suprabasal layer morphology | any structural anomaly of the suprabasal layer of the epidermis |
| absent epidermis stratum corneum | absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells |
| anal atresia | |
| esophageal atresia | |
| oral atresia | congenital blockage, fusion, or absence of the normal opening of the oral cavity |
| palatal shelf fusion with tongue or mandible | palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues |
| abnormal genital tubercle morphology | any structural anomaly of the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation |
| abnormal periderm morphology | any structural anomaly of the outermost layer of the bilaminar embryonic/fetal epidermis, the first non-basal layer formed at approximately E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at approximately E17, when it is replaced by corneocytes; desquamated peridermal cells are a considerable component of the vernix caseosa, a white, cheesy, protective substance that covers the fetal skin |
| abnormal actin cytoskeleton morphology | any anomaly in the structure of the part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins |
| abnormal vagina weight | anomaly in the weight of the female reproductive canal located between the uterus and the vulva |
| impaired wound healing | reduced ability or inability to self-repair and close wounds |
| abnormal tracheal ciliated epithelium morphology | any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells |
| decreased sperm progressive motility | decrease in the ability of sperm to move in a more or less straight line |
| increased circulating citrulline level | increase in the amount per unit of blood of citrulline |
| abnormal Bruch membrane morphology | any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina |
| delayed dark adaptation | increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights |
| abnormal bile secretion | any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time |
| abnormal circulating bilirubin level | any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| cholestasis | |
| abnormal circulating alanine transaminase level | aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction |
| abnormal circulating alkaline phosphatase level | any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia |
| abnormal circulating aspartate transaminase level | any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid |
| dilated bile duct | the luminal space of the bile ducts is increased in volume or area, usually with an increase in contained fluid or bile |
| bile duct proliferation | Proliferative changes of the bile ducts. |
| biliary cirrhosis | liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts |
| abnormal portal triad morphology | any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel |
| increased tertiary ovarian follicle number | greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| increased secondary ovarian follicle number | greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| abnormal ventral coat pigmentation | irregular or unusual pigmentation of ventrum hair in relation to control animals |
| abnormal whisker trimming behavior | anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort |
| abnormal barbering behavior | anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed |
| environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| abnormal cerebellar granule cell migration | any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum along radial glia fibers during development of the cerebellar cortex |
| novel environmental response-related retropulsion | when confronted with a novel stimulus, subjects exhibit involuntary backward walking |
| decreased aggression | when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action |
| decreased circulating interleukin-13 level | reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses |
| increased interleukin-10 secretion | increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation |
| chromosomal instability | abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity |
| absent chiasmata formation | during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other |
| abnormal meiotic configurations | uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes |
| abnormal mismatch repair | any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination |
| sepsis | Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection. |
| decreased tumor latency | earlier onset of tumor occurrence than expected |
| early cellular replicative senescence | increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division |
| abnormal associative learning | anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment |
| increased abdominal adipose tissue amount | increase in amount of adipose tissue associated with internal organs |
| decreased muscle cell glucose uptake | reduced ability of muscle cells to take in glucose |
| vesicoureteral reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| ureteral reflux | retrograde movement of urine from the bladder to the kidney |
| abnormal urothelium morphology | any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract |
| increased urine pH | increased urine alkalinity |
| abnormal urinary bladder physiology | any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| increased urination frequency | |
| abnormal ureteral orifice morphology | any structural anomaly of the slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux |
| abnormal eye blink conditioning behavior | anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli |
| abnormal acid-activated cation-mediated receptor currents | change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors |
| hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| increased tail pigmentation | visually detectable excess of pigment present on the tail surface |
| increased ear pigmentation | visually detectable excess of pigment present in the outer ear |
| abnormal distal visceral endoderm morphology | any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo |
| mesocardia | Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. |
| decreased oxygen consumption | less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body |
| increased circulating triiodothyronine level | greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| increased body temperature | greater than the level of heat natural to a living being |
| decreased respiratory quotient | reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls |
| skeletal muscle interstitial fibrosis | formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process |
| abnormal basal lamina morphology | any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue |
| skeletal muscle fiber necrosis | morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage |
| skeletal muscle necrosis | morphological changes resulting from pathological death of skeletal muscle tissue; usually due to irreversible damage |
| dilated sarcoplasmic reticulum | an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere |
| increased skeletal muscle mass | increase in the physical bulk, or total amount of matter contained within skeletal muscle |
| increased skeletal muscle fiber diameter | increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge |
| skeletal muscle endomysial fibrosis | replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers |
| anterior subcapsular cataract | |
| abnormal scalene muscle morphology | any structural anomaly of any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior; the scalenes are innervated by the cervical spinal nerves C4-C8, act as accessory muscles of respiration, and perform flexion at the neck |
| decreased blood urea nitrogen level | low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function |
| urolithiasis | presence of calculi in any part of the urinary system |
| increased urine calcium level | |
| abnormal renal calcium reabsorption | any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream |
| abnormal response to new environment | altered behavioral reaction associated with placing an animal in a new location |
| increased mortality induced by ionizing radiation | greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death |
| tubular nephritis | inflammation of the renal tubules |
| impaired contextual conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) |
| abnormal male preputial gland morphology | any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans |
| small male preputial gland | reduced size of the sebaceous glands of the corona and neck of the glans penis |
| increased total retina thickness | increased width of the retina through the center plane |
| abnormal optic placode morphology | any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles |
| absent ciliary body | absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris |
| dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| dilated heart left atrium | the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid |
| abnormal M line morphology | any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments |
| decreased urine glucose level | a reduced amount of glucose in the urine compared to the normal state |
| absent endocochlear potential | absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear |
| abnormal vestibular hair cell physiology | anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear |
| leukocyturia | presence of white blood cells in the urine |
| abnormal ureter smooth muscle morphology | any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter |
| abnormal blastocyst hatching | any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation |
| abnormal inner cell mass apoptosis | the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death |
| absent embryonic epiblast | absence of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion |
| abnormal blastocyst formation | atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation |
| decreased dopamine level | less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary |
| abnormal pituitary gland physiology | any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk |
| hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| pituitary intermediate lobe hypoplasia | underdevelopment or reduced size, usually due to a reduced cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| decreased dopaminergic neuron number | fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter |
| abnormal pregnancy | any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth |
| abnormal primary polar body morphology | any structural anomaly of the small cell formed by the first meiotic division of oocytes |
| increased susceptibility to Herpesvirales infection | increase in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus |
| increased susceptibility to Togaviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus |
| induced hyperactivity | increased physical activity following stimulation such as handling, touching or noise |
| increased susceptibility to Picornaviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus |
| increased susceptibility to Paramyxoviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus |
| increased susceptibility to Coronaviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family |
| increased susceptibility to Paramyxoviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family |
| liver abscess | The presence of an abscess of the liver. |
| abnormal vascular endothelial cell physiology | anomaly in the function of the cells that line the vasculature |
| abnormal maternal decidual layer morphology | any structural anomaly of the maternal uterine-derived portion of the placenta |
| increased circulating interferon-gamma level | increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| abnormal uterine NK cell physiology | any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy |
| arteritis | Arterial inflammation. |
| aortitis | |
| abnormal vision | inability or decreased ability to see |
| abnormal retinol level | any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation |
| increased stereotypic behavior | more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful |
| abnormal immature B cell morphology | any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity |
| increased total fat pad weight | greater than average weight of the fat pads |
| abnormal biliary tract morphology | A structural abnormality of the biliary tree. |
| pancreatic islet hyperplasia | overdevelopment or increased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an increased number of cells |
| abnormal kidney pelvis morphology | any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices |
| abnormal motile primary cilium physiology | any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization |
| abnormal pancreatic acinus morphology | any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct |
| decreased pancreatic acinar cell number | reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes |
| abnormal loop of Henle descending limb morphology | any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure |
| abnormal loop of Henle ascending limb thick segment morphology | any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule |
| increased glomerular capsule space | increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries |
| renal glomerulus cyst | presence of one or more abnormal membranous sacs in any portion of the renal glomerulus |
| abnormal embryonic cilium location or orientation | embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern |
| dilated ureter | abnormal distention of the ureter due to accumulation of fluid |
| double ureter | |
| syringomyelia | |
| abnormal intraocular pressure | An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. |
| abnormal hypothalamus physiology | An abnormal functionality of the hypothalamus. |
| cardiac ischemia | inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease |
| abnormal kidney calyx morphology | any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine |
| increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| increased glycosylated hemoglobin level | greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule |
| abnormal aerobic respiration | any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor |
| abnormal postnatal growth | anomaly in reaching a developmental stage or stages after birth |
| increased adrenocorticotropin level | increased concentration of adrenocorticotropic hormone |
| increased fat cell size | increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals |
| abnormal insulin secretion | anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids |
| increased lean body mass | greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue |
| decreased nerve conduction velocity | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| enlarged pancreatic islets | increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| increased interscapular fat pad weight | greater than average weight of the encapsulated adipose tissue located between the scapulae |
| increased fasting circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| abnormal femur morphology | any structural anomaly of the long bone of the thigh |
| abnormal hindlimb stylopod morphology | any structural anomaly of the proximal element of the hindlimb including the femur |
| abnormal AMPA-mediated synaptic currents | change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors |
| abnormal seizure response to inducing agent | anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior |
| decreased Sertoli cell phagocytosis | decreased phagocytic activity of testicular Sertoli cells |
| abnormal vestibular hair cell stereociliary bundle morphology | any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule |
| decreased outer hair cell stereocilia number | decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells |
| abnormal outer hair cell kinocilium location or orientation | outer hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern |
| increased vascular permeability | greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases |
| abnormal olfactory system physiology | any functional anomaly of the system relating to smell |
| abnormal splenocyte physiology | any functional anomaly of a cell of the spleen |
| abnormal somatic hypermutation frequency | any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells |
| increased germinal center B cell number | greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen |
| abnormal digestion | any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism |
| pale spleen | spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition |
| thin parietal bone | reduced thickness of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium |
| abnormal renal water reabsorption | any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream |
| decreased urine urea nitrogen level | abnormally low amounts of nitrogen in the form of urea in the urine |
| decreased urine creatinine level | a reduced amount of creatinine in the urine compared to the normal state |
| cleft upper lip | |
| abnormal maxillary shelf morphology | any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| unilateral cleft upper lip | a non-midline cleft occurring on only one side of the upper lip |
| bilateral cleft upper lip | a non-midline cleft occurring on both sides of the upper lip |
| median cleft palate | Cleft palate of the midline of the palate. |
| bilateral cleft palate | Nonmidline cleft palate on the left and right sides. |
| unilateral cleft palate | |
| abnormal inner ear canal morphology | any structural anomaly of the tubular ducts of the inner ear |
| abnormal superior semicircular canal morphology | any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance |
| decreased otolith number | reduced average number of the crystalline calciferous particles adhering to the otolithic membrane |
| abnormal semicircular canal ampulla morphology | any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals |
| abnormal turbinate morphology | any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage |
| abnormal palatal shelf morphology | any structural anomaly of either one of the paired outgrowths arising from the oral surface of the embryonic maxillary processes that come together during prenatal development to form the secondary palate |
| decreased palatal shelf size | reduced size of either one or both of the palatal shelves compared to controls |
| transmission ratio distortion | the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios |
| abnormal thyroid gland physiology | any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body |
| decreased circulating triiodothyronine level | reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| decreased activity of thyroid gland | reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body |
| increased activity of thyroid gland | increased function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body |
| abnormal thyroid-stimulating hormone level | anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland |
| decreased bone mineral content | reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area |
| decreased compact bone area | reduction in the total amount of cross-sectional area of compact bone tissue |
| decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests |
| abnormal cribriform plate morphology | any structural anomaly of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa; it is perforated by foramina for the passage of the olfactory nerves and the anterior ethmoidal nerves to the upper part of the nasal septum, the latter of those to the superior nasal concha |
| decreased glutamine level | reduction in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states |
| increased beta-alanine level | increase in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins |
| increased gamma-aminobutyric acid level | increase in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system |
| increased urine gamma-aminobutyric acid level | excretion of excessive amounts of gamma-aminobutyric in the urine |
| facial cleft | A congenital malformation with a cleft (gap or opening) in the face. |
| bronchial epithelial hyperplasia | increased numbers of cells lining the inner surfaces of the bronchi |
| absent photoreceptor inner segment | absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| decreased circulating levels of thyroid hormone | reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid |
| scaly ears | ears covered with shedding scales or flakes |
| abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology | A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. |
| adrenal gland hypoplasia | decrease in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in decreased size |
| decreased circulating corticosterone level | less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion |
| decreased circulating adrenocorticotropin level | decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex |
| abnormal body water content | more or less than the normal total amount of water retained in the body |
| decreased corticotroph cell number | reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) |
| abnormal synaptic vesicle recycling | any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles |
| reticulocytopenia | A reduced number of reticulocytes in the peripheral blood. |
| eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| increased ovary adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the ovary, occurring in a specific population in a given time period |
| increased lipoprotein lipase activity | greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate |
| decreased lung compliance | reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure |
| increased bronchoconstrictive response | enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| abnormal tendon morphology | An abnormality of the structure or form of the tendons, also often called sinews. |
| abnormal ligament morphology | any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones |
| fused joints | partial or complete absence of a functional articulation point of two or more bones |
| calcified joint | pathologic deposition of calcium salts in the joints |
| calcified tendon | pathologic deposition of calcium salts in the tendons |
| abnormal tooth hard tissue morphology | any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root |
| abnormal cementum morphology | any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth |
| abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| abnormal transverse acetabular ligament morphology | any structural anomaly of the fibrous continuation of the acetabular labrum that is completely collagenous and contains no chondrocytes or cartilage; it consists of strong, flattened fibers which cross the acetabular notch and convert it into the acetabular foramen through which nutrient vessels and nerves enter the hip joint; it prevents inferior displacement of head of femur |
| decreased joint mobility | reduced ability to move joints in a full range of motion and with ease |
| abnormal synovial joint cavity morphology | any structural anomaly of the minute space enclosed by the synovial membrane and articular cartilages in a synovial joint; it is the site at which the articulating surfaces of the bones contact each other; it contains synovial fluid, a highly viscous, hyaluronic acid rich fluid that lubricates the joint surfaces |
| abnormal leukocyte migration | altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV |
| abnormal large intestine morphology | any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal |
| megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| distended cecum | an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention |
| absent spleen white pulp | absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies |
| abnormal hypaxial muscle morphology | any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue |
| abnormal genioglossus muscle morphology | any structural anomaly of the paired, fan-shaped extrinsic tongue muscle which forms the majority of the body of the tongue, arises from the mental spine of the mandible and inserts into the hyoid bone and the bottom of the tongue; its action protracts and depresses the tongue |
| absent metacarpal bones | missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| small hindlimb buds | reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) |
| abnormal clitoris morphology | any structural anomaly of the small, erectile body located at the anterior end of the vulva |
| tight skin | skin has a taut, stretched appearance |
| skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| brain lesion | focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the brain tissue |
| abnormal nociception after inflammation | changes in pain thresholds after inflammation |
| abnormal sensory neuron physiology | any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| decreased susceptibility to induced hypothermia | smaller than expected drop in body temperature in response to treatment (cold-exposure, dietary restriction, ethanol treatment, etc..) designed to induce hypothermia |
| abnormal Purkinje cell innervation | any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells |
| cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal autophagy | abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery |
| abnormal mating preference | any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately |
| abnormal anxiety-related response | altered emotional response related to anticipation of a non-specific threat |
| increased circulating iron level | elevation in the concentration of iron in the blood |
| increased circulating arginine level | increase in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group; usually associated with a deficiency of arginase |
| decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| increased intestinal iron level | increase in the amount of iron present in the large or small intestinal tissue |
| arrhythmic circadian behavior persistence | loss of a behavioral rhythmic pattern upon removal of time cues |
| impaired gluconeogenesis | An impairment of gluconeogenesis. |
| abnormal blood cell morphology/development | any structural anomaly of any of the cells found in the blood or hematopoietic organ |
| broad head | a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout |
| increased autopod size | larger than average size of the autopod |
| abnormal heartbeat | anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction |
| increased thymocyte apoptosis | increase in the number of immature T cells located in the thymus that are undergoing programmed cell death |
| decreased body fat mass | decreased physical bulk or volume of fat in the whole body |
| failure of bone ossification | failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| abnormal hair shaft melanin granule distribution | disruption in the regular arrangement of pigment polymers in the hair shaft |
| abnormal mental foramen morphology | any structural anomaly of the small opening located on the anterior surface of the mandible; the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it |
| abnormal dentin mineralization | anomaly in the process by which calcium salts are deposited into dentin |
| abnormal molar root morphology | any structural anomaly of the part of a molar tooth that is implanted in the gum |
| decreased vestibular hair cell number | decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve |
| decreased vestibular hair cell stereocilia number | decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern |
| proportional dwarf | abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences |
| rhizomelic limb | the proximal portion of the limbs are dispropotionately shortened |
| abnormal fluid intake | significant anomaly in the total amount of fluid taken in over time when compared to the normal state |
| increased urine potassium level | greater than normal amount of potassium in the urine |
| decreased circulating potassium level | less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle |
| abnormal defecation | anomaly in the discharge of feces from the body |
| increased susceptibility to weight loss | greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| abnormal renal/urinary system morphology | any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism |
| increased circulating adrenocorticotropin level | elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex |
| abnormal renal/urinary system physiology | any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism |
| ectopic kidney | A developmental defect in which a kidney is located in an abnormal anatomic position. |
| large ureter | |
| decreased pancreas weight | reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream |
| increased trabecular bone thickness | thicker than normal bone with a lattice-like or spongy structure |
| abnormal aldosterone level | anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule |
| ureteropelvic junction atresia | congenital absence or closure of the connection between the ureter and the renal pelvis |
| ureteropelvic junction stenosis | a constriction or narrowing of the junction between the ureter and the renal pelvis |
| ureterovesical junction obstruction | a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder |
| increased adrenaline level | greater than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| abnormal osteoblast differentiation | atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| esophageal epithelium hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the epithelial layer lining the luminal space of the esophagus |
| toenail hyperkeratosis | keratin extensions from the toenails |
| penis prolapse | inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis |
| increased tongue papilloma incidence | greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the tongue |
| abnormal muscle relaxation | altered ability of the muscle to lengthen following contractions |
| achlorhydria | absence of hydrochloric acid in the gastric secretions |
| abnormal stomach enteroendocrine cell morphology | any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach |
| dilated gastric gland | stretched or widened aperture of the luminal space of one or more of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin |
| decreased renal plasma flow rate | less than the normal volume of plasma passing through the kidney per unit time |
| granular kidney | a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis |
| abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| amyloid beta deposits | formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease |
| decreased platelet serotonin level | reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity |
| abnormal platelet dense granule physiology | any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine |
| decreased platelet dense granule number | decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin |
| abnormal olfactory tract morphology | any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus |
| abnormal sensory neuron morphology | any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| abnormal gustatory system morphology | any structural anomaly of the organs involved in taste |
| abnormal timing of postnatal eyelid opening | anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open |
| thin neurocranium | decreased thickness of the bones of the skull enclosing the brain |
| subarachnoid hemorrhage | Hemorrhage occurring between the arachnoid mater and the pia mater. |
| decreased bone mineral density of lumbar vertebrae | reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| decreased macrophage apoptosis | reduced incidence of cell death in macrophages |
| decreased transitional stage B cell number | reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection |
| abnormal accessory nerve morphology | any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord |
| absent neuronal precursor cells | absence of the neuroblast embryonic cells that develop into nerve cells or neurons |
| lordokyphosis | a combination of kyphosis and lordosis |
| increased susceptibility to age-related hearing loss | greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary |
| increased hindbrain apoptosis | increase in the number of cells of the hindbrain undergoing programmed cell death |
| decreased susceptibility to Coronaviridae infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family |
| abnormal acute inflammation | aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response |
| decreased chemically-elicited antinociception | less than the normal analgesic effect of chemical substances |
| abnormal nervous system regeneration | changes in the ability or inability of healthy nervous system tissue to regenerate following injury or disease |
| abnormal urine enzyme level | any change in the level of enzymes in the urine |
| lysosomal protein accumulation | buildup of protein in the lysosome |
| abnormal eosinophil morphology | any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions |
| ectopic Bergmann glia cells | abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum |
| abnormal melanocyte morphology | any structural anomaly of the cells that produce pigment |
| decreased lysosomal enzyme secretion | production or release of glycoprotein hydrolytic enzymes is decreased compared to normal |
| abnormal vestibuloocular reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system in which impulses are conveyed from the semicircular canals and the otolithic membrane to the oculomotor nerve; this stimulation may occur by angular acceleration or deceleration or by irrigation of the ear with hot or cold water; normally, this reflex functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements |
| enhanced behavioral response to xenobiotic | increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response |
| alveolitis | |
| enlarged melanosome | greater than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored; giant melanosomes may become frequent in conditions of pathological melanogenesis |
| short endolymphatic duct | length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac |
| abnormal hypoglossal cord morphology | any structural anomaly of the condensed mesenchymal band formed as migratory myoblasts arising from the myotomes of the occipital somites coalesce beside somite four and extend ventrally as an elongated column; the hypoglossal cord eventually becomes located ventral to the caudal region of the pharynx; most of the myoblasts of the hypoglossal cord remain ventral and shift cranially to form the intrinsic and extrinsic tongue muscles; some of these myoblasts shift dorsally to form the intrinsic laryngeal muscles |
| abnormal cochlear nerve morphology | any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ |
| abnormal mast cell morphology | any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation |
| distended urinary bladder | |
| impaired contractility of urinary bladder detrusor smooth muscle | inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous signaling giving the urge to urinate; contraction of the detrusor muscle leads to urination, via emptying of the urine contained in the bladder through the urethra and urine excretion |
| anuria | |
| absent linear vestibular evoked potential | absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) |
| abnormal circulating estrogen level | aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics |
| long tail | increased length of tail relative to average of a given reference population |
| hyporesponsive to tactile stimuli | reduced reflex action normally induced by touch or pain |
| abnormal prostate gland ventral lobe morphology | any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck |
| abnormal vocalization | an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound |
| abnormal operant conditioning behavior | anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food |
| abnormal globus pallidus morphology | any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment |
| abnormal synaptic vesicle clustering | any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes |
| increased striatum size | greater size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking |
| enlarged thalamus | increased size of the thalamus |
| abnormal selenium level | any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes |
| increased cellular sensitivity to alkylating agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| increased muscle fatigability | increased muscle exhaustion or increased susceptibility to muscle exhaustion |
| abnormal mature B cell morphology | any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex |
| abnormal follicular B cell morphology | any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes |
| decreased susceptibility to Togaviridae infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family |
| increased urinary bladder carcinoma incidence | greater than the expected number of a malignant neoplasm of the urinary bladder, arising from epithelial cells, occurring in a specific population in a given time period |
| abnormal optokinetic reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina |
| urinary bladder inflammation | Inflammation of the urinary bladder. |
| increased urine uric acid level | |
| abnormal horizontal vestibuloocular reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system |
| urinary bladder fibrosis | invasion of fibrous connective tissue into the urinary bladder, often resulting from inflammation or injury |
| abnormal urinary bladder vasculature morphology | any structural anomaly of the network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| hemothorax | The presence of blood in the pleural space. |
| hemoperitoneum | Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. |
| decreased skin tensile strength | reduction in the normal maximum tension the skin can withstand without tearing |
| abnormal blood vessel elastic tissue morphology | any structural anomaly of the tissue that is found in the tunica media of the vessels wall and allows vessels to stretch |
| decreased aorta elastin content | reduction in the physical amount of elastin in the aorta compared to the normal state |
| aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| abnormal aorta elastic tissue morphology | any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall |
| decreased aorta wall thickness | decreased depth of the part of the aorta that encloses the luminal space |
| abnormal diaphragm central tendon morphology | any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers |
| abnormal type I pneumocyte morphology | any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange |
| lymphedema | |
| abnormal lymph circulation | abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system |
| abnormal retina cone cell morphology | any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision |
| increased circulating thyroid-stimulating hormone level | greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland |
| increased interleukin-2 secretion | increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes |
| thick apical ectodermal ridge | increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme |
| increased cochlear hair cell number | increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve |
| abnormal orientation of inner hair cell stereociliary bundles | misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium |
| decreased organ of Corti supporting cell number | decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti |
| retina cone cell degeneration | a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment |
| increased thyroid-stimulating hormone level | greater amount of the hormone that stimulates the growth and function of the thyroid gland |
| enlarged thyroid gland | |
| increased circulating thyroxine level | greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism |
| thyroid gland hyperplasia | |
| decreased cochlear outer hair cell electromotility | reduced motility of the cochlear OHCs in response to electrical stimulation |
| short cochlear outer hair cells | reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve |
| enlarged tectorial membrane | increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells |
| delayed inner ear development | slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea |
| abnormal tectorial membrane striated-sheet matrix morphology | any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in parallel within the plane of each sheet and are extensively linked along their length by staggered cross bridges; it originates medially within the sulcal zone, extends to the marginal band and is particularly evident in apical regions of the cochlea, where it has a less compressed appearance |
| abnormal tendon collagen fibril morphology | any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity |
| enlarged adrenocortical cells | larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland |
| abnormal circulating sodium level | any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume |
| abnormal circulating potassium level | anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle |
| absent scrotum | Congenital absence of the scrotum. |
| decreased circulating aldosterone level | A decreased level of aldosterone in the blood. |
| small adrenal glands | reduced size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla |
| absent bulbourethral gland | absence of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female |
| absent prostate gland anterior lobe | absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles |
| abnormal adrenal cortex morphology | any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone |
| abnormal susceptibility to autoimmune disorder | a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides |
| abnormal CD4-positive T cell differentiation | atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production |
| situs ambiguus | |
| abnormal interfrontal bone morphology | any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present |
| clubfoot | OMIM mapping confirmed by DO. [SN]. |
| cryptophthalmos | Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. |
| decreased luteinizing hormone level | lower than normal concentration of LH |
| abnormal circulating progesterone level | anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy |
| Leydig cell atrophy | acquired diminution of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH), associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| absent inguinal lymph nodes | absence of the lymph nodes normally located in the groin area |
| absent brachial lymph nodes | absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes |
| absent axillary lymph nodes | absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region |
| absent cervical lymph nodes | absence of the lymph nodes normally found near the neck and shoulders |
| decreased growth hormone level | less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization |
| abnormal sternum manubrium morphology | any structural anomaly of the broad, handle-like part of the sternum which articulates with the clavicles and the first two pairs of ribs |
| decreased macrophage cell number | fewer than the normal numbers of macrophages |
| buphthalmos | OMIM mapping confirmed by DO. [LS]. |
| bruising | an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related |
| absent acrosome | mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration |
| optic nerve atrophy | acquired diminution of the size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal eye size | deviation from the average range of eye size for a given organism |
| retina hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors |
| abnormal retina progenitor cell morphology | any structural anomaly of the cells that give rise to the various cells of the retina |
| pathological neovascularization | the proliferation of blood vessels in abnormal tissues or in abnormal positions |
| optic nerve hypoplasia | Underdevelopment of the optic nerve. |
| decreased retina ganglion cell number | reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain |
| thin retina ganglion layer | reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain |
| optic nerve coloboma | congenital defect of the optic nerve in which some part of the structure is absent |
| increased osteoclast cell number | greater than average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| abnormal liver lobule morphology | any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein |
| increased abdominal fat pad weight | greater than average weight of the encapsulated adipose tissue in the abdomen |
| increased ovary apoptosis | increase in the number of ovary cells undergoing programmed cell death |
| abnormal cochlear inner hair cell morphology | any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane |
| abnormal pinna reflex | anomaly in the response to an auditory stimulus by a characteristic ear twitch |
| abnormal vestibular hair cell morphology | any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae |
| abnormal pillar cell morphology | any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti |
| absent pillar cells | absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti |
| absent vestibular hair cell stereocilia | complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern |
| abnormal otoacoustic response | anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation |
| increased dendritic cell number | greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation |
| abnormal spike wave discharge | anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy |
| extremity edema | an accumulation of serous fluid in the limbs, paws and tail |
| abnormal fetal size | anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) |
| small clavicle | reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula |
| absent deltoid tuberosity | missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches |
| thoracic vertebral fusion | the union of one or more thoracic vertebrae into a single structure |
| long ribs | increased length of the bones forming the bony wall of the chest |
| absent skeletal muscle | absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body |
| small mandibular condyloid process | reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint |
| enlarged occipital bone | increased size of the bone at the lower, posterior part of the skull |
| absent prenatal movement | absence of any movements of a developing organism within the uterus |
| increased urine phosphate level | |
| endometrium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| abnormal Leydig cell morphology | any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles |
| absent germ cells | absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated |
| retention of the adrenal gland x-zone | failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females |
| rete testis obstruction | any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis |
| abnormal peritubular myoid cell morphology | any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule |
| ectopic Leydig cells | abnormal position of the interstitial cells of the seminiferous tubules, which normally reside in the peritubular space and extend from the coelomic surface to the dorsal surface of the gonad |
| increased Sertoli cell proliferation | increase in the expansion rate of a Sertoli cell population by cell division |
| mandibular retrognathia | abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues |
| decreased circulating interleukin-1 alpha level | reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active |
| decreased circulating interleukin-1 beta level | reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| taurinuria | excretion of excessive amounts of taurine in the urine |
| increased urine xanthine level | excretion of excessive amounts of xanthine in the urine; xanthine (2,6-dihydroxypurine) is a purine formed in the metabolic breakdown of guanine, but is not present in nucleic acids |
| absent inner cell mass | absence of the cells of the blastocyst that develop into the body of the embryo |
| abnormal muscle regeneration | anomaly in the ability to repair muscle after injury or disease |
| decreased circulating estrogen level | reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics |
| short estrous cycle | decrease in the length of the estrous cycle |
| prolonged proestrus | increase in the length of the proestrous phase of the estrous cycle in female animals |
| pituitary gland hypertrophy | increase in the bulk size of the pituitary gland due to cell enlargement |
| decreased prostate gland ventral lobe weight | reduction in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck |
| abnormal oviduct environment | anomaly or inability of the oviduct to support egg viability |
| decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca |
| absent caveolae | absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane |
| coarse hair | Hair shafts are rough in texture. |
| abnormal maternal behavior | any response from the mother or attending female related to the ability of young to thrive |
| enlarged spinous cells | increased size of the immature keratinocytes of the spinous layer of the epidermis |
| thin hypodermis | reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia |
| abnormal uterus weight | anomaly in the weight of the female organ of gestation |
| decreased placenta weight | reduction in the weight of the organ of metabolic interchange between fetus and mother |
| abnormal placenta junctional zone morphology | any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth |
| short diestrus | decrease in the length of the diestrous phase of the estrous cycle in female animals |
| short estrus | decrease in the length of the estrous phase of the estrous cycle in female animals |
| increased hair follicle number | greater number of the epidermal invaginations from which the hair shaft develops |
| cecum inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the cecum |
| decreased susceptibility to Picornaviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus |
| abnormal susceptibility to Orthomyxoviridae infection | any anomaly in the likelihood that an organism will develop ill effects from infection with one of the viruses whose genomes are composed of several (six to eight) segments of single-stranded RNA or from components of or toxins produced by a virus from this Family |
| decreased susceptibility to Orthomyxoviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus |
| abnormal eosinophil physiology | any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions |
| abnormal airway responsiveness | anomalous response in bronchial provocation tests |
| abnormal eosinophil cell number | deviation from the normal numbers of eosinophils |
| decreased circulating interleukin-4 level | reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| impaired eosinophil recruitment | reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions |
| impaired eosinophil chemotaxis | defect in the movement of eosinophils guided by a specific chemical concentration gradient |
| abnormal hemostasis | any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part |
| decreased susceptibility to fungal infection | reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms |
| decreased interleukin-1 beta secretion | reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| increased interleukin-5 secretion | increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells |
| decreased airway resistance | reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| abnormal loop of Henle morphology | any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine |
| absent temporal bone squamous part | absence of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault |
| absent temporomandibular joint | absence of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones |
| abnormal incus short process morphology | any structural anomaly of the short limb (crus) of the incus that fits into a depression (fossa incudis) in the epitympanic recess; it is attached to the cavity wall by the posterior incudal ligament |
| abnormal neurohypophysis morphology | any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone |
| abnormal pituicyte morphology | any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones |
| abnormal endometrial gland morphology | any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity |
| small uterine cervix | reduced size of the lower opening of the uterus to the vagina |
| decreased granulocyte number | |
| short inner hair cell stereocilia | reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells |
| abnormal granulocyte differentiation | atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils |
| abnormal monocyte differentiation | atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood |
| increased interleukin-1 beta secretion | increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| steatorrhea | |
| abnormal facial skin morphology | any anomaly in a zone of skin that is part of the face |
| corneal epithelium hyperplasia | increase in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in increased size |
| ovary hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the ovary |
| delayed hair regrowth | slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase |
| abnormal ciliary body pigmentation | anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris |
| abnormal renal reabsorption | any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules |
| abnormal renal protein reabsorption | any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron |
| small malleus | reduced size of the largest of the three auditory ossicles, which resembles a club or hammer |
| small incus | reduced size of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially |
| abnormal incudostapedial joint morphology | any structural anomaly of the small synovial joint located between the lenticular process on the long crus of the incus and the head of the stapes |
| abnormal incudomalleolar joint morphology | any structural anomaly of the saddle-shaped synovial joint located between the incus and the malleus |
| small middle ear ossicles | reduced size of the three bones of the middle ear |
| small stapes | reduced size of the stirrup-shaped ossicle that is the smallest and innermost of the three auditory ossicles |
| absent coronal suture | failure to form the dense, fibrous connective tissue joint between the parietal bones and the frontal bone |
| abnormal stapes annular ligament morphology | any structural anomaly of the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear |
| absent stapes annular ligament | missing the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear |
| long toenails | increased length of the toenails |
| abnormal peripheral lymph node morphology | any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes |
| decreased abdominal adipose tissue amount | reduction in amount of adipose tissue associated with internal organs |
| abnormal hair cortex morphology | any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix |
| abnormal hair cycle anagen phase | anomaly in the growth phase of the hair cycle |
| decreased circulating renin level | An decreased level of renin (PRO:000013883) in the blood. |
| impaired sperm capacitation | reduced ability or inability to undergo the changes in spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg |
| anosmia | An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. |
| premature acrosome reaction | spontaneous initiation of the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs, occurring prior to encountering conditions that induce sperm capacitation |
| enhanced behavioral response to addictive substance | increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response |
| enhanced behavioral response to cocaine | increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response |
| skeletal muscle fiber degeneration | pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function |
| skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| hyperdipsia | intense thirst that is relatively temporary |
| embryonic lethality | death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14) |
| abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| increased NAD(P)H oxidase activity | greater ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide |
| patent ductus venosus | failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults |
| abnormal Langerhans cell morphology | any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus |
| abnormal ovary physiology | any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone |
| abnormal germ cell morphology | Any structural anomaly of a reproductive cell. |
| increased circulating corticotropin-releasing hormone level | higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland |
| adrenal cortical hyperplasia | overdevelopment of the thick outer layer of the adrenal gland that produces and secretes steroid hormones, usually due to an increase in the number of cells |
| abnormal spleen marginal sinus morphology | any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood |
| abnormal Peyer's patch T cell area morphology | any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes |
| photosensitivity | |
| abnormal copper homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins |
| decreased molar number | reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface |
| hemivertebra | a congenital malformation of the spine in which only half of a vertebral body develops |
| delayed cranial suture closure | Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. |
| abnormal tail ring morphology | any structural anomaly of the segmentally patterned skin ridges appearing on the tail of rodents |
| small lower incisors | reduced size of the lower set of long teeth that are the most anterior and prominent in the jaw |
| long upper incisors | increased length or overgrowth of the upper set of long teeth that are the most anterior and prominent in the jaw |
| abnormal molar cusp morphology | any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface |
| impaired granulocyte bactericidal activity | inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria |
| abnormal epidermis stratum spinosum morphology | any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance |
| pulmonary interstitial fibrosis | formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process |
| decreased spleen red pulp amount | reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation |
| abnormal bone marrow cell physiology | any functional anomaly of any of the cells found in the bone marrow |
| dyskeratosis | premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off |
| decreased telomere length | reduction in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs |
| unilateral cryptorchism | failure of one of the testes to descend into the scrotum |
| increased erythrocyte clearance | increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life |
| increased erythrocyte aggregation | increase in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules |
| increased erythrocyte sedimentation rate | an increase in the rate at which red blood cells descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; an elevated rate may indicate inflammation or may be caused by any condition that elevates fibrinogen |
| increased B-1a cell number | greater number of the B-1 B cell subset bearing the CD5 surface marker |
| decreased B-2 B cell number | reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells |
| abnormal CD8-positive, alpha-beta T cell differentiation | atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| mammary gland alveolar hyperplasia | overdevelopment or increased size, usually due an increased number of cells of the sac-like structure of the mammary gland that secretes milk after pregnancy |
| mammary gland duct hyperplasia | overdevelopment or increased size, usually due an increased number of cells of the tubular structure running from the nipple to the alveoli clusters in the mammary gland |
| diffuse hepatic necrosis | morphological changes resulting from disseminated pathological death of some or all liver tissue; usually due to irreversible damage |
| increased gonad tumor incidence | greater than the expected number of an abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass, occurring in a specific population in a given time period |
| chronic liver inflammation | persistent inflammatory response in the liver, often caused by persistent infection or during an autoimmune response |
| retina pigment epithelium atrophy | acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| proboscis | 1: The trunk of an elephant; also: any long flexible snout. 2: Any of various elongated or extensible tubular processes as the sucking organ of a butterfly of the oral region of an invertebrate. |
| abnormal podocyte slit junction morphology | any structural anomaly of the gaps between the interdigitated foot processes of the podocyte |
| absent intersomitic vessels | absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| herniated intestine | protrusion of any portion of the intestine from its normal anatomical position |
| herniated liver | protrusion of any portion of the liver from its normal anatomical position |
| absent falciform ligament | missing the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; normally, it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver |
| abnormal trophoblast glycogen cell morphology | any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta |
| abnormal dentin development | any anomaly in the process whose specific outcome is the formation of dentin, the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root; dentinogenesis begins prior to enamel formation and is initiated by the odontoblasts of the dental pulp; dentin is derived from the dental papilla of the tooth germ; after apposition of predentin and maturation into dentin, the cell bodies of the odontoblasts remain in the pulp inside the tooth, along its outer wall; unlike enamel, dentin continues to form throughout life and can be initiated in response to stimuli, such as tooth decay or attrition |
| abnormal enamel development | any anomaly in the process whose specific outcome is the formation of dental enamel, the hard outer coating of the exposed portion of the tooth; amelogenesis occurs after the first establishment of dentin, via cells known as ameloblasts, and can generally be divided into two broad stages: (i) a secretory stage that involves proteins and an organic matrix forming a partially mineralized enamel and (ii) a maturation stage which completes enamel mineralization |
| decreased spongiotrophoblast cell number | reduction in the number of trophoblast cells that arise in the junctional zone of the placenta |
| abnormal mature ovarian follicle morphology | any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle |
| short sperm flagellum | decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility |
| abnormal sperm principal piece morphology | any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece |
| abnormal outer dense fiber morphology | any structural anomaly of the highly condensed, modified intermediate cytoskeletal filaments strengthened by disulfide linked keratin proteins that progress from the midpiece to the principal piece of the sperm tail; outer dense fibers are believed to maintain flagellar elasticity and play a role in the protection of the sperm tail against shear forces during epididymal transport and ejaculation |
| broad supraoccipital bone | increased width of the bone on the dorsal side of the great foramen of the skull, which usually forms a part of the occipital in the adult, but is distinct in the young |
| increased mean platelet volume | Average platelet volume above the upper limit of the normal reference interval. |
| absent megakaryocytes | absence of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| abnormal eosinophil differentiation | atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions |
| pleuritis | |
| hematuria | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| increased susceptibility to type III hypersensitivity reaction | greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury |
| abnormal kidney capillary morphology | any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues |
| mesangial cell interposition | spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM) |
| decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| decreased megakaryocyte cell number | reduced number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| absent lactotrophs | absence of an acidophilic cell of the anterior pituitary that produces prolactin |
| increased thyrotroph cell number | greater number of an anterior pituitary cell that produces thyroid-stimulating hormone |
| carpoptosis | paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve |
| abnormal olfactory neuron innervation pattern | any changes in the placement, morphology or number of axons from olfactory neurons to an effector tissue or to olfactory glomeruli or olfactory bulb |
| impaired smooth muscle contractility | inability or reduced ability of the smooth muscle to shorten or to develop increased tension |
| decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| abnormal dopamine level | greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary |
| decreased susceptibility to induced choroidal neovascularization | reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) |
| abnormal outer ear skin morphology | any anomaly in a zone of skin that is part of an outer ear |
| decreased cerebral infarct size | decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply |
| reduced thrombolysis | reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow |
| decreased susceptibility to induced retina damage | reduced or absent pathological changes in the retina due to chemical or mechanical agents |
| abnormal epidermis stratum corneum morphology | any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells |
| reduced hair shaft melanin granule number | the number of pigment polymers in the hair shaft is less than normal |
| short nails | decrease in the length of the nails |
| nail dystrophy | Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. |
| abnormal nail plate morphology | any structural anomally of the hard and translucent portion of the nail, composed of keratin, which serves to protect the tips of digits |
| abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| abnormal corneocyte morphology | any structural anomaly of the de-nucleated, dead keratin-filled squamous cell of the stratum corneum; a corneocyte is the last stage of development of a keratinocyte where the keratinocyte flattens, loses its nucleus and eventually delaminates from the epidermis |
| prominent ears | protuberant outer ears |
| small myocardial fiber | decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| small xiphoid process | reduced size of the caudal tip of the sternum |
| skeletal muscle degeneration | pathological deterioration of skeletal muscle tissue, often accompanied by loss of function |
| cardiac muscle degeneration | pathological deterioration of cardiac muscle tissue, often accompanied by loss of function |
| decreased sebaceous gland number | fewer than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts |
| decreased eccrine gland number | fewer than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present |
| elevated level of mitotic sister chromatid exchange | increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis |
| abnormal ventromedial hypothalamic nucleus morphology | any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity |
| urinary incontinence | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| abnormal urine color | any alteration from the usual straw-coloration of the urine |
| abnormal autonomic nervous system physiology | A functional abnormality of the autonomic nervous system. |
| distended stomach | an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention |
| abnormal urinary bladder mucosa morphology | any structural anomaly of the mucous membrane lining the urinary bladder |
| abnormal cochlear nerve compound action potential | anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation |
| abnormal cochlear IHC efferent innervation pattern | any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs |
| abnormal cerebellum lobule morphology | any structural anomaly of the ten gyri of the cerebellar cortex |
| abnormal small intestinal microvillus morphology | any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold |
| abnormal retrosplenial region morphology | any structural anomaly of one of the key brain regions required for cognitive functions, including episodic memory, navigation, imagination and planning for the future; the retrosplenial region can be divided into three parts, the retrosplenial granular cortex A, the retrosplenial granular cortex B and the retrosplenial dysgranular cortex; each subdivision of the retrosplenial cortex projects to a discrete terminal field in the hippocampal formation |
| abnormal prepulse inhibition | anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| increased sensitivity to skin irradiation | increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage |
| photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| decreased urine protein level | less than the normal amount of proteins in the urine |
| hyperchylomicronemia | |
| decreased lipoprotein lipase activity | reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate |
| decreased triglyceride lipase activity | reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion |
| abnormal mast cell differentiation | atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation |
| abnormal sleep pattern | deviation from the normal wake/sleep cycle |
| abnormal sleep duration | any anomaly in the amount of time spent asleep in a defined period of time |
| abnormal basal metabolism | any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| abnormal hepatocyte physiology | any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules |
| abnormal circadian sleep/wake cycle | any anomaly in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm |
| decreased diameter of ulna | reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| cardiac edema | abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention |
| decreased type II pneumocyte number | reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored |
| absent ethmoid bone | missing the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa |
| bowed tibia | increased curvature of the medial and larger of the two bones of the lower leg |
| bowed ulna | increased curvature of the medial and larger of the two bones of the forearm |
| bowed fibula | increased curvature of the lateral and smaller bone of the lower limb |
| abnormal respiratory conducting tube morphology | any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles |
| decreased trabecular bone thickness | thinner than normal bone with a lattice-like or spongy structure |
| abnormal chondrocyte physiology | any functional anomaly of nondividing cartilage cells |
| small alveolar lamellar bodies | decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| abnormal rib joint morphology | any anomaly in the normal joining of the ribs to the vertebral column or to the sternum |
| abnormal pubis morphology | any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis |
| increased allantois apoptosis | increase in the number of cells of the allantois undergoing programmed cell death |
| decreased muscle weight | less than average muscle weight |
| abnormal white adipose tissue physiology | any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels |
| decreased circulating glycerol level | reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source |
| abnormal scrotum morphology | any structural anomaly of the external sac of skin that encloses the testes |
| decreased adrenocorticotropin level | decreased concentration of adrenocorticotropic hormone |
| abnormal retina cone cell outer segment morphology | any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane |
| enhanced osteoblast differentiation | increased ability or increased rate of production of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| ectopic bone | the appearance of an extra bone structure at an atypical location |
| abnormal melanogenesis | anomaly in the biosynthetic pathway of melanin formation in cells |
| abnormal optic choroid morphology | any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera |
| abnormal vesicle-mediated transport | anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell |
| decreased platelet ATP level | reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets |
| small trigeminal motor nucleus | reduced size of the group of motor neurons innervating the muscles of mastication |
| abnormal microtubule cytoskeleton morphology | any structural anomaly of the part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins |
| abnormal cerebellar Golgi cell morphology | any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat |
| hypermyelination | increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath |
| absent lymphocyte | absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells |
| absent B cells | absence of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens |
| decreased plasmacytoid dendritic cell number | reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli |
| abnormal immunoglobulin heavy chain V(D)J recombination | any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined |
| abnormal T cell receptor beta chain V(D)J recombination | any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined |
| abnormal esophagus morphology | any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach |
| increased mast cell number | greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation |
| enlarged cecum | increased size of the large sac at the ileum and large intestine junction |
| increased gastrointestinal stromal tumor incidence | higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas |
| interstitial cells of Cajal hyperplasia | increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction |
| abnormal myenteric nerve plexus morphology | any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses |
| embryonic lethality before implantation | death anytime between fertilization and implantation (Mus: E0 to less than E4.5) |
| absent hippocampus stratum oriens | |
| increased granulosa cell tumor incidence | greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period |
| abnormal Reissner membrane morphology | any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala |
| abnormal type II spiral ligament fibrocytes | any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence |
| abnormal type IV spiral ligament fibrocytes | any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest |
| abnormal patterning of the organ of Corti | anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows |
| abnormal Boettcher cell morphology | any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport |
| abnormal Cajal body morphology | alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs |
| nonsyndromic hearing loss | a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear |
| prominent forehead | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| abnormal seminal vesicle morphology | any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra |
| abnormal mating receptivity | deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior |
| abnormal voluntary movement | anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience |
| decreased core body temperature | reduced degree of heat natural to the internal center of a living being |
| enhanced skeletal muscle regeneration | increase in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease |
| decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| abnormal compact bone lamellar structure | any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons |
| camptomelia | a skeletal dysplasia characterized by the bending of the long bones of the extremities |
| increased osteocyte number | greater than average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi |
| abnormal knee joint morphology | any structural anomaly of the synovial hinge joint formed between the femur, tibia, and patella; it involves two articulations: the tibiofemoral joint, connecting the proximal tibia to the distal femur, and the patellofemoral joint, connecting the patella to the femur; the knee joint allows flexion and extension of the leg, as well as slight medial rotation in end extension, and lateral rotation when unlocking the knee |
| abnormal subendocardium layer morphology | any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart |
| pup cannibalization | the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own |
| abnormal hypodermis morphology | any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers |
| thick hypodermis | increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia |
| small caput epididymis | decrease in the average size of the head of the epididymis |
| ventricular cardiomyopathy | diseases of the ventricles of the heart |
| diffuse Z line | widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere |
| abnormal A band morphology | any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line |
| exocrine pancreas hyperplasia | overdevelopment or increased size of the portion of the pancreas that secretes digestive enzymes, usually due to an increased cell number |
| abnormal radial glial cell morphology | any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult |
| decreased bone strength | reduced ability of bone to endure the application of force without yielding or breaking |
| dilated rete testis | an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid |
| increased retroperitoneal fat pad weight | greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum |
| failure of ejaculation | inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period |
| decreased circulating osteocalcin level | less than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts |
| decreased femoral compact bone area | reduction in the total amount of cross-sectional area of compact bone tissue in the femur |
| abnormal pancreatic alpha cell morphology | any structural anomaly of the cells of the pancreas that secrete glucagon |
| abnormal pancreatic delta cell morphology | any structural anomaly of the cells found in the pancreas that secrete somatostatin |
| disorganized stomach mucosa | derangement of the pattern of the mucous layer of the stomach wall |
| regional gastric metaplasia | localized areas of the stomach in which there is a change from one adult cell type to another adult cell type |
| increased sensory neuron number | greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| abnormal type I hypersensitivity reaction | anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks |
| decreased susceptibility to induced arthritis | less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents |
| decreased susceptibility to autoimmune hemolytic anemia | reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely |
| decreased interleukin-12 secretion | reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells |
| increased splenocyte proliferation | increase in the expansion rate of a splenocyte cell population by cell division |
| abnormal female meiosis I arrest | any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time |
| abnormal double-strand DNA break repair | any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix |
| absent primordial ovarian follicles | absence of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles |
| increased female germ cell apoptosis | increase in the number of female germ cells undergoing programmed cell death |
| decreased susceptibility to type II hypersensitivity reaction | less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved |
| decreased mast cell degranulation | reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell |
| abnormal extraembryonic coelom morphology | any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity |
| abnormal testes secretion | anomaly in the production and/or release of hormones from testicular tissue |
| increased follicle stimulating hormone level | greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| abnormal anus morphology | any structural anomaly of the lower opening of the digestive tract |
| increased presacral vertebrae number | greater number of the vertebrae anterior to the sacrum |
| increased osteoblast apoptosis | increase in the number of osteoblasts undergoing programmed cell death |
| increased osteocyte apoptosis | increase in the number of osteocytes undergoing programmed cell death |
| increased chondrocyte apoptosis | increased number of chondrocytes undergoing programmed cell death |
| increased prolactin level | greater than expected concentration of the hormone that stimulates milk secretion |
| enlarged lung | increased size of the lung compared to controls |
| extended life span | persistence of life for a longer period than is normal for an organism |
| abnormal long-term depression | change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons |
| absent coronary vessels | absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation |
| supravalvar pulmonary trunk stenosis | diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve |
| uterus hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the uterus |
| increased mature ovarian follicle number | than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle |
| enlarged endometrial glands | increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus |
| decreased hyperactivated sperm motility | loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro |
| abnormal somatosensory cortex physiology | any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface |
| dystonia | |
| abnormal Harderian gland morphology | any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane |
| abnormal response to vitamins | altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body |
| fused tracheal cartilage rings | fusion of the 16-20 incomplete rings of hyaline cartilage that form the skeleton of the trachea |
| abnormal epidermal lamellar body morphology | any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae |
| seminal vesicle atrophy | acquired size diminution of the seminal vesicles, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| squamous metaplasia of seminal vesicles | a benign non-cancerous transformation of the pseudostratified columnar epithelium lining the seminal vesicle(s) into stratified squamous epithelium; may occur in response to irritation or inflammation and involve keratinization |
| squamous metaplasia of prostate gland | a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium |
| abnormal testis size | anomaly in the size of the male reproductive glands |
| increased gonadotroph cell number | greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) |
| enlarged sperm head | increased size of the head segment of the sperm cell |
| Leydig cell hypertrophy | increased size of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH) |
| abnormal type IV hypersensitivity reaction | anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
| decreased tumor incidence | less than the expected number of neoplasms in a specific population in a given time period |
| abnormal enterocyte morphology | any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen |
| abnormal circulating serum albumin level | |
| absent erythroid progenitor cell | lack of progenitors of the erythrocyte lineage |
| decreased circulating creatinine level | less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction |
| increased susceptibility to type IV hypersensitivity reaction | greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
| decreased incidence of tumors by UV induction | lower than normal frequency of tumor incidence induced by exposure to ultraviolet light |
| decreased length of allograft survival | compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive |
| increased large intestine adenocarcinoma incidence | higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine |
| increased leukotriene level | increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells |
| decreased trabecular bone mass | reduced total amount of trabecular bone tissue contained in the skeleton |
| decreased compact bone mass | less than normal total amount of compact bone tissue contained in the skeleton |
| increased placental labyrinth size | increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| abnormal plasma cell differentiation | atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin |
| abnormal optic canal morphology | any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the opthalmic artery |
| abnormal tongue position | atypical location or placement of the tongue in the oral cavity |
| abnormal post-tetanic potentiation | defects in the size or duration of potentials that persist after tetanic stimulation of central synapses |
| abnormal synaptic plasticity | anomaly in the ability of a synapse to change its strength as a result of successive activations |
| enhanced contextual conditioning behavior | increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) |
| absent paraxial mesoderm | absence or loss of the mesoderm normally found at either side of the midline embryonic notochord that, on segmentation, forms the paired somites. |
| decreased B-1b cell number | |
| abnormal cardiovascular development | aberrant formation or incomplete differentiation of the cardiovascular system |
| decreased transitional stage T2 B cell number | reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles |
| temporal bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull |
| increased tongue size | |
| abnormal midface morphology | any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface |
| small neurocranium | decreased size of the bones of the skull enclosing the brain |
| abnormal lung saccule morphology | any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth |
| sebaceous gland atrophy | acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| decreased unsaturated fatty acids level | reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms |
| progressive hair loss | thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth |
| abnormal interferon secretion | anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions |
| increased susceptibility to Picornaviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family |
| increased susceptibility to Togaviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family |
| decreased response of heart to induced stress | decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| increased epididymis weight | increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| enlarged caput epididymis | increase in the average size of the head of the epididymis |
| enlarged corpus epididymis | increase in the average size of the body of the epididymis |
| short excitatory postsynaptic current decay time | |
| retina hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors |
| abnormal eye posterior chamber morphology | any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly |
| vitreous body deposition | abnormal accumulation of material in the vitreous body |
| heart valve hyperplasia | overdevelopment or increased size, usually due an increased number of cells of the heart valves |
| retrognathia | An abnormality in which the mandible is mislocalised posteriorly. |
| absent spiral limbus | absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea |
| absent Rosenthal canal | absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea |
| small temporal bone | reduced size of the large, irregular bone located at the base and side of the skull |
| absent occipital bone | absence of the bone at the lower, posterior part of the skull |
| absent pterygoid process | absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes |
| absent alisphenoid bone | absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young |
| absent interdental cells | absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane |
| abnormal trochanter morphology | any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles |
| absent mandibular angle | absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles |
| abnormal uterine horn morphology | any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures |
| inlet ventricular septal defect | .A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. |
| pulmonary artery hypoplasia | Underdevelopment of the pulmonary artery. |
| ascending aorta hypoplasia | underdevelopment or reduced size of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise, usually due to reduced cell number |
| aortic arch hypoplasia | underdevelopment or reduced size of the aortic arch, usually due to reduced cell number |
| persistent right dorsal aorta | persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms |
| patent aortic valve | the aortic valve remains open during the cardiac cycle |
| patent pulmonary valve | the pulmonary valve remains open during the cardiac cycle |
| thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
| thick tricuspid valve | an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness |
| ectopic adrenal gland | Abnormal anatomical location of the adrenal gland. |
| large fontanelles | In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. |
| small olecranon | size reduction of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow |
| bulbourethral gland hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the bulbourethral gland |
| bulbourethral gland cyst | presence of one or more membrane-lined sacs containing gas, fluid, or semisolid matter in the bulbourethral gland |
| abnormal cochlear microphonics | any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst |
| abnormal hair cell mechanoelectric transduction | anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation |
| increased prolactinoma incidence | greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period |
| abnormal orientation of outer hair cell stereociliary bundles | misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium |
| craniorachischisis | Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. |
| absent liver | absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage |
| increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| increased neural tube apoptosis | increase in the number of cells of the neural tube undergoing programmed cell death |
| decreased embryonic neuroepithelial cell proliferation | decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division |
| increased fetal size | larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) |
| increased birth body size | increase in average body size at birth compared to controls |
| paternal imprinting | establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself |
| abnormal nipple morphology | any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open |
| dystocia | slow or difficult delivery of offspring and/or placenta |
| abnormal mammary gland duct morphology | any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female |
| abnormal pubic symphysis morphology | any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments |
| decreased nipple size | reduced size of the erectile projection at the apex of the mammary gland where the lactiferous ducts open |
| decreased cholesterol level | less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| interparietal bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| narrow frontonasal prominence | decreased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout |
| abnormal mandibular dental arch morphology | any structural anomaly of the dental arch formed by the teeth of the mandible (lower jaw bone) |
| preaxial polydactyly | A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. |
| delayed intestine development | slowed progression to a structurally mature intestine |
| abnormal frontonasal mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head |
| persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| abnormal erythrocyte cell number | altered number of the cells that transport oxygen, red blood cells, per unit |
| abnormal interventricular septum muscular part morphology | any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart |
| abnormal intestinal transit time | increase or decrease in the time it takes for a bolus of material to pass through the intestine |
| stomach fundus hypertrophy | increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids |
| increased circulating histidine level | the amount of the amino acid histidine in the blood is more than expected |
| decreased circulating proline level | reduction in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins |
| absent respiratory motile cilia | absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract |
| absent brain ependyma motile cilia | absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid |
| situs inversus totalis | A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. |
| absent oviduct epithelium motile cilium | absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct |
| abnormal spleen mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen |
| ear telangiectases | vascular lesion formed by dilation of a group of small blood vessels in the ear |
| neck telangiectases | vascular lesion formed by dilation of a group of small blood vessels in the neck |
| tail telangiectases | vascular lesion formed by dilation of a group of small blood vessels in the tail |
| enhanced lipolysis | increase in the rate of the hydrolysis of fat into free fatty acids |
| primary atelectasis | nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration |
| tachypnea | Very rapid breathing. |
| abnormal dorsal interneuron 2 morphology | any structural anomaly of the dorsal interneurons that are ascending, contralaterally projecting, relay interneurons, migrate to the intermediate spinal cord and ventral horn, and are characterized by expression of Olig3, Nlgn1, Brn3a, Foxd3, Lhx1, and Lhx5 |
| abnormal dorsal interneuron 4 morphology | any structural anomaly of the dorsal interneurons that are GABAergic, project ipsilaterally, are somatosensory associative, migrate to the deep dorsal horn, and are characterized by expression of Msx1, Ascl1, Gsh1, Gsh2, Lbx1, Pax2, Lhx1, Lhx5, and Ptf1a |
| abnormal fontanelle morphology | any structural anomaly in the membranous interval at the margins of cranial bones in neonates |
| abnormal bronchus epithelium morphology | any structural anomaly of the epithelial layer of the bronchi |
| abnormal pleural cavity morphology | any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation |
| abnormal lymph organ development | anomaly in the process of morphological maturation of the organs of the lymph system |
| absent retina horizontal cells | absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina |
| increased pancreatic acinar cell number | increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes |
| abnormal endocrine pancreas morphology | any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans |
| chylothorax | Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. |
| decreased cochlear microphonics | reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound |
| abnormal Claudius cell morphology | any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti) |
| absent cochlear outer hair cell electromotility | absence or loss of motility of the cochlear OHCs in response to electrical stimulation |
| abnormal cardiac thrombosis | any anomaly in the formation or presence of one or more thrombi in the heart |
| abnormal lung thrombosis | any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the lung |
| abnormal brain thrombosis | any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the brain |
| abnormal vasoconstriction | anomaly in the narrowing of the blood vessels by smooth muscle contraction |
| abnormal gonadal fat pad morphology | any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes |
| abnormal pulmonary endothelial cell surface | altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell |
| decreased white fat cell lipid droplet size | reduction in the size of the single large lipid droplet or vacuole of white fat cells |
| pulmonary hyperemia | increased amount of blood flow into the lungs |
| increased circulating CXCL10 level | elevation in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites |
| increased femoral compact bone area | increase in the total amount of cross-sectional area of compact bone tissue in the femur |
| decreased circulating carnitine level | lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane |
| absent memory B cells | absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin |
| abnormal dermis reticular layer morphology | any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles |
| abnormal response to novelty | alteration in amount of exploration/investigation of a novel object, situation or environment |
| absent amniotic cavity | absence of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds |
| abnormal oligodendrocyte physiology | any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS |
| absent interventricular septum membranous part | absence of the membranous portion of the wall between the two lower chambers of the heart |
| visceral vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs |
| increased urine microalbumin level | |
| decreased podocyte number | reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle |
| abnormal lymphocyte chemotaxis | any anomaly in the directed movement of a lymphocyte in response to an external stimulus |
| abnormal podocyte adhesion | any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress |
| detached podocyte | detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine |
| abnormal fibroblast chemotaxis | any anomaly in the directed movement of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) |
| decreased fibroblast chemotaxis | reduction in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) |
| abnormal costochondral joint morphology | any structural anomaly of the hyaline cartilaginous joint (synchondrosis) between each rib and its costal cartilage; the articulation is between the cup-shaped depression in the sternal end of a rib and the lateral end of a costal cartilage; the rib and its cartilage are firmly bound together by the continuity of the periosteum of the rib with the perichondrium of the cartilage; no movement normally occurs at these joints |
| abnormal microtubule organizing center morphology | any anomaly of the intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides |
| abnormal biopterin level | anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions |
| abnormal neopterin level | anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection |
| decreased serotonin level | reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity |
| decreased noradrenaline level | reduced amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| increased phenylalanine level | increase in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin |
| narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| abnormal paradoxical sleep pattern | any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| abnormal non-rapid eye movement sleep pattern | any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming |
| polyploidy | |
| abnormal fatty acids level | any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated |
| decreased circulating VLDL triglyceride level | lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue |
| abnormal blastocyst morphology | any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo |
| abnormal lysosome physiology | ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired |
| abnormal capillary branching pattern | any changes in the placement, morphology or number of divisions of the capillaries |
| choroidal neovascularization | new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera |
| decreased susceptibility to kidney reperfusion injury | a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia |
| abnormal negative T cell selection | any anomaly in the process of elimination of immature T cells which react strongly with self-antigens |
| decreased T cell apoptosis | decrease in the number of T cells undergoing programmed cell death |
| abnormal enterocyte physiology | any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen |
| abnormal enterocyte proliferation | anomaly in the ability of the enterocyte cell population to undergo expansion by cell division |
| absent cerebellar granule layer | absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border |
| abnormal neuron proliferation | any anomaly in the ability of a neuron to undergo rapid expansion by cell division |
| decreased cerebellar granule cell precursor proliferation | reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division |
| lenticonus | A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. |
| abnormal paranodal axoglial junction morphology | any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components |
| increased pancreatic islet cell adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period |
| abnormal NK T cell number | deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| increased hemoglobin concentration distribution width | higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia |
| increased circulating lactate dehydrogenase level | elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types |
| decreased circulating haptoglobin level | decreased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity |
| absent tarsus bones | absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones |
| increased prepulse inhibition | increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| retina fibrosis | invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury |
| abnormal glomerular mesangium morphology | any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells |
| abnormal paraventricular hypothalamic nucleus morphology | any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus |
| epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| abnormal cervical lymph node morphology | any structural anomaly of the lymph nodes found near the neck and shoulders |
| abnormal lymphatic vessel endothelial cell morphology | any structural anomaly of the cells that line the lymphatic vessels |
| abnormal lymphatic system physiology | any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues |
| decreased keratohyalin granule size | reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| abnormal epidermal-dermal junction morphology | any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction |
| abnormal pilosebaceous unit morphology | any structural anomaly of an epidermal invagination consisting of hair, hair follicle, arrector pili muscle and sebaceous gland |
| joint contracture | chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints; a flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively |
| decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hyperplasia |
| absent pro-B cells | absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs |
| abnormal erythroblast morphology | any structural anomaly of the nucleated precursor of erythrocytes |
| decreased fetal derived definitive erythrocyte cell number | reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins |
| abnormal vitamin C level | any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species |
| decreased thyroid-stimulating hormone level | reduced amount of the hormone that stimulates the growth and function of the thyroid gland |
| abnormal impulse conducting system conduction | any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart |
| abnormal ST segment | An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. |
| fused outer hair cell stereocilia | coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia |
| short outer hair cell stereocilia | reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells |
| abnormal embryo implantation | anomaly in the process in which the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development |
| abnormal spongiotrophoblast cell morphology | any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta |
| increased chemically-elicited antinociception | greater than the normal analgesic effect of chemical substances |
| abnormal circulating tumor necrosis factor level | anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| increased interleukin-12b secretion | increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 |
| abnormal motor nerve collateral sprouting | aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease) |
| abnormal adrenal gland zona fasciculata morphology | any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone) |
| decreased pacinian corpuscle number | fewer than the expected number of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object |
| small pacinian corpuscles | decreased size of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object |
| abnormal mucous neck cell morphology | any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands |
| increased stomach pH | change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion |
| abnormal digestive secretion | anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system |
| increased stomach tumor incidence | greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal chordamesoderm morphology | any structural anomaly of the area of axial mesoderm that develops into the notochord |
| giant platelets | Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). |
| abnormal brain dura mater morphology | any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer |
| increased pancreatic islet cell carcinoma incidence | greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period |
| abnormal vitamin absorption | any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism |
| fused first pharyngeal arch | the first arch fails to fully divide along the midline |
| absent mesenteric lymph nodes | absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group |
| absent popliteal lymph nodes | absence of the lymph nodes which drain the legs |
| abnormal retina bipolar cell morphology | any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells |
| abnormal body size | anomaly in the average body weight, height and/or length of an organism compared to controls |
| abnormal platelet aggregation | any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules |
| increased susceptibility to Orthomyxoviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus |
| decreased cellular sensitivity to methylmethanesulfonate | reduced incidence of cell death following exposure to methylmethanesulfonate |
| increased circulating phosphate level | |
| abnormal mean corpuscular hemoglobin | |
| hyperchromasia | increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin |
| acidemia | |
| hemolysis | |
| metabolic acidosis | A lactic acidosis that has_material_basis_in high levels of acid. |
| enhanced conditioned place preference behavior | increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment |
| increased right ventricle systolic pressure | increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries |
| absent proamniotic cavity | absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds |
| absent visceral endoderm | absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut |
| absent parietal endoderm | absence of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm |
| abnormal T-helper 2 cell differentiation | atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy |
| corneal deposits | accumulation of minerals, proteins, or other anomalous substances on the cornea |
| dilated mitochondrion | the luminal space of one or more mitochondria is increased in volume or area, usually with an increase of contained fluid |
| increased cysteine level | increase in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 |
| abnormal thrombolysis | altered ability to break up (lyse) blood clots that are restricting the blood flow |
| decreased IgG2c level | less than normal immunoglobulin class G2c level |
| decreased interleukin-21 secretion | reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells |
| increased salivation | |
| abnormal sexual maturation | a delay or a block in the development of the sexual organs at a given age |
| abnormal serotonin level | anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity |
| abnormal choroid melanin granule morphology | any structural anomaly of the pigment particles in the choroid |
| decreased tumor growth/size | less than expected development of tumorous growth when compared to controls |
| collapsed brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord are severely reduced in volume or area, possibly due to reduced or absent cerebrospinal fluid production; collapsed ventricles can be a sign of increased intracranial pressure and accumulation of water in the brain parenchyma |
| decreased NK cell number | reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells |
| ascites | Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. |
| decreased sternebra number | reduced average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| abnormal pectoral girdle bone morphology | any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton |
| abnormal memory T cell physiology | any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response |
| absent stapedial artery | absence of the small artery that passes through the ring of the stapes |
| unilateral deafness | A unilateral absence of sensory perception of sound. |
| conductive hearing loss | |
| abnormal CD8-positive, alpha-beta T cell physiology | any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface |
| abnormal hair follicle melanin granule distribution | anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle |
| increased chondrocyte proliferation | increased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population |
| decreased lymph node number | fewer than the normal number of lymph nodes |
| oliguria | Low output of urine, clinically classified as an output below 300-500ml/day. |
| truncated loop of Henle | failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney |
| myocardium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the heart myocardium |
| myocardial trabeculae hypoplasia | underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the heart, usually due to a reduced number of cells |
| abnormal urine calcium level | any change in the amount of calcium in the urine |
| acidosis | Abnormal acid accumulation or depletion of base. |
| abnormal renal transport | any anomaly of the directed movement of substances through the kidney |
| excessive tearing | |
| eyelid edema | an abnormal accumulation of fluid in the eyelid |
| premature chondrocyte differentiation | early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte |
| abnormal hippocampal fimbria morphology | any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure |
| decreased hippocampal fornix size | decreased size of the hippocampal fornix |
| decreased white adipose tissue mass | decreasd physical bulk or volume of white adipose tissue |
| decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| tricuspid valve atresia | congenital closure of the tricuspid valve |
| abnormal dentin morphology | |
| abnormal dental pulp cavity morphology | any structural anomaly of the central space (cavity) of a tooth that is bounded by dentin and contains the dental pulp; the portion of the cavity within the crown of the tooth is the pulp chamber; the portion within the root is the pulp canal or root canal |
| abnormal branching involved in alveolar duct morphogenesis | anomaly in the process in which the branched structure of the alveolar ducts are generated |
| abnormal nephron morphogenesis | any anomaly in the process in which the nephron is generated and organized; the nephron is the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle |
| abnormal S-shaped body morphology | any structural anomaly of the successor of the comma-shaped body that contributes to the morphogenesis of the nephron |
| decreased macrophage nitric oxide production | reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels |
| decreased macrophage cytokine production | reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels |
| increased somite number | increase in the average number of somites formed relative to littermates or other controls |
| abnormal testis physiology | any functional anomaly of the male reproductive glands |
| decreased hematopoietic cell number | fewer than expected number of cells of the hematopoietic lineage |
| abnormal male germ cell physiology | any functional anomaly of male germ cells whether they are undifferentiated or fully differentiated |
| abnormal myeloid leukocyte morphology | any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage |
| decreased circulating ferritin level | reduced concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases |
| decreased susceptibility to Riboviria infection | decrease in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid |
| abnormal mammary gland alveolus morphology | any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy |
| abnormal pulmonary alveolar duct morphology | any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli |
| pulmonary necrosis | morphological changes resulting from pathological death of pulmonary tissue; usually due to irreversible damage |
| pulmonary epithelial necrosis | morphological changes resulting from pathological death of pulmonary epithelial tissue; usually due to irreversible damage |
| pulmonary alveolar edema | an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors |
| abnormal venous thrombosis | any anomaly in the formation or presence of thrombi inside one or more veins, causing the obstruction of blood flow |
| abnormal kidney venous thrombosis | any anomaly in the formation or presence of thrombi inside any kidney venous blood vessel, causing the obstruction of blood flow |
| abnormal marginal zone B cell physiology | abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| abnormal renal glomerular capsule morphology | any structural anomaly of the expanded beginning of a nephron that contains the glomerulus |
| abnormal splenocyte proliferation | anomaly in the ability of a splenocyte cell population to undergo expansion by cell division |
| absent strial intermediate cells | absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential |
| impaired behavioral response to addictive substance | decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| impaired behavioral response to cocaine | decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| abnormal masseter muscle morphology | any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing |
| abnormal temporalis muscle morphology | any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible |
| abnormal lower lip morphology | any structural anomaly of the muscular fold bounding the opening of the mouth inferiorly |
| absent facial muscle | absence of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch |
| narrow face | Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). |
| facial paralysis | |
| facial muscle degeneration | pathological deterioration of facial muscle tissue, often accompanied by loss of function |
| abnormal digastric posterior belly morphology | any structural anomaly of the longer, posterior belly of the digastric muscle arising from the mastoid notch which is on the inferior surface of the skull, medial to the mastoid process of the temporal bone; the posterior belly is supplied by the digastric branch of facial nerve |
| abnormal buccinator muscle morphology | any structural anomaly of the thin quadrilateral muscle occupying the interval between the maxilla and the mandible at the side of the face that forms the anterior part of the cheek or the lateral wall of the oral cavity; it compresses the cheeks against the teeth and is used in acts such as blowing; it is an assistant muscle of mastication and in neonates it is used to suckle |
| abnormal depressor anguli oris muscle morphology | any structural anomaly of the facial muscle that originates from the mandible and inserts into the angle of the mouth; it is innervated by the marginal mandibular branch of the facial nerve and receives its blood supply from the facial artery; the muscle depresses the corners of the mouth which is associated with frowning |
| abnormal zygomaticus muscle morphology | any structural anomaly of the zygomaticus major and/or minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively; these muscles receive their nerve supply on their deep surface from the zygomatic and buccal branches of the facial nerve and lift the corners of the mouth |
| absent levator nasolabialis muscle | missing the flat, thin muscle that lies beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip |
| absent eccrine glands | absence of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans |
| absent guard hair | absence of the long, straight truncal hairs that contain two air cells in the medulla |
| small perianal sebaceous gland | decreased size of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands |
| abnormal Meibomian gland development | aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening |
| abnormal myeloid dendritic cell morphology | any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses |
| decreased myeloid dendritic cell number | reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses |
| increased plasmacytoid dendritic cell number | greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli |
| abnormal dendritic cell number | anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation |
| abnormal follicular dendritic cell morphology | any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response |
| decreased fatty acids level | reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated |
| abnormal sebaceous lipid secretion | abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin |
| decreased white fat cell size | reduction in the size of fat cells with light coloration and few mitochondria |
| abnormal Meibomian gland acinus morphology | any structural anomaly of the sac-like structures comprising the sebaceous glands located at the rim of the eyelids and responsible for producing sebum |
| focal hair loss in head/neck region | focal absence of hair in the head and/or neck region, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body |
| abnormal sebocyte morphology | any structural anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection |
| dry hair | Hair that lacks the lustre (shine or gleam) of normal hair. |
| abnormal olfactory system morphology | any structural anomaly of the organs involved in smell |
| abnormal meiosis | anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell |
| intervertebral disk degeneration | |
| left pulmonary isomerism | anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body |
| ectopic pancreas | |
| delayed axon extension | an increased amount of time required for an axon to extend from a neuron cell body and find the target |
| hypersecretion of corticosterone | increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion |
| increased circulating pituitary hormone level | greater than expected concentration of any of the pituitary hormones in the blood |
| catalepsy | a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions |
| abnormal adrenal gland zona reticularis morphology | any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids |
| abnormal melanotroph morphology | any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) |
| increased lactotroph cell number | greater number of an acidophilic cell of the anterior pituitary that produces prolactin |
| decreased lactotroph cell size | reduced growth or small size of an acidophilic cell of the anterior pituitary that produces prolactin |
| abnormal estrus | any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances |
| abnormal cardiac neural crest cell migration | any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia |
| abnormal ventral striatum morphology | any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure |
| decreased palatal length | reduction in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge |
| tongue ankylosis | |
| abnormal nasal gland morphology | any structural anomaly of any of the seromucous glands found in the respiratory region of the nasal mucous membrane, including anterior serous glands, seromucous glands, and Bowman glands |
| abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those described for the major serous salivary glands; secretory contents of the LNG drain into the nasal vestibule; the LNG is a major site for the synthesis and secretion of odorant-binding proteins that serve as odorant carriers in nasal mucus; it also, synthesizes large amounts of immunoglobulin A, which is important for immune defense of the upper respiratory tract, and testosterone and salivary androgen-binding proteins, which are likely important in olfaction and reproductive behavior |
| absent palatal rugae | absence of the transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| abnormal palatal mesenchymal cell proliferation | any anomaly in the ability of the cranial neural crest derived mesenchymal cells located in the palate to undergo expansion by cell division |
| abnormal intestinal lipid absorption | any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine |
| decreased circulating glucagon level | reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes |
| decreased circulating interleukin-1 level | reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens |
| absent nodose ganglion | absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) |
| absent petrosal ganglion | absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve |
| thyroid gland hypoplasia | decrease in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in decreased size |
| presphenoid bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult |
| absent inner ear | absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea |
| absent auditory tube | absence of the tube connecting the tympanic cavity and the nasopharynx |
| absent esophagus | absence of the part of the digestive canal through which food passes from the pharynx to the stomach |
| small trachea | reduced size of the tube descending from the larynx and branching into the right and left main bronchi |
| small pharynx | reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus |
| fusion of basioccipital and basisphenoid bone | union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities) |
| absent mandibular condyloid process | absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint |
| hyoid bone hypoplasia | underdevelopment of the hyoid bone, usually due to a deficiency in the number of cells |
| absent pulmonary trunk | absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery |
| abnormal brachiocephalic trunk morphology | any structural anomaly of the short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery |
| absent arcus anterior | absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis |
| short zygomatic arch | decreased length of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone |
| thyroid cartilage hypoplasia | decrease in the number of normal cells in normal arrangement in the thyroid cartilage, typically resulting in decreased size |
| cricoid cartilage hypoplasia | decrease in the number of normal cells in normal arrangement in the cricoid cartilage, typically resulting in decreased size |
| abnormal Purkinje fiber morphology | any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle |
| ventricular tachycardia | |
| ventricular premature beat | a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur |
| sinoatrial block | Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. |
| abnormal eyelid fusion | anomaly in the process by which the upper and lower eyelids are joined during development |
| abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| enlarged tail bud | increased size or area of the primordial region of the embryo that arises to form the tail of the adult |
| increased renal plasma flow rate | greater than the normal volume of plasma passing through the kidney per unit time |
| absent palatal shelf | absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate |
| short facial bone | length reduction or truncation of one or more facial bones |
| decreased autopod size | reduced size of the distal elements of the limb of vertebrates |
| abnormal posterior eye segment morphology | any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) |
| abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the external border of the iris, and together with the folds (plicae) in the furrows between them, constitute the corona ciliaris; ciliary processes produce aqueous humor |
| increased blood uric acid level | |
| increased kidney glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in kidney |
| abnormal prenatal growth/weight/body size | limited or accelerated growth or development apparent before birth |
| abnormal platelet alpha-granule morphology | any structural anomaly of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis |
| subcutaneous hemorrhage | This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). |
| abnormal uterine receptivity | any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation |
| abnormal embryo apposition | any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall |
| abnormal blood-brain barrier function | anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood |
| abnormal corneocyte envelope morphology | any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix |
| decreased liver copper level | a reduced amount of copper in the liver tissue compared to controls |
| positive geotaxis | mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward |
| anotia | Complete absence of any auricular structures. |
| fusion of middle ear ossicles | Bony fusion of malleus, incus, and stapes. |
| absent vestibular ganglion | absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus |
| increased otic epithelial cell apoptosis | increase in the number of otic epithelial cells undergoing programmed cell death |
| abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| decreased palatine bone horizontal plate size | reduced size of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate |
| decreased maxillary shelf size | reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| abnormal hyoid bone lesser horn morphology | any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone |
| absent thyroid gland isthmus | absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland |
| abnormal first pharyngeal pouch morphology | any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity |
| persistent ultimobranchial bodies | partial or complete failure of the ultimobranchial bodies to fuse with the ventral thyroid primordium; as a result, ultimobranchial bodies remain as unilateral or bilateral vesicles composed exclusively of calcitonin-producing cells |
| preauricular pit | Small indentation anterior to the insertion of the ear. |
| absent tympanic cavity | absence of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves |
| absent auditory bulla | absence of the hollow bony structure normally found on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone |
| large nasal septum | increased size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils |
| absent vagina | absence of the female reproductive canal located between the uterus and the vulva |
| abnormal optic tract morphology | any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region |
| short scala media | reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani |
| Mullerian duct degeneration | a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina |
| rudimentary Wolffian ducts | not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male |
| rudimentary Mullerian ducts | not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina |
| absent uterine horn | absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet |
| absent optic chiasm | absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves |
| abnormal intermediate mesoderm morphology | any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord |
| abnormal mesonephric mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros |
| absent metanephros | absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord |
| growth retardation of incisors | developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw |
| abnormal thymus corticomedullary boundary morphology | any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells |
| abnormal axon pruning | defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism |
| abnormal respiratory mechanics | anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration |
| abnormal cranial suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head |
| absence of all nails | absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| decreased eye anterior chamber depth | reduced distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls |
| increased urinary bladder weight | greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls |
| argininuria | A increased concentration of arginine in the urine. |
| ornithinuria | An increased concentration of ornithine in the urine. |
| lysinuria | excretion of excessive amounts of lysine in the urine |
| hyperglutaminuria | excretion of excessive amounts of glutamine in the urine |
| metacarpal bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| absent triquetrum | missing the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones |
| abnormal lipolysis | anomaly in the process of the hydrolysis of fat into free fatty acids |
| increased pancreatic beta cell mass | greater total physical bulk or volume of a pancreatic beta cell compared to the normal state |
| abnormal white fat cell morphology | any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole |
| decreased circulating adiponectin level | less than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue |
| impaired branching involved in respiratory bronchiole morphogenesis | partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated |
| abnormal mesenchymal cell differentiation involved in lung development | abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung |
| absent dorsal root ganglion | absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column |
| abnormal neural crest cell physiology | any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types |
| absent podocyte slit diaphragm | absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream |
| absent glomerular endothelium fenestra | absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria |
| abnormal behavioral response to xenobiotic | any anomaly in the behavioral response induced by a foreign compound, such as consumption preference, induced hyperactivity or stereotypic behavior |
| abnormal frequency of paradoxical sleep | abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| abnormal somatotroph morphology | any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin |
| absent somatotroph secretory granules | absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface |
| abnormal surfactant physiology | anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli |
| absent alveolar lamellar bodies | absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant |
| decreased neuronal precursor proliferation | reduction in the ability of a neuroblast population to undergo rapid expansion by cell division |
| fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| increased cardiac cell glucose uptake | increased ability of the cells of the heart to take in glucose |
| abnormal urine amino acid level | any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group |
| abnormal GABAergic neuron morphology | any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter |
| abnormal synaptic bouton morphology | any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters |
| decreased mortality induced by ionizing radiation | reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays |
| decreased cellular sensitivity to X-ray irradiation | decreased incidence of cell death following exposure to X-ray irradiation |
| decreased triiodothyronine level | reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| clavicle hypoplasia | |
| delayed fontanelle closure | late onset of closure of one or more of the membranous intervals at the margins of cranial bones |
| renal glomerulus fibrosis | formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process |
| lacrimal gland hypertrophy | increase in the bulk size of any of the paired glands that secrete the aqueous layer of the tear film due to cell enlargement |
| abnormal umami taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system |
| increased circulating von Willebrand factor level | elevated blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall |
| focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| abnormal macrophage antigen presentation | anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes |
| decreased inner hair cell stereocilia number | decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells |
| absent vestibular hair bundle shaft connectors | absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles |
| decreased skeletal muscle fiber size | decrease in the size of the large multinucleated cells that make up the skeletal muscles |
| abnormal atrioventricular septum morphology | any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve |
| mandibular cyst | presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the mandible |
| abnormal mean corpuscular volume | deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices |
| abnormal renal filtration rate | altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time |
| salt-resistant hypertension | sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet |
| abnormal intestinal secretion | any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine |
| increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen |
| increased fatty acid beta-oxidation | increased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) |
| advanced circadian behavior phase | increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) |
| abnormal circardian behavior entrainment | anomaly in the synchronization of a circadian behavior to environmental time cues such as light |
| loss of glutamate neurons | loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event |
| decreased left ventricle developed pressure | decrease in the difference between left ventricular systolic and diastolic pressures |
| decreased cerebral cortex pyramidal cell number | reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex |
| tail dragging | pulling the tail along with difficulty or effort; may be due to paralysis or weakness |
| abnormal coronal suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone |
| abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| decreased embryonic cilium length | reduced length of the cilia of the mouse embryo found on the cells of the embryonic node |
| increased pancreatic delta cell number | increased number of the cells found in the pancreas that secrete somatostatin |
| abnormal sarcoplasmic reticulum morphology | any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere |
| increased urine sodium level | higher than normal amount of sodium in the urine |
| increased urine osmolality | increase in the amount of ions in the urine compared to the normal state |
| increased urine chloride ion level | |
| increased urine urea nitrogen level | abnormally high amounts of nitrogen in the form of urea in the urine |
| increased urine creatinine level | an increased amount of creatinine in the urine compared to the normal state |
| abnormal odor adaptation | altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel |
| peripheral nervous system degeneration | a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord |
| muscle hypertonia | |
| type I spiral ligament fibrocyte degeneration | degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis |
| type III spiral ligament fibrocyte degeneration | degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule |
| spinal cord degeneration | a retrogressive impairment of function or destruction of the spinal cord |
| decreased susceptibility to dystrophic cardiac calcinosis | less likely to be stricken by dystrophic cardiac calcinosis |
| abnormal ectoplacental cavity morphology | any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity |
| decreased cardiomyocyte apoptosis | decrease in the number of cardiac muscle cells undergoing programmed cell death |
| abnormal macrophage derived foam cell morphology | any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions |
| increased spleen germinal center size | greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs |
| abnormal circulating cytokine level | deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells |
| abnormal somatic motor system morphology | any structural anomaly of the neural tissue involved in the transmission of motor signals |
| abnormal venule morphology | any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins |
| impaired spatial learning | impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| premaxilla hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla |
| absent thymus cortex | lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes |
| thymus cyst | presence of one or more fluid-filled spaces lined by epithelium within the thymus |
| increased circulating interleukin-10 level | increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation |
| increased subcutaneous adipose tissue amount | increase in amount of adipose tissue beneath the skin |
| abnormal T-helper 2 cell morphology | any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy |
| abnormal cell nucleus count | absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis |
| binucleate | two nuclei present per cell body when one is expected; often due to failed cytokinesis |
| abnormal mitotic spindle morphology | any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis |
| increased mesenteric fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the mesentery |
| abnormal ascending aorta morphology | any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise |
| venoocclusion | blockage of blood flow through one or more veins |
| atrioventricular cushion hypoplasia | decrease in the number of normal cells in normal arrangement in the atrioventricular cushion, typically resulting in decreased size |
| decreased susceptibility to induced muscular atrophy | less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) |
| abnormal NK cell morphology | |
| increased foot pad pigmentation | darker color of the foot pads due to excess pigment |
| darkened coat color | amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti |
| abnormal sperm number | increased or decreased numbers of spermatozoa |
| abnormal epidermal pigmentation | anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment |
| thin vestibular hair cell stereocilia | reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern |
| thin cochlear hair cell stereocilia | reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells |
| increased susceptibility to prion infection | increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component |
| increased thyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period |
| increased liver adenocarcinoma incidence | greater than the expected number of a malignant neoplasm of epithelial cells in the liver, occurring in a specific population in a given time period |
| increased Leydig cell tumor incidence | greater than the expected number of rare testicular tumors of the male gonadal interstitium, occurring in a specific population in a given time period; Leydig cell tumors are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur |
| abnormal arteriole morphology | any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries |
| hyperekplexia | |
| abnormal miniature inhibitory postsynaptic currents | defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse |
| abnormal embryonic tissue physiology | any functional anomaly in any of the tissues of the embryo proper |
| abnormal adrenaline level | aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| cochlear degeneration | Degeneration of the cochlea. |
| abnormal spiral ligament morphology | any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches |
| abnormal spiral ligament fibrocyte morphology | any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament |
| abnormal type I spiral ligament fibrocytes | any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis |
| type II spiral ligament fibrocyte degeneration | degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence |
| type IV spiral ligament fibrocyte degeneration | degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest |
| abnormal drinking behavior | Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. |
| abnormal trabecular meshwork morphology | any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates |
| ocular hypertension | |
| decreased circulating antidiuretic hormone level | less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle |
| decreased blood osmolality | decrease in the concentration of ions in the blood compared to the normal state |
| hyposulfatemia | abnormally low concentration of sulfate in the circulating blood |
| increased urine sulfate level | an increase in amount of sulfates in the urine |
| increased percent water in carcass | more than the normal total amount of water retained in the body measured post mortem |
| decreased inguinal fat pad weight | less than average weight of the encapsulated adipose tissue found in the groin |
| decreased retroperitoneal fat pad weight | less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum |
| decreased mitochondrial number | |
| abnormal lymph node primary follicle morphology | any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex |
| abnormal heart size | change from normal in the physical magnitude of the cardiac muscle or any of its component structures |
| increased trophectoderm apoptosis | increase in the number of trophectoderm cells undergoing programmed cell death |
| trophectoderm cell degeneration | a retrogressive impairment of function or destruction of trophectoderm cells |
| absent ectoplacental cone | missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta |
| abnormal polar trophectoderm morphology | any structural anomaly of the trophectoderm portion that surrounds the inner cell mass (ICM); unlike mural trophectoderm cells which stop proliferating and become large polyploid cells (the primary trophoblastic giant cells) by endoreduplication, polar trophectoderm cells remain diploid, continue to proliferate and give rise to both the ectoplacental cone and the extraembryonic ectoderm |
| lipodystrophy | |
| enlarged heart atrium | increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation |
| increased follicular lymphoma incidence | higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large |
| increased plasmacytoma incidence | greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period |
| impaired autophagy | impairment of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery |
| abnormal piliary canal morphology | any structural anomaly of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft |
| enlarged corneocyte envelope | increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis |
| abnormal stratum corneum lipid matrix formation | altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae |
| impaired stratum corneum desquamation | dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions |
| abnormal blood volume | any anomaly in the amount of space occupied by the blood in the vessels |
| absent sacral vertebrae | absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae |
| small premaxilla | reduced size of the anterior and interior portion of the maxilla |
| abnormal anal canal morphology | any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters |
| abnormal maxillary prominence morphology | any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw |
| genital tubercle hypoplasia | underdevelopment or reduced size of the embryonic anlage of the external genitalia, usually due to a reduced number of cells |
| abnormal face development | any anomaly in the process in which the anatomical structures of the face are generated and organized |
| degranulated pancreatic beta cells | insulin-secreting cells of the pancreas do not contain vesicles containing insulin |
| decreased activated sperm motility | loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility |
| abnormal sperm end piece morphology | any structural anomaly in the short remaining region of the sperm flagellum, which contains only the axoneme surrounded by the plasma membrane |
| abnormal respiratory mucosa morphology | any structural anomaly of the mucous membrane lining the respiratory tract |
| absent vertebral arch | loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) |
| pancreas necrosis | morphological changes resulting from pathological death of pancreas tissue; usually due to irreversible damage |
| abnormal complement protein level | deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| decreased oligodendrocyte number | reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS |
| decreased vocalization | decrease in the production of vocal sound |
| decreased urine pH | increased urine acidity |
| abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction |
| abnormal neuroendocrine gland morphology | any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli |
| increased body mass index | greater than normal average of a measure of weight for height |
| increased brain tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period |
| abnormal stapes crus morpholgy | any structural anomaly of either of the two (anterior and posterior) limbs of the stapes that pass from the head to the base or footplate; in mice, the anterior crus is curved and the posterior crus is more straight whereas in humans, the anterior crus is more straight than the posterior crus |
| improved righting response | faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position |
| increased macrophage derived foam cell number | greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions |
| sphingomyelinosis | |
| decreased liver cholesterol level | less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| increased brain cholesterol level | greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues |
| increased microglial cell activation | increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form |
| macrophthalmia | increased average size of the eyes |
| abnormal Descemet membrane morphology | |
| cornea ulcer | |
| abnormal cell cytoskeleton morphology | any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm |
| decreased tail pigmentation | visually detectable dilution of pigment present on the tail surface |
| increased circulating phytosterol level | increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol |
| decreased cholesterol efflux | reduced level of removal of excess cholesterol from cells by an active transport pathway |
| abnormal testosterone level | An anomalous concentration of testosterone in the blood. |
| decreased circulating phytosterol level | decrease in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol |
| optic disk coloboma | congenital defect of the optic disk in which some part of the structure is absent |
| decreased body mass index | less than normal average of a measure of weight for height |
| abnormal cardiac output | anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate) |
| yellow coat color | amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair |
| small first pharyngeal arch | reduced size of the first branchial arch |
| abnormal carotid body physiology | any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control |
| fused right lung lobes | complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development |
| abnormal CD4-positive, alpha-beta intraepithelial T cell morphology | any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| absent lymphatic vessels | absence of the network of vessels which carries lymph around the body |
| lymphatic vessel hypoplasia | decrease in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in decreased size |
| abnormal primary somatosensory cortex morphology | any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation |
| abnormal anterior commissure pars anterior morphology | any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs |
| abnormal liver parenchyma morphology | |
| methylmalonic aciduria | |
| increased uterus leiomyoma incidence | greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period |
| increased duodenum adenocarcinoma incidence | |
| increased neuroblastoma incidence | greater than the expected number of a malignant neoplasm characterized by immature nerve cells of embryonic type, occurring in a specific population in a given time period |
| increased urinary bladder transitional cell carcinoma incidence | greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period |
| abnormal mesenteric fat pad morphology | any structural anomaly of the encapsulated adipose tissue associated with the mesentery |
| decreased susceptibility to parasitic infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites |
| increased circulating interleukin-12 level | increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells |
| spongiform encephalopathy | |
| abnormal sphingolipid level | |
| abnormal floor plate morphology | any structural anomaly of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube |
| enlarged uterus | |
| abnormal respiratory sounds | any anomaly in the noises heard over any part of the respiratory tract |
| increased salivary gland mucosal cell number | greater than normal number of cells that form mucus in the salivary glands |
| decreased ductal branching in the palatine gland | fewer branches and distal tips of the vesicles of the palatine gland |
| prostate gland lateral lobe hypoplasia | decrease in the number of normal cells in normal arrangement in the prostate gland lateral lobe, typically resulting in decreased size |
| small prostate gland ventral lobe | reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck |
| synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| abnormal hippocampal fornix morphology | any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body |
| encephalomeningocele | |
| absent pineal gland | absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms |
| decreased visual acuity | loss of visual acuity or ability to distinguish small details |
| abnormal optic disk morphology | any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
| abnormal passive avoidance behavior | anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency |
| vitreal fibroplasia | production of excess fibrous tissue in the vitreous body of the eye |
| obstructive hydrocephaly | |
| decreased superior colliculus size | decreased size of the paired superior eminence of the mesencephalic tectum |
| abnormal tectum morphology | any structural anomaly of the rostral part of the midbrain roof |
| podocyte microvillus transformation | aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury |
| abnormal circulating insulin-like growth factor I level | anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities |
| aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| heart right ventricle aneurysm | thinning, stretching and bulging of a weakened heart right ventricular wall |
| thin hair shaft | the average diameter of coat hair is less than the average diameter of hair from normal individuals |
| abnormal granulocyte physiology | any functional anomaly of neutrophils, eosinophils, or basophils |
| midbrain atrophy | acquired diminution of the size of the midbrain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| absent vestibulocochlear ganglion | absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia |
| abnormal NK T cell physiology | any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| failure of conotruncal ridge closure | failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum |
| abnormal aorticopulmonary septum morphology | any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta |
| cup-shaped ears | deeply concave appearance to the outer ear |
| absent glossopharyngeal nerve | absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion |
| prenatal growth retardation | slow or limited development during the prenatal period |
| abnormal upper lip morphology | any structural anomaly of the muscular fold forming the superior border of the mouth |
| first pharyngeal arch hypoplasia | decrease in the number of normal cells in normal arrangement in the first pharyngeal arch, typically resulting in decreased size |
| absent nasal pit | absence of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the frontonasal process and divide it into a medial and two lateral nasal processes |
| tympanic ring hypoplasia | decrease in the number of normal cells in normal arrangement in the tympanic ring, typically resulting in decreased size |
| middle ear ossicle hypoplasia | decrease in the number of normal cells in normal arrangement in the middle ear ossicle, typically resulting in decreased size |
| zygomatic arch hypoplasia | decrease in the number of normal cells in normal arrangement in the zygomatic arch, typically resulting in decreased size |
| facial bone hypoplasia | decrease in the number of normal cells in normal arrangement in a facial bone, typically resulting in decreased size |
| abnormal synaptic vesicle morphology | any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents |
| abnormal zinc homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins |
| decreased brain zinc level | reduction in the amount of zinc present in the brain tissue |
| decreased circulating parathyroid hormone level | reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body |
| absent Meibomian glands | missing meibomian glands |
| absent zigzag hairs | absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla |
| decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| decreased taurine level | reduction in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism |
| decreased circulating taurine level | reduction in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine |
| pharyngeal arch artery stenosis | diffuse constriction or narrowing of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| increased pancreatic alpha cell mass | greater total physical bulk or volume of a pancreatic alpha cell compared to the normal state |
| abnormal muscle cell glucose uptake | anomaly in the ability of muscle cells to take in glucose |
| abnormal adrenergic chromaffin cell morphology | any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion |
| abnormal adrenocortical cell morphology | any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland |
| increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| absent secondary ovarian follicles | absence of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra |
| abnormal liquid preference | the desire to drink more or less fluids than average, or to drink unusual fluids |
| abnormal food preference | the desire to eat more or less food than average, or to eat unusual foods |
| abnormal fatty acid oxidation | anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. |
| organic aciduria | |
| ethylmalonic aciduria | An increased concentration of ethylmalonic acid in the urine. |
| decreased circulating glycine level | reduction in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain |
| enhanced coordination | improved ability to execute integrated movements of muscle |
| abnormal urine organic anion level | any change in the amount of organic anions in the urine |
| abnormal corpus epididymis morphology | any structural anomaly of the body of the epididymis |
| abnormal circulating insulin level | any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids |
| increased glucagonoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon |
| abnormal pancreatic alpha cell differentiation | atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors |
| increased pancreatic beta cell proliferation | increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division |
| abnormal exocrine gland morphology | any structural anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas |
| decreased susceptibility to age-related hepatic steatosis | less likely than normal to develop hepatic steatosis that is progressive with age |
| decreased enterocyte cell number | fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen |
| enlarged adenohypophysis | increased size of the anterior part of the pituitary that secretes a variety of hormones |
| abnormal thyroid follicular cell morphology | any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor |
| delayed CNS synapse formation | increase in time required to complete the process of generating connections between an axon and effector tissue or neuron |
| absent strial marginal cells | absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph |
| abnormal organ of Corti supporting cell differentiation | atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti |
| small scala media | reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani |
| vascular smooth muscle hyperplasia | increase in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in increased size |
| exocrine pancreas hypoplasia | underdevelopment or reduced size of the portion of the pancreas that secretes digestive enzymes, usually due to a decreased cell number |
| abnormal hair cycle telogen phase | anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss |
| common truncal valve | a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects |
| abnormal blood pH regulation | anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion |
| dilated efferent ductule of testis | an expansion in the volume or area of the lumen of one or more of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid |
| increased pancreatic islet number | increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| increased growth hormone level | greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization |
| abnormal percent body fat/body weight | more or less fat, relative to controls, expressed as a percentage of total body weight |
| increased pituitary hormone level | greater than the expected amount of any of the pituitary hormones in the blood or tissues |
| decreased circulating gastrin level | reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters |
| abnormal linear vestibular evoked potential | anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear |
| thick epidermis stratum granulosum | increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis |
| abnormal milk zinc level | any anomaly in the concentration of zinc in milk |
| abnormal kindling response | any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy |
| abnormal synaptic glutamate release | aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors |
| increased susceptibility to ototoxicity-induced hearing loss | greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process |
| hippocampus pyramidal cell degeneration | a retrogressive impairment or destruction of a multipolar projection neuron in the hippocampus pyramidal cell layer |
| abnormal mitotic spindle assembly checkpoint | an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules |
| telangiectases | vascular lesion formed by dilation of a group of small blood vessels |
| dilated pharyngeal arch artery | stretched or widened aperture of the luminal space of one or more of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| abnormal renal phosphate reabsorption | any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream |
| abnormal hepatoblast morphology | any structural anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes |
| abnormal brain size | deviation from the average range of brain size for an organism |
| abnormal brain iron level | any anomaly in the amount of iron present in the brain tissue |
| increased uterus weight | increase in the weight of the female organ of gestation |
| abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| abnormal spinal cord ependymal layer morphology | any structural anomaly of the cellular membrane that lines the central canal of the spinal cord |
| increased small lymphocytic lymphoma incidence | higher than normal incidence of lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes |
| increased oligodendrocyte number | greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS |
| dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| increased skeletal muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle |
| increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| abnormal ultimobranchial body morphology | any structural anomaly of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth |
| abnormal fourth pharyngeal arch morphology | any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus |
| abnormal hyoid bone greater horn morphology | any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone |
| abnormal epiglottis morphology | any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink |
| bicuspid pulmonary valve | The presence of a bicuspid pulmonary valve. |
| aorta hypoplasia | underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number |
| larynx stenosis | |
| abnormal thyroid gland isthmus morphology | any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct |
| short soft palate | reduced length of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult |
| uterus prolapse | downward movement, and possible external appearance, of the uterus through the vagina |
| abnormal cutaneous elastic fiber morphology | any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity |
| abnormal male germ cell apoptosis | presence of male germs cells that undergo programmed cell death |
| small melanosome | less than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored |
| absent trophectoderm cell proliferation | |
| testis inflammation | |
| decreased brown fat cell size | reduction in the size of fat cells from the thermogenic form of adipose tissue |
| parathyroid hypoplasia | Developmental hypoplasia of the parathyroid gland. |
| abnormal Harderian gland pigmentation | any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment |
| alisphenoid bone hypoplasia | underdevelopment or reduced size in either of the broad curved wing like expanses on each side of the sphenoid bone in adults, usually due to reduced cell number; this bone may exist independently in the young |
| abnormal epidermal melanocyte morphology | any structural anomaly of the cells that produce pigment in the epidermis |
| abnormal choroid melanocyte morphology | any structural anomaly of the cells that produce pigment in the choroid |
| absent sublingual duct | absence of the canals that drain the sublingual gland |
| persistent cervical thymus | the solid lobe of the thymus fails to descend to the mediastinum |
| temporal bone squamous part hypoplasia | decrease in the number of normal cells in normal arrangement in the temporal bone squamous part, typically resulting in decreased size |
| abnormal sixth pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis |
| persistent right 6th pharyngeal arch artery | failure of right 6th pharyngeal arch artery regression |
| persistent ductus caroticus | uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side |
| increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| increased circulating alanine level | increase in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 |
| increased renin activity | greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I |
| abnormal second pharyngeal arch artery morphology | any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis |
| trunk curl | posture of the trunk in a curled position |
| increased tumor latency | later onset of tumor occurrence than expected |
| abnormal susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| absent ultimobranchial body | absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth |
| short ureter | reduced length of the tube that conducts the urine from the renal pelvis to the bladder |
| increased midbrain size | greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes |
| abnormal pancreas secretion | anomaly in the production and/or release of biologically active substances from pancreatic tissue |
| pituitary gland hypoplasia | |
| abnormal supraoptic nucleus morphology | any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin |
| absent magnocellular neurosecretory cells | absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin |
| abnormal nociceptor morphology | any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli |
| abnormal sebaceous gland physiology | any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts |
| abnormal mineral level | any anomaly in the concentration of any inorganic substance that has importance in body functions |
| ecchymosis | |
| decreased circulating magnesium level | |
| alcohol preference | predilection to ingest alcohol over other substances |
| abnormal renal sodium ion transport | any anomaly in the directed movement of sodium ions (Na+) by the kidney |
| bile duct hyperplasia | |
| thick diaphragm muscle | increased thickness of the diaphragm muscle |
| coronary artery spasm | disease cluster belonging to disease group cardiovascular |
| duodenal lesions | focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue |
| absent placenta | absence of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin |
| abnormal circulating ketone body level | aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus |
| decreased keratohyalin granule number | reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| dilated seminal vesicle | an expansion in the lumen volume of one or both of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system, as by stretching or distention |
| abnormal seminal vesicle epithelium morphology | any structural anomaly of the pseudostratified columnar epithelium that lines the seminal vesicles and consists of tall, non-ciliated columnar cells and short, rounded basal cells that rest on the basal lamina; polarized columnar cells show features typical of secretory epithelium, including a well-developed Golgi complex, abundant rough endoplasmic reticulum, numerous mitochondria, and apical secretory vesicles; basal cells are the stem cells from which the columnar cells are derived |
| abnormal seminal vesicle fluid composition | any alteration in the expected chemical makeup or appearance of the whitish yellow alkaline fluid secreted by the seminal vesicles that constitutes 60-70 percent of the ejaculate in humans; the secretory product of the columnar epithelial cell, which may be seen in the lumen of seminal vesicles, is strongly acidophilic; it contains large amounts of fructose (used by spermatozoa as an energy source for motility) in addition to water, K+ ions, phosphorylcholine, prostaglandins, flavins, citrate, ascorbic acid, and several amino acids and enzymes; seminal vesicle fluid is responsible for coagulation of the ejaculate, can alter sperm motility and capacitation, and acts as an immunosuppressant in the female reproductive tract |
| abnormal copulatory plug biosynthesis | any anomaly in the reactions and pathways involved in the formation of a copulatory plug; typically, plugs are formed by coagulation of ejaculated proteins to form a solid mass within the female reproductive tract |
| decreased skeletal muscle triglyceride level | less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue |
| abnormal scala tympani morphology | any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina |
| ear inflammation | local accumulation of fluid, plasma proteins and leukocytes in the ear |
| abnormal afterhyperpolarization | anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration |
| delayed gastrulation | late onset of the development and invagination of the embryonic germ layers |
| abnormal hair cell physiology | any functional anomaly of the sensory epithelial cells of the inner ear |
| abnormal blood-inner ear barrier function | anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier |
| abnormal cochlear endolymph ionic homeostasis | anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content |
| abnormal nephron morphology | any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle |
| pelvic kidney | A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. |
| plush coat | coat has a thick, velvet-like appearance |
| hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| decreased body surface temperature | reduced degree of heat natural to skin-environment interface of a living being |
| tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| abnormal synaptic acetylcholine release | aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system |
| increased mammary gland epithelial cell proliferation | increase in the expansion rate of the cells of the mammary gland epithelium by cell division |
| epidermal atrophy | acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal brown fat cell morphology | any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria |
| absent pancreatic delta cells | absence of the cells found in the pancreas that secrete somatostatin |
| retina rod cell degeneration | a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane |
| polysyndactyly | Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. |
| abnormal Reichert's cartilage morphology | any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament |
| absent Reichert cartilage | absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone |
| abnormal autopod muscle morphology | any structural anomaly of the muscles of the autopod region |
| decreased susceptibility to induced colitis | decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) |
| abnormal blood pressure regulation | any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure |
| abnormal systemic arterial blood pressure regulation | anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system |
| abnormal synaptic neurotransmitter level | anomaly in the amount of endogenous signaling molecules in a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell |
| increased aspartic acid level | increase in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate |
| abnormal serous gland morphology | any structural anomaly of glands that secrete watery albuminous material that often contains enzymes |
| platyspondylia | |
| abnormal forelimb stylopod morphology | any structural anomaly of the proximal element of the forelimb including the humerus |
| abnormal forelimb zeugopod morphology | any structural anomaly of the distal elements of the forelimb including the radius and ulna |
| small sacral vertebrae | reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae |
| delayed chondrocyte differentiation | delay in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte |
| absent mature gamma-delta T cells | absence of a mature T cell expressing an gamma-delta T cell receptor complex |
| decreased diastolic filling velocity | reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders |
| abnormal skeletal muscle triglyceride level | any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue |
| behavioral arrest | locomotor activity is interrupted by sudden periods of no movement |
| abnormal vitamin A metabolism | altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet |
| hemimelia | Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. |
| abnormal stapes head morphology | any structural anomaly of the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint |
| syndromic hearing loss | a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| abnormal incus long process morphology | any structural anomaly of the long limb (crus) of the incus; at the tip of the long crus there is a small knob, the lenticular process, that articulates with the head of the stapes |
| absent incus lenticular process | missing the ovoid end of the incus that articulates with the head of the stapes; normally, it is attached to the long process by a thin strut or pedicle |
| abnormal internal carotid artery morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes |
| kidney papillary atrophy | acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal kidney outer medulla inner stripe morphology | any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle |
| decreased cell migration | reduced or slower movement of cells from one site to another, often occurring during developmental or chemotactic processes |
| increased susceptibility to Retroviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus |
| abnormal pituitary diverticulum morphology | any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis |
| decreased cervical vertebrae number | reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull |
| heart right ventricle degeneration | replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat |
| absent cardiogenic plate | absence of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; normally, angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube |
| artery stenosis | |
| epidermal desquamation | shedding of the cuticle of the epidermis in scales or shreds |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| poor arterial differentiation | failure of or inadequate acquisition of the characteristics and/or functions of the arteries |
| hair follicle comedo | a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil) |
| abnormal snout skin morphology | any anomaly in a zone of skin that is part of the snout |
| dilated hair follicle infundibulum | the luminal space of the hair follicle infundibulum is increased in volume or area, sometimes with an increase of contained fluid or sebum |
| abnormal hair follicle outer root sheath morphology | any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb |
| decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| abnormal oxidative phosphorylation | any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis |
| lethality during fetal growth through weaning, complete penetrance | death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) |
| true hermaphroditism | The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. |
| uveitis | |
| facial muscle spasm | sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching |
| abnormal olfactory bulb interneuron morphology | any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons |
| abnormal olfactory bulb tufted cell morphology | any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala |
| abnormal circulating corticosterone level | anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion |
| decreased amacrine cell number | reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina |
| abnormal retina development | anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain |
| abnormal bile color | any change in the color of the bile from the normal yellowish brown or green |
| phototoxicity | condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance |
| porphyria | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| abnormal alcohol consumption | aberrant behavioral-related or physiological-related intake of alcohol into the body |
| hyperactivity elicited by ethanol administration | increased activity after ingestion of alcohol |
| abnormal red nucleus morphology | any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination |
| abnormal atrioventricular node morphology | any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node |
| abnormal impulse conducting system morphology | any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart |
| abnormal circulating estradiol level | aberration in the blood concentration of this most potent estrogen |
| abnormal adrenocorticotropin level | anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex |
| abnormal uterine artery morphology | any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina |
| decreased adiponectin level | reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue |
| embryonic epiblast cell degeneration | a retrogressive impairment of function or destruction of the cells comprising the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion |
| abnormal periodontal ligament morphology | any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket |
| increased osteoid volume | increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts |
| abnormal bone mineralization involved in bone maturation | anomaly in the deposition of calcium phosphate in bone tissue, involved in the progression of the developing skeleton from its formation to its mature state |
| abnormal periodontium morphology | any structural anomaly of the specialized tissues that both surround and support the teeth, maintaining them in the maxillary and mandibular bones; it consists of four principal components: the gums (gingiva), periodontal ligament, cementum, and alveolar bone proper |
| abnormal cementum mineralization | anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the initial acellular cementum |
| abnormal osteocyte lacuna morphology | any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals |
| abnormal osteocyte lacunocanalicular system morphology | any structural anomaly of the large network intercommunicating the lacunae and canaliculi which contain the osteocytes and their cytoplasmic processes within the mineralized bone matrix |
| abnormal osteocyte canaliculus morphology | any structural anomaly of the slender canals situated between the lacunae of ossified bone where osteocyte cytoplasmic (dendritic) processes reside; osteocyte canaliculi are used for exchange of nutrients and waste products through gap junctions |
| misaligned teeth | abnormal alignment, positioning, or spacing of the teeth |
| abnormal acellular cementum morphology | any structural anomaly of the acellular layer of cementum, a living tissue that does not incorporate cells (cementocytes) into its structure, consisting only of extracellular matrix components and mineral; acellular cementum is the first cementum deposited on the dentin of the forming root, and is predominantly found on the cervical/coronal portion of the tooth root; it anchors the primary collagen fibers of the periodontal ligament, providing a strong attachment between the tooth and surrounding alveolar bone |
| abnormal cellular cementum morphology | any structural anomaly of the layer of cementum that contains cementocytes in lacunae; it is most abundant on the apical portion of the tooth root and in the furcation areas of multirooted teeth, and has a role in posteruptive adjustment of tooth position |
| abnormal cementocyte lacunocanalicular system morphology | any structural anomaly of the osteocyte-like network of lacunae and canaliculi housing the cementocytes and their cytoplasmic processes within the cellular cementum; although cementocytes resemble osteocytes, they show profound differences in terms of dendrite number, lacunar shape, and canalicular network density, suggesting less communication between, to, and from cementocytes compared with osteocytes |
| abnormal cementoblast morphology | any structural anomaly of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes |
| decreased cementoblast number | fewer than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes |
| abnormal cementocyte lacuna morphology | any structural anomaly of the small cavity within the cellular cementum that is occupied by a cementocyte cell body; cementocyte lacunae are described as larger and more irregular in size and shape (from oval to tubular) and with rougher walls than the typical ellipsoid osteocyte lacunae; occasionally, empty lacunae or lacunae containing more than one cell are observed in cellular cementum, not typically observed in osteocyte lacunae |
| abnormal cementocyte canaliculus morphology | any structural anomaly of the slender canals situated between lacunae of the cellular cementum where cementocyte cytoplasmic (dendritic) processes reside; cementocyte canaliculi appear to be less organized, more sparse, and do they radiate outward, with the majority of them oriented toward the vascular periodontal ligament for nutrition, unlike osteocyte canaliculi which are radiating, more dense and arranged in a complex network |
| abnormal cementocyte dendritic process morphology | any structural anomaly of the long, slender cytoplasmic processes that extend from the cementocyte cell body, run along narrow canaliculi, and are linked to neighboring cementocytes processes via gap junctions; cementocytes harbor fewer dendritic processes than osteocytes |
| abnormal blastocoele morphology | any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals |
| abnormal heart left ventricle pressure | any anomaly in the pressure within the left cardiac ventricle |
| abnormal growth hormone level | anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization |
| complete cleft palate | fissure of the palate that involves the full length of both the primary and secondary palates |
| anterior cleft palate | fissure of the palate formed by the failure of fusion between the primary and secondary palates |
| increased eye anterior chamber depth | increased distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls |
| abnormal juxtaglomerular apparatus morphology | any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles |
| abnormal renal sodium reabsorption | any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream |
| hypovolemia | An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. |
| abnormal macula densa morphology | any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid |
| abnormal juxtaglomerular cell morphology | any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation |
| abnormal extraglomerular mesangial cell morphology | any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole |
| increased circulating angiotensin II level | increased concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone |
| increased Deiters cell number | increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities |
| midbrain hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes |
| decreased tubuloglomerular feedback response | attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa |
| acoria | absence of the pupil of the eye |
| enlarged lacrimal gland | increased size of any of the paired glands that secrete the aqueous layer of the tear film |
| decreased substantia nigra size | decreased size of the substantia nigra |
| impaired behavioral response to alcohol | decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| abnormal impulsive behavior control | any anomaly in the ability of an individual to exert restraint over behavior |
| disorganized suprabasal layer | derangement of the pattern of the suprabasal layer of the skin |
| decreased angiotensin I-converting enzyme activity | reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin |
| increased hepatoblast apoptosis | increase in the number of hepatoblasts undergoing programmed cell death |
| intermingled spleen red and white pulp | no clear demarcation of the spleen red and white pulp tissue |
| abnormal superior glossopharyngeal ganglion morphology | any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen |
| abnormal interleukin-6 secretion | anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| abnormal posterior cardinal vein morphology | any structural anomaly of the two paired veins draining the caudal part of the body |
| abnormal vascular permeability | anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases |
| absent somatotrophs | absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin |
| decreased pituitary gland weight | reduction in the average weight of the compound gland suspended from the base of the hypothalamus |
| increased circulating ghrelin level | greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland |
| decreased lumbar vertebrae number | reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| small occipital bone | reduced size of the bone at the lower, posterior part of the skull |
| abnormal hematopoietic stem cell morphology | any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages |
| pulmonary trunk hypoplasia | underdevelopment or reduced size of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery, usually due to reduced cell number |
| abnormal bulbus cordis morphology | any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches |
| cleft hard palate | |
| long fibula | Disproportionately long fibulae. |
| polyphalangy | increased number of phalanges in any of the digits |
| decreased circulating interferon-alpha level | reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells |
| abnormal peroxisome morphology | any structural anomaly of a small cytoplasmic organelle enclosed by a single membrane that contains peroxidases and other enzymes which are important for a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism |
| increased mitochondrial number | |
| abnormal peroxisome physiology | any functional anomaly of the small organelle enclosed by a single membrane that contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism |
| abnormal azygos vein morphology | any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava |
| abnormal interleukin-13 secretion | anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses |
| abnormal interleukin-5 secretion | anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells |
| abnormal sensorimotor gating | malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) |
| abnormal spinal cord lateral column morphology | any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots |
| abnormal liver vasculature morphology | any structural anomaly of the blood vessel network of the bile-secreting exocrine gland |
| umbilical artery stenosis | abnormal constriction or narrowing of one or both umbilical arteries that carry deoxygenated, nutrient-depleted blood from the fetus to the placenta |
| umbilical vein stenosis | abnormal constriction or narrowing of the unpaired umbilical vein that carries oxygenated, nutrient-rich blood from the placenta to the fetus |
| enlarged hippocampus | Increase in size of the hippocampus. |
| chromodacryorrhea | shedding of red or blood-stained tears due to continuous or excessive secretion of porphyrin from the Harderian gland; as these secretions overflow from the eye and drain through the nasal passages to exit the nares dark rust-colored staining, or crust, can be seen around the eyes and nostrils; these secretions may be transferred to the paws and muzzle during grooming; red tears may be associated with nutritional deficiencies, chronic physiological stress, chronic light exposure, or dacryoadenitis |
| abnormal dorsal striatum morphology | any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure |
| decreased soleus weight | reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot |
| aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| decreased fetal cardiomyocyte proliferation | reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division |
| abnormal mammary gland physiology | any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast |
| liver cirrhosis | |
| abnormal liver copper level | anomaly in the amount of copper present in the liver tissue |
| abnormal copper level | anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins |
| increased circulating type I collagen C-terminal telopeptide level | greater than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen; elevated serum levels of beta-CTX indicate increased bone resorption |
| increased aggression | when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action |
| decreased small intestinal villus size | reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold |
| abnormal intestinal smooth muscle morphology | any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine |
| absent zygomatic arch | absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone |
| hyperglycinuria | An increased concentration of glycine in the urine. |
| increased urine flow rate | increased volume of urine produced in a specified period of time |
| abnormal retina horizontal cell morphology | any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina |
| abnormal periocular mesenchyme morphology | any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye |
| choanal atresia | OMIM mapping confirmed by DO. [SN]. |
| ethmoturbinate hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals |
| ventral rotation of lens | a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point |
| decreased ventral retina size | decreasd size of the ventral portion of the retina |
| absent nasolacrimal duct | absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity |
| absent maxillary sinus | absence of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose |
| persistent nasal fins | failure of the nasal fins to rupture during development leading to choanal obstruction/atresia |
| decreased periocular mesenchyme apoptosis | reduction in the number of cells of the periocular mesenchyme undergoing programmed cell death |
| abnormal scapular spine morphology | any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached |
| abnormal thyroxine level | any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism |
| abnormal triiodothyronine level | anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| ocular albinism | |
| increased retina photoreceptor cell number | greater than the expected number of rods and/or cones |
| abnormal gustatory papilla taste bud morphology | any structural anomaly of the lingual taste buds found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae |
| abnormal circumvallate papillae morphology | any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue |
| eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| decreased creatine level | reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized |
| decreased circulating creatine level | reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized |
| decreased urine creatine level | a decreased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen |
| decreased circulating ceruloplasmin level | decreased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme |
| increased glucagon secretion | greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes |
| parietal bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the curved bone forming part of the vault of the cranium |
| ischium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis |
| pubis hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis |
| increased lung endothelial cell proliferation | greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division |
| failure of myelopoiesis | missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells |
| abnormal fetal derived definitive erythrocyte cell number | anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins |
| small intervertebral disk | reduced size of the cartilaginous and gelatinous structure found between vertebrae |
| abnormal telomere length | abnormal length of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration; normal length is a few hundred base pairs |
| streak gonad | impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue |
| abnormal adipose tissue amount | more or less than the normal total amount of connective tissue composed of fat cells |
| abnormal osteocyte morphology | any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi |
| abnormal parasympathetic system morphology | any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system |
| abnormal pterygopalatine ganglion morphology | any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands |
| abnormal otic ganglion morphology | any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland |
| decreased susceptibility to infection induced morbidity/mortality | reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens |
| radius hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the short bone of the lateral forearm |
| small intestine hemorrhage | bleeding into any segment of the small intestine |
| narrow snout | decreased width of the anterior facial part of the face or muzzle containing the oral and nasal regions |
| osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| abnormal hippocampus physiology | any functional anomaly related to processes in the deep lying structure of the cerebrum involved with memory storage and spatial navigation |
| urinary bladder obstruction | any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine |
| abnormal urinary bladder detrusor smooth muscle morphology | any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine |
| abnormal male prostatic urethra morphology | any structural anomaly of the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) |
| abnormal urinary bladder neck morphology | any structural anomaly of the constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra |
| urethra obstruction | |
| seminal vesiculitis | local accumulation of fluid, plasma proteins, and leukocytes in the seminal vesicle(s), usually caused by an infection |
| abnormal urination pattern | increased or decreased frequency of urination episodes, or extended periods of anuria |
| abnormal interleukin-2 secretion | anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes |
| small acromion | reduced size of the outer end of the spine of the scapula that protects the glenoid cavity, forms the outer angle of the shoulder, and articulates with the clavicle |
| erythroderma | An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. |
| abnormal internal auditory canal morphology | any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins |
| abnormal spiral limbus morphology | any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea |
| abnormal stapes footplate morphology | any structural anomaly in the flat portion of the stapes that fits in the oval window |
| abnormal oval window morphology | any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes |
| small scala tympani | volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina |
| abnormal subarcuate fossa morphology | any structural anomaly of the irregular depression found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus |
| increased susceptibility to induced pancreatitis | more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation |
| delayed pancreas regeneration | late onset of the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease |
| absent cochlear hair bundle ankle links | absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down |
| decreased metastatic potential | reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it |
| abnormal pancreatic duct morphology | any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum |
| supernumerary molars | increased number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface |
| abnormal renal tubule epithelial cell primary cilium morphology | any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor |
| decreased pancreatic primary cilium length | reduced length of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction |
| decreased pancreatic primary cilium number | reduced number of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction |
| increased circulating glycerol level | elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source |
| abnormal circulating lipid level | |
| increased sebaceous gland number | greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts |
| increased urine beta2-microglobulin level | greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma |
| abnormal iris pigment epithelium | anomaly in the epithelial layer of the iris composed of cells containing pigment granules |
| abnormal iris stromal pigmentation | any anomaly in the coloring of the framework of the iris |
| abnormal cellular replicative senescence | anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division |
| absent Reichert's membrane | absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development |
| abnormal mural trophectoderm morphology | any structural anomaly of the trophectoderm portion distal to the ICM that overlays the blastocyst cavity and gives rise to polyploid trophoblast giant cells |
| absent nasal bone | absence of either of two rectangular bone plates forming the bridge of the nose |
| hypochromic macrocytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal |
| absent metanephric mesenchyme | absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue |
| abnormal tumor necrosis factor secretion | anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium |
| abnormal conjunctiva goblet cell morphology | any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it |
| decreased tear production | decreased production of the amount of fluid produced in the eye |
| increased lacrimal gland apoptosis | increase in the number of cells of the lacrimal gland undergoing programmed cell death |
| periocular dermatitis | inflammation of the skin on the eyelids and around the eyes; a variant of perioral dermatitis |
| decreased conjunctiva goblet cell number | fewer than normal numbers of the mucin-secreting cells found on the conjunctival epithelium; goblet cell loss has been reported in several inflammatory diseases of the ocular surface, including Stevens-Johnson syndrome, ocular mucous membrane pemphigoid, alkali burn, neutrophilic keratitis, graft-versus-host-disease, and Sjogrens's syndrome |
| corneal limbitis | inflammation of the corneal limbus |
| abnormal gastrocnemius morphology | any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles |
| abnormal soleus morphology | any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot |
| abnormal tibialis anterior morphology | any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot |
| retina hemorrhage | bleeding into the retina |
| abnormal T wave | any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles |
| aorta pulmonary collateral arteries | small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus |
| abnormal kidney afferent arteriole morphology | any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism |
| abnormal kidney efferent arteriole morphology | any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule |
| abnormal kidney interlobular artery morphology | any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli |
| abnormal renal glomerulus basement membrane thickness | increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule |
| renal ischemia | inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis |
| dilated capillary | stretched or widened aperture of the luminal space of one or more of the small branching blood vessels that form a network between the arterioles and venules |
| increased capillary tortuosity | increase in the degree of twisting of capillaries |
| decreased interleukin-1 alpha secretion | reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active |
| decreased interleukin-18 secretion | reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity |
| increased circulating interleukin-4 level | increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| increased circulating interleukin-5 level | increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells |
| absent germinal center B cells | absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen |
| increased corneal light-scattering | anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma |
| sclera thinning | |
| decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| increased muscle relaxation | greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions |
| abnormal substantia nigra pars compacta morphology | any structural anomaly of the posterior (dorsal) part of grey matter of the substantia nigra which contains large, polygonal, and densely packed dopamine-producing cells; pars compacta neurons are pigmented in many species |
| flattened snout | a snout flattened laterally along the whole length without the appearance of distinctive curvature |
| enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| broad snout | increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions |
| decreased keratinocyte migration | reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body |
| decreased interscapular fat pad weight | less than average weight of the encapsulated adipose tissue located between the scapulae |
| conductive hearing impairment | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| abnormal nicotine-mediated receptor currents | change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors |
| decreased erythroblast number | reduced number of the nucleated precursor of erythrocytes |
| decreased brown fat cell lipid droplet size | reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes |
| decreased white fat cell number | reduction in the number of fat cells with light coloration and few mitochondria |
| decreased brown fat lipid droplet number | reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes |
| abnormal alveolocapillary membrane morphology | any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm |
| absent hair follicle inner root sheath | absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle |
| absent auchene hairs | absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla |
| absent awl hair | absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla |
| absent fetal ductus arteriosus | absence of the fetal vessel that connects the left pulmonary artery with the descending aorta |
| increased circulating histamine level | increase in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching |
| abnormal pinna hair pigmentation | amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation |
| small vagina | decrease in the size of the female reproductive canal located between the uterus and the vulva |
| short proestrus | decrease in the length of the proestrous phase of the estrous cycle in female animals |
| abnormal internal female genitalia morphology | any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina |
| persistent cloaca | Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. |
| splayed clitoris | flattened or spread out clitoris |
| thick pulmonary valve | an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness |
| embryonic lethality between implantation and placentation, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) |
| abnormal penis morphology | any structural anomaly of the organ of copulation and urination in the male |
| decreased leukotriene level | reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells |
| abnormal prostaglandin level | anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation |
| decreased renal tubule apoptosis | decrease in the number of renal tubule cells undergoing programmed cell death |
| increased alcohol consumption | greater than normal consumption of alcohol |
| abnormal ventral interneuron 2 morphology | any structural anomaly of the ventral interneurons that project ipsilaterally, extend axons caudally across several segments, have both excitatory (V2a) and inhibitory (V2b) subclasses, and are characterized by expression of Chx10, Gata3, Irx3, and Lhx3 |
| absent proprioceptive neurons | absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord |
| increased muscle spindle number | greater number of the sensory organs in muscle that are involved in the stretch reflex |
| small tectum | reduced size of the rostral part of the midbrain roof |
| iris stroma hypoplasia | underdevelopment or reduced size of the iris stroma, usually due to a reduced number of cells |
| absent midbrain-hindbrain boundary | absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate |
| decreased rhombomere 1 size | reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus |
| ciliary body hypoplasia | decrease in the number of normal cells in normal arrangement in the ciliary body, typically resulting in decreased size |
| umbilical hernia | A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. |
| increased heart left ventricle size | greater than average size of the left ventricle |
| ectopia cordis | Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. |
| generalized edema | Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| premature neuronal precursor differentiation | earlier than normal transformation of neuronal precursor cells into neurons |
| abnormal rostral migratory stream morphology | any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs |
| abnormal small intestinal transit time | increase or decrease in the time it takes for a bolus of material to pass through the small intestine |
| increased gallbladder volume | greater than average amount of space occupied by gallbladder in the body |
| abnormal neural crest cell morphology | any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head |
| abnormal head paraxial mesoderm morphology | any structural anomaly of the paraxial mesoderm located on either side of the neural tube, anterior to the occipital somites; in the head region, the unsegmented cranial paraxial mesoderm contributes to the developing heart, specific skull bones and skeletal muscles of the head and neck region |
| decreased susceptibility to Riboviria infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm |
| abnormal atrioventricular node conduction | anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle |
| abnormal atrioventricular bundle morphology | any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle |
| abnormal right bundle morphology | any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers |
| prolonged PQ interval | increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave |
| abnormal gonad rudiment morphology | any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads |
| abnormal second pharyngeal arch morphology | any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils |
| stomach hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the stomach |
| outer ear hypoplasia | decrease in the number of normal cells in normal arrangement in the outer ear, typically resulting in decreased size |
| short styloid process | length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments |
| absent oval window | missing the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes |
| ocular hypotelorism | decreased interpupillary distance, i.e. decreased distance between the center of the pupils of the two eyes |
| philtrum hypoplasia | |
| absent basisphenoid bone | absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone |
| abnormal urination | anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body |
| abnormal calcaneum morphology | any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it |
| decreased susceptibility to Coronaviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus |
| increased white fat cell size | increase in the size of fat cells with light coloration and few mitochondria |
| decreased susceptibility to xenobiotic induced morbidity/mortality | increase in the amount of a compound foreign to living organisms required to cause death or diseased state |
| decreased susceptibility to noise-induced hearing loss | less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea |
| small gallbladder | reduced size of the gall bladder, the organ that serves as a storage reservoir for bile |
| abnormal atrium myocardium morphology | any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle |
| abnormal gallbladder smooth muscle morphology | any structural anomaly of the layer of loose smooth muscle bundles (tunica muscularis) located beneath the mucosa of the gallbladder wall and composed of fibers that are not arranged in distinct layers but lie in circular, longitudinal, and oblique directions; when these fibers contract, the gallbladder s contents are released through the cystic duct into the bile duct and eventually emptied into the duodenum to aid in the digestion of fats |
| decreased NK T cell number | reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| decreased follicular dendritic cell number | reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response |
| abnormal peritoneal macrophage morphology | any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum |
| increased reproductive system tumor incidence | greater than the expected number of tumors originating in the reproductive system in a given population in a given time period |
| agnathia | congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia |
| decreased pituitary hormone level | less than the expected amount of any of the pituitary hormones in the blood or tissues |
| abnormal pancreatic somatostatin secretion | anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs |
| increased pancreatic alpha cell proliferation | increase in the ability of the glucagon-producing cells of the islets of Langerhans in the endocrine pancreas to undergo expansion by cell division |
| dilated esophagus | an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach |
| impaired behavioral response to morphine | decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| impaired behavioral response to anesthetic | decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent |
| decreased coping response | reduced ability to respond productively to a stressful situation |
| increased respiratory quotient | increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls |
| Lafora bodies | abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death |
| increased body fat mass | increased physical bulk or volume of fat in the whole body |
| abnormal thymus cell ratio | deviation from the standard ratios of thymocyte subpopulations compared to control samples |
| abnormal nipple development | an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open |
| absent marginal zone B cells | absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| absent transitional stage B cells | absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection |
| cervical vertebrae degeneration | retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull |
| abnormal renal vascular resistance | deviation from the normal force opposing blood flow in the kidney blood vessels |
| abnormal gametes | anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote |
| nervous | increased, skittish, behavior induced by stimulation such as handling, touching or noise |
| abnormal spleen B cell corona morphology | any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes |
| decreased susceptibility to graft versus host disease | less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host |
| abnormal mucociliary clearance | anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands |
| abnormal respiratory motile cilium morphology | Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms. |
| abnormal respiratory motile cilium physiology | Any functional anomaly of the respiratory motile cilia. |
| abnormal blood-cerebrospinal fluid barrier function | anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood |
| increased thyroxine level | greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism |
| increased triiodothyronine level | greater amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| enlarged esophagus | |
| spina bifida cystica | |
| abnormal external female genitalia morphology | |
| abnormal external male genitalia morphology | any structural anomaly of the external masculine genital organs, including the penis and scrotum |
| abnormal renal glomerular filtration rate | anomaly in the rate of the process in which plasma is filtered through the glomerular membrane, which consists of capillary endothelial cells, the basement membrane, and epithelial cells; the glomerular filtrate is the same as plasma except it has no significant amount of protein |
| vestibular saccular degeneration | degeneration or loss of the smaller of the two sacs in the vestibule |
| utricular degeneration | degeneration or loss of the larger of the two sacs in the vestibule |
| abnormal olfactory epithelium cilium morphology | any structural anomaly of the cilia of the epithelial cells that line the interior of the nose |
| abnormal parotid gland physiology | any functional anomaly of either of the largest of the major salivary glands situated below and in front of each ear |
| abnormal enamel knot morphology | any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps |
| abnormal dental lamina morphology | any structural anomaly of the U-shaped stripe of thickened oral epithelium marking the future tooth row; the primary dental lamina is the earliest morphological structure of the tooth formed in the embryo; local thickenings of the dental lamina from which individual teeth are initiated are known as tooth placodes |
| abnormal dental papilla morphology | any structural anomaly of the condensation of ectomesenchymal cells called odontoblasts seen in histologic sections of a developing tooth; the dental papilla lies below a cellular aggregation known as the enamel organ and differentiates into the dentin and dental pulp |
| abnormal cervical loop morphology | any structural anomaly of the most cervical part of an enamel organ where the inner enamel epithelium and the outer enamel epithelium merge in a loop, thus delineating the end of the anatomic crown and the site where root formation begins; to form the root region, the cervical loop begins to grow deeper into the surrounding ectomesenchyme of the dental sac, elongating and moving away from the newly completed crown area to enclose more of the dental papilla, forming Hertwig's epithelial root sheath (HERS) |
| epidermal necrosis | morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage |
| biliary cyst | |
| pancreas hypoplasia | |
| abnormal hepatoblast differentiation | developmental anomaly or inability of hepatoblasts to differentiate into hepatocytes and cholangiocytes |
| abnormal circulating iron level | anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes |
| abnormal chemical nociception | abnormal capability to sense pain elicited by chemical stimulation |
| absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| abnormal centrosome morphology | any structural anomaly of the non-membrane-bound organelle comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized; centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle |
| abnormal branching involved in terminal bronchiole morphogenesis | anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized |
| abnormal myoblast differentiation | anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myoblast, a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers |
| decreased susceptibility to induced pancreatitis | reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation |
| abnormal circulating amylase level | any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood |
| abnormal circulating lipase level | any anomaly in the concentration of lipase in the blood, in particular the serum; the measurement of serum lipase activity is widely used for the diagnosis of acute pancreatitis |
| abnormal mitochondrial shape | An anomaly in the surface contour of mitochondria. |
| abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria |
| dilated lateral semicircular canal | stretched or widened aperture of the luminal space of the lateral semicircular canal |
| dilated posterior semicircular canal | stretched or widened aperture of the luminal space of the posterior semicircular canal |
| absent cochlear modiolus | absence of the central cone shaped core of spongy bone about which turns the spiral canal |
| enlarged utricle | increased size of the larger of the two sacs in the vestibule |
| abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage |
| increased rhombomere 3 size | increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| rhombomere fusion | the union of one or more rhombomeres into a single structure |
| disorganized retina outer plexiform layer | a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) |
| disorganized photoreceptor inner segment | derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| joint inflammation | |
| abnormal ovary secretion | anomaly in the production and/or release of hormones from ovarian tissue |
| parturition failure | the process of labor and delivery in female animals does not initiate or complete |
| syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| increased QRS amplitude | increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects |
| decreased incidence of induced tumors | reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus |
| increased keratohyalin granule size | increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| increased sebum secretion | increased production and/or release of the lipid-rich substance that is produced by the sebaceous glands, acts to lubricate and waterproof the skin and hair of mammals, and provides antibacterial activity; sebum is released by disintegrating sebocytes that are continuously replaced from progenitors in the periphery of the sebaceous gland; its composition varies across species |
| abnormal sebocyte differentiation | abnormal formation or arrest of differentiation of the sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation; these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection; sebocyte differentiation is defined by increasing accumulation of lipid droplets, the major component of sebum |
| increased sebocyte proliferation | increase in the expansion rate of sebocytes by cell division |
| lens dislocation | partial or complete displacement of the crystalline lens of the eye out of its normal position |
| abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| long tibia | increased length of the medial and larger of the two bones of the lower leg |
| decreased circulating type I collagen C-terminal telopeptide level | less than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen |
| decreased neural crest cell number | reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult |
| enhanced NMDA-mediated synaptic currents | increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors |
| abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| abnormal dendritic cell morphology | any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation |
| abnormal dorsal spinal root morphology | any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves |
| telencephalon hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures |
| small lateral ventricles | decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle |
| increased heart ventricle size | increased average size of the heart ventricles compared to the average for a particular population |
| abnormal anterior definitive endoderm morphology | any structural anomaly of the mesendoderm which first migrates from the node and evolves into the foregut, from which pancreas, liver and lungs will eventually emerge |
| abnormal notochordal plate morphology | any structural anomaly of the dorsal part of the notochordal process when the ventral portion breaks down; it is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube; the folding off of the notochordal plate gives rise to the notochord |
| absent type I pneumocytes | absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange |
| abnormal pulmonary alveolus epithelium morphology | any structural anomaly of the epithelial layer of the alveoli |
| decreased surfactant secretion | decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli |
| increased sebaceous gland adenoma incidence | |
| hyperthreoninuria | An increased concentration of threonine in the urine. |
| hydroxyprolinuria | An increased concentration of 4-hydroxy-L-proline the urine. |
| abnormal subcommissural organ morphology | any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin |
| small cricoid cartilage | size reduction of the most inferior of the laryngeal cartilages |
| dysmetria | A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. |
| abnormal cochlear basement membrane morphology | any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes |
| enlarged trigeminal ganglion | increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve |
| abnormal dopaminergic neuron morphology | any structural anomaly of the neurons that utilize dopamine as a neurotransmitter |
| abnormal occipital lobe morphology | any structural anomaly of the posterior part of the cerebral hemisphere |
| cerebral aqueductal stenosis | |
| absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| abnormal platelet morphology | An anomaly in platelet form, ultrastructure, or intracellular organelles. |
| decreased platelet alpha-granule number | decreased number of platelet alpha-granules |
| decreased bone volume | reduced amount of space occupied by bone tissue in the skeleton |
| papillary muscle hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the papillary muscle |
| impaired intestine regeneration | decrease in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease |
| decreased heart right ventricle size | less than average size of the right ventricle compared to the average for a particular population |
| palatal shelf hypoplasia | reduced size of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, often due to reduced cell number |
| abnormal palate bone morphology | any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate |
| absent epidermis stratum granulosum | absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis |
| absent epidermis stratum spinosum | absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance |
| abnormal primitive urogenital sinus morphology | any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females |
| urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the defect, an open pubic arch, and widely separated ischia connected by a fibrous band |
| absent pubic symphysis | absence of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones |
| abnormal mature gamma-delta T cell morphology | any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex |
| increased mature gamma-delta T cell number | increased number of a mature T cell expressing an gamma-delta T cell receptor complex |
| abnormal trophoblast giant cell proliferation | abnormality in the expansion rate of the trophoblast giant cell population by cell division |
| abnormal fibroblast migration | any anomaly of fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| abnormal round window morphology | any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; serves to regulate fluid pressure in the inner ear |
| anhedonia | Inability to experience pleasure activities usually found enjoyable. |
| enhanced behavioral response to nicotine | increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response |
| increased cochlear nerve compound action potential | greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve |
| abnormal mineral homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions |
| increased bone mineral content | elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area |
| decreased volumetric bone mineral density | reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests |
| neural tube degeneration | a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) |
| abnormal inferior olivary complex morphology | any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements |
| absent red nucleus | absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination |
| loss of basal ganglia neurons | loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event |
| absent ribs | absence of all the pairs of bony structures that make up the body wall |
| increased tail bud apoptosis | increased number of cells undergoing programmed cell death in the primordial region of the embryo that arises to form the tail of the adult |
| increased lung tumor incidence | greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal primary ovarian follicle morphology | any structural anomaly in the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca |
| abnormal olfactory discrimination memory | anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus |
| absent epidermis stratum basale | absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells |
| skin detachment | loss of sections of skin either spontaneously or after gentle handling |
| absent enamel | absence of the hard outer coating of the exposed portion of the tooth |
| abnormal upper incisor color | anomaly in the color and shading of the upper incisors, which normally presents in shades of white |
| abnormal chromosomal synapsis | any anomaly in the meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during prophase I of meiosis; synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete |
| frontal bone hypoplasia | Underdevelopment of the frontal bone. |
| absent turbinates | absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage |
| decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| increased lipoma incidence | greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period |
| abnormal corticotroph morphology | any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) |
| absent thyrotrophs | absence of an anterior pituitary cell that produces thyroid-stimulating hormone |
| absent pituitary intermediate lobe | absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| abnormal blood gas level | An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. |
| small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| decreased cardiac stroke volume | reduction in the volume of blood pushed into the aorta with each beat of the heart |
| decreased cellular sensitivity to hydrogen peroxide | reduced incidence of cell death following exposure to hydrogen peroxide |
| decreased cellular sensitivity to oxidative stress | reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis |
| long stride length | increased average distance between steps |
| abnormal skeletal muscle fiber triad morphology | any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads |
| decreased bone mineral density of vertebrae | reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column |
| abnormal blinking | anomaly in the normal reflex of closing the eyes frequently and rapidly |
| abnormal parasympathetic neuron morphology | any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands |
| thick eyelids | increased width of the eyelid |
| keratoconjunctivitis sicca | |
| abnormal lacrimal gland innervation pattern | any structural or position anomaly of the supply of nerve fibers that connect to the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears) |
| enlarged cervical lymph nodes | increased size of the lymph nodes found near the neck and shoulders |
| lymph node medullary cord hyperplasia | increase in the number of normal cells in normal arrangement in the lymph node medullary cords, resulting in a thickening or enlargement of the structure, caused by stimuli including increased physiological demand, inflammatory response, hormonal changes or hormonal dysfunctions, and/or compensation due to a pathological cause elsewhere |
| abnormal tumor pathology | any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state |
| decreased intestinal adenoma incidence | less than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period |
| abnormal respiratory mucosa goblet cell morphology | any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins |
| supernumerary teeth | presence of a supernumerary, i.e., extra, tooth or teeth |
| delayed palatal shelf elevation | delay in the timing of the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| loss of cortex neurons | loss of neurons in the cortex region of the brain, commonly due to an apoptotic event |
| long femur | increased length of the long bone of the thigh |
| abnormal urine protein level | anomaly in the amount of protein in the urine |
| abnormal bone volume | any anomaly in the amount of space occupied by bone tissue in the skeleton |
| increased compact bone volume | greater than normal amount of space occupied by compact bone tissue in the skeleton |
| decreased bone trabecular spacing | decrease in the amount of space between trabeculae in cancellous bone |
| decreased tumor necrosis factor (ligand) superfamily member 11 level | decrease in the amount of TNF superfamily member 11 protein |
| increased tumor necrosis factor receptor superfamily member 11b level | increase in the amount of tumor necrosis factor receptor superfamily member 11b protein |
| aortic dissection | Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. |
| increased pulmonary vascular resistance | |
| abnormal lung endothelial cell physiology | any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature |
| disorganized cortical plate | derangement of the patterned arrangement of the cortical plate |
| loss of GABAergic neurons | loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event |
| abnormal chondrocyte differentiation | any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte |
| abnormal phrenic nerve innervation pattern to diaphragm | any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm |
| abnormal artery development | anomaly in the process of forming the blood vessels that carry blood away from the heart |
| abnormal vein development | anomaly in the process of forming the blood vessels that carry blood to the heart |
| aorta stenosis | |
| abnormal umbilical cord morphology | any structural anomaly of the connective stalk between the fetus and the placenta |
| increased salivary gland tumor incidence | greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period |
| abnormal intrahepatic bile duct morphology | any structural anomaly of the passages within the liver for the conveyance of bile |
| abnormal hepatic vein morphology | any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions |
| decreased hepatoblast number | reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes |
| abnormal hepatic cord morphology | any structural anomaly of the three-dimensional arrangement formed by plates of hepatocytes, usually one cell thick, that radiates from the center of the liver lobule; hepatic laminae are highly branched, irregular structures bordered by endothelial lined vascular spaces called hepatic sinusoids |
| semilunar valve regurgitation | the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation |
| abnormal extracutaneous pigmentation | anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment |
| abnormal coronary vein morphology | any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus |
| coronary fistula | |
| coronary artery aneurysm | a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall |
| reduced NMDA receptor mediated synaptic activity in barrel cortex | lower than normal levels of excitatory synaptic current in the barrel cortex |
| alcohol aversion | purposeful avoidance of alcohol due to dislike |
| decreased susceptibility to type III hypersensitivity reaction | less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury |
| decreased alcohol consumption | less than normal consumption of alcohol |
| abnormal sex gland secretion | anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system |
| small vulva | decreased size of the external genitalia of the female |
| small external male genitalia | reduced size of the external masculine genital organs |
| abnormal vascular resistance | deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output |
| abnormal renin activity | altered ability of this enzyme to cleave angiotensionogen and create angiotensin I |
| increased circulating adrenaline level | greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| salt-sensitive hypertension | sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet |
| increased right ventricle peak pressure | increase in the difference between right ventricular systolic and diastolic pressures |
| long lower incisors | increased length or overgrowth of the lower set of long teeth that are the most anterior and prominent in the jaw |
| decreased extensor digitorum longus weight | reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle |
| increased NK cell number | greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells |
| increased circulating interleukin-12b level | increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 |
| premature endochondral bone ossification | early onset of bone formation in bones that form from cartilage |
| premature lambdoid suture closure | early closure of the lambdoid suture of the skull |
| disorganized outer root sheath cells | disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis |
| abnormal potassium ion homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment |
| decreased fasting circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| decreased intestinal glucose absorption | reduced ability of the small intestine to absorb glucose into the bloodstream |
| abnormal corneal wound healing | aberrant process of repair of trauma to the cornea, especially that caused by physical means |
| absent neural folds | absence of the elevated margins of the neural groove |
| chronic joint inflammation | persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response |
| abnormal incisor color | anomaly in the color and shading of the incisor, which normally presents in shades of white |
| abnormal tooth attrition | change in the physiologic wearing away of tooth structure as a result of abnormal tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces |
| abnormal mononuclear cell differentiation | atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form |
| herniated seminal vesicle | protrusion of the seminal vesicles through the pelvic outlet |
| abnormal auditory tube morphology | any structural anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment |
| middle ear polyps | development of numerous growths that are connected to and protrude from the mucous membrane of the middle ear |
| middle ear effusion | fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube |
| tympanic membrane retraction | a condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket |
| excessive cerumen | excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal |
| increased cellular sensitivity to X-ray irradiation | increased incidence of cell death following exposure to X-ray irradiation |
| increased glycerol level | |
| pulmonary valve regurgitation | |
| bicuspid aortic valve | The presence of an aortic valve with two instead of the normal three cusps (flaps). |
| abnormal aortic valve commissure morphology | any structural anomaly of the space or area between each anchored aortic valve leaflet to the aortic wall; the aortic valve is composed of 3 commissures that act as support to the base structure of the cusps |
| increased intestinal glucose absorption | increased ability of the small intestine to absorb glucose into the bloodstream |
| gastric hypertrophy | Hypertrophy of the stomach. |
| abnormal neurotransmitter uptake | aberration in the reabsorbtion of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell |
| abnormal type I cell of carotid body morphology | any structural anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters |
| abnormal type I cell of carotid body physiology | any functional anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters |
| increased parotid gland size | increased size of either of the largest of the major salivary glands situated below and in front of each ear |
| decreased interleukin-17 secretion | reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors |
| abnormal circulating calcium level | any anomaly in the concentration of calcium in the blood |
| abnormal circulating magnesium level | any anomaly in the blood concentration of magnesium |
| absent trigeminal ganglion | absence of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) |
| enhanced sensorimotor gating | amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) |
| abnormal platelet dense granule morphology | any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin |
| abnormal synaptic dopamine release | aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary |
| brain atrophy | Partial or complete wasting (loss) of brain tissue that was once present. |
| abnormal glucagon secretion | anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes |
| abnormal frontal lobe morphology | any structural anomaly of the anterior part of the cerebral hemisphere |
| abnormal parietal lobe morphology | any structural anomaly of the upper central part of the cerebral hemisphere |
| increased hippocampal fornix size | increased size of the hippocampal fornix |
| increased optic chiasm size | increased size of the optic chiasm |
| ureter obstruction | |
| decreased glycine level | reduction in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain |
| increased circulating serine level | increase in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group |
| increased glutamine level | increase in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states |
| increased glutamic acid level | increase in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter |
| decreased circulating glutamic acid level | reduction in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter |
| decreased skeletal muscle weight | less than average skeletal muscle weight |
| absent cardiac jelly | absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart |
| abnormal kidney weight | anomaly in the average weight of the organs responsible for urine secretion |
| absent hippocampus CA3 region | |
| abnormal major salivary gland morphology | any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands |
| decreased submandibular gland size | reduced size of either of the large major salivary glands situated beneath the mandible |
| abnormal submandibular gland development | aberrant formation or incomplete differentiation of either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible; in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty |
| periodontal ligament hypercellularity | increased cell density of the periodontal ligament |
| decreased circulating gonadotropin level | less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis |
| abnormal kidney epithelium morphology | any structural anomaly of the cellular avascular layer of the kidney luminar surfaces |
| abnormal kidney epithelial cell primary cilium physiology | any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation |
| fragmentation of sleep/wake states | short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls |
| abnormal circulating creatinine level | An abnormal concentration of creatinine in the blood. |
| decreased liver function | Reduced ability of the liver to perform its functions. |
| pancreas lipomatosis | an accumulation of abnormally localized or tumor-like fat in the pancreas |
| exocrine pancreas atrophy | acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal heart ventricle pressure | any anomaly in the pressure within a cardiac ventricle |
| abnormal pancreatic islet cell apoptosis | change in the timing or the number of pancreatic islet cells undergoing programmed cell death |
| abnormal pancreatic beta cell apoptosis | change in the timing or the number of pancreatic beta cells undergoing programmed cell death |
| decreased susceptibility to experimental autoimmune myasthenia gravis | reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits |
| hippocampus atrophy | acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change |
| dilated fourth ventricle | An abnormal dilatation of the fourth cerebral ventricle. |
| increased pituitary melanotroph tumor incidence | greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) |
| abnormal afferent lymphatic vessel morphology | any structural anomaly in the lymphatic tubes entering the lymph node |
| absent sperm annulus | absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology |
| abnormal litter size | deviation from the normal number of live born pups in a litter |
| decreased enterocyte apoptosis | reduction in the timing or the number of enterocytes undergoing programmed cell death |
| abnormal ureteric bud trunk morphology | any structural anomaly of the ureteric bud cells that elongate to form a rigid structure (stalk) consisting of polarized epithelial cells without branching; the stalks differentiate into the collecting system of the mature kidney, while the tip cells interact with the adjacent cells of the metanephric mesenchyme, inducing their conversion into nephrons |
| increased prostate gland adenocarcinoma incidence | |
| enlarged prostate gland dorsolateral lobe | increased size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle |
| enlarged prostate gland ventral lobe | increased size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck |
| endophthalmitis | A globe disease that is characterized by inflammation of the inside of the eye. |
| ocular pterygium | abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil |
| thin sperm flagellum | reduced thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility |
| abnormal acromion morphology | any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder |
| decreased diameter of humerus | reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
| abnormal neural crest cell delamination | any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate |
| absent head mesenchyme | absence of the primordial embryonic connective tissue of the developing head, normally consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells |
| abnormal folding of telencephalic vesicles | malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon |
| abnormal hair medullary septa cells | septa-forming cells of hair medulla are abnormal in size or arrangement |
| abnormal R wave | any anomaly in the R wave which represents ventricular depolarization and corresponds to electrical impulses rather than mechanical ventricular contractions; irregular or multiple R waves may indicate arrhythmia and the shape of the R waves may indicate ventricular problems |
| femur fracture | a crack or break in the long bone of the thigh (femur) |
| abnormal ear shape | any anomaly in the characteristic surface outline or contour of the external ear |
| abnormal auditory bulla morphology | any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone |
| abnormal incus body morphology | any structural anomaly of the flat, main part of the incus that articulates with the head of the malleus; two spines, the short and long processes, arise from the lower posterior part of the body and diverge from each other in a right angle |
| absent stapes head | missing the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint |
| abnormal stapes posterior crus morphology | any structural anomaly of the generally longer arching stem of the stapes that projects medially from the neck, forming the posterior border of the bone, and joins the flat, disc-like base |
| decreased round window size | less than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear |
| absent round window | absence of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear |
| abnormal circulating hormone level | any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects |
| decreased circulating dihydrotestosterone level | reduction in the blood concentration of a potent androgenic metabolite of testosterone |
| abnormal dorsal interneuron 1 morphology | any structural anomaly of the dorsal interneurons that migrate to the deep dorsal horn and intermediate gray tissue, recieve proprioceptive input from the periphery, form commissural projections of dorsal and ventral spinaocerebellar tracts, and are characterized by expression of Atoh1, Brn3a, Barhl1, and Lhx9 |
| increased creatinine clearance | increased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded |
| abnormal urine osmolality | changes in the amount of ions in the urine compared to the normal state |
| decreased susceptibility to hypertension | less likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| small inguinal lymph nodes | reduced size of the lymph nodes located in the groin area |
| increased cumulus expansion | greater ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization |
| abnormal folic acid level | any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia |
| abnormal cingulate gyrus morphology | any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing |
| abnormal tail pigmentation | anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment |
| abnormal embryonic neuroepithelial cell proliferation | any anomaly in the ability of the cells of the embryonic neuroepithelium to undergo expansion by cell division |
| abnormal hair follicle peg morphology | any structural anomaly of the solid column of keratinocytes growing into the dermis during embryonic hair follicle development; the concave proximal end starts to encase the dermal condensate, the future dermal papilla |
| abnormal keratinocyte adhesion | any anomaly in the adhesive properties of keratinocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions |
| abnormal arterial thrombosis | any anomaly in the formation or presence of thrombi inside one or more arteries, causing the obstruction of blood flow |
| abnormal ovary development | abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone |
| decreased circulating cortisol level | Abnormally reduced concentration of cortisol in the blood. |
| abnormal cocaine consumption | aberrant behavioral-related or physiological-related intake of cocaine into the body |
| abnormal chemically-elicited antinociception | change in the analgesic effect of chemical substances |
| increased Schwann cell proliferation | increase in the expansion rate of a Schwann cell population by cell division |
| decreased splenocyte apoptosis | reduction in the number of spleen cells undergoing programmed cell death |
| decreased level of surface class I molecules | reduced expression of major histocompatibility complex class I molecules at the cell surface |
| decreased germinal center B cell number | reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen |
| parotid gland inflammation | |
| decreased circulating interleukin-12b level | reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 |
| increased compact bone mass | greater than normal total amount of compact bone tissue contained in the skeleton |
| abnormal strial basal cell morphology | any structural anomaly in the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament |
| absent NK T cells | absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| abnormal germinal center B cell physiology | abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes |
| abnormal germinal center B cell morphology | any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen |
| increased susceptibility to induced arthritis | more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents |
| spinal cord inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the spinal cord |
| abnormal single cell response | altered values from controls obtained upon extra- or intracellular recordings from single cells |
| enlarged pituitary intermediate lobe | increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| abnormal olfactory receptor morphology | any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium |
| abnormal sex gland physiology | any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction |
| abnormal oviduct transport | increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus |
| oviduct atrophy | acquired diminution of the size of the oviduct associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| small oviduct | reduced size of the tube through which the ova pass from the ovary to the uterus |
| abnormal lung alveolus development | anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways |
| abnormal branching involved in seminal vesicle morphogenesis | anomaly in the process in which the seminal vesicle is generated and organized in many mammals including mice and humans; in mice, the initial seminal vesicle buds form cane-shaped tubes off of the Wolffian ducts before birth; after birth, the initial tubes develop lateral branches that elongate and often undergo secondary branching morphogenesis; branching morphogenesis is largely complete by 2 weeks of age |
| abnormal circulating interferon level | anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions |
| spleen vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the spleen |
| abnormal susceptibility to hearing loss | anomaly in the sensitivity to loss of hearing related to age or environmental factors |
| decreased interferon-alpha secretion | decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells |
| decreased interleukin-12b secretion | reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 |
| bronchiolitis | A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. |
| abnormal airway resistance | anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| abnormal internode morphology | any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath |
| increased myelin sheath thickness | increase in the depth of the insulating envelope that surrounds nerve fibers or axons |
| abnormal parotid gland acinus morphology | any structural anomaly of any of the secretory units (acini) of either parotid gland which in human and rodent consist almost exclusively of serous secretory cells with their lumina continuous with intercalated ducts; in mouse, parotid gland acini are very small and consist of 3-4 tall pyramidal cells with strongly basophilic cytoplasm and basally located, large spherical nuclei; the serous secretory cells contain many secretory granules having an electron-lucent profile which are situated in the supranuclear cytoplasm; the serous secretory cells have a well-developed rough endoplasmic reticulum in the infranuclear region and are surrounded by myoepithelial cells |
| seminal vesicle epithelium degeneration | a retrogressive impairment of function or destruction of the pseudostratified columnar epithelium that lines the seminal vesicles |
| abnormal Reichert's membrane thickness | anomaly in the width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm |
| broad nasal bone | increased width of either of two rectangular bone plates forming the bridge of the nose |
| high mean erythrocyte cell number | greater than average numbers of red blood cells |
| abnormal bone resorption | anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts |
| absent platelets | lack of non-nucleated cells found in the blood and involved in blood coagulation |
| absent brain internal capsule | absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord |
| distended duodenum | an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention |
| decreased corticospinal tract size | reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract |
| disorganized barrel cortex | derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae |
| abnormal sympathetic postganglionic fiber morphology | any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ |
| impaired spacing of implantation sites | in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus |
| delayed embryo implantation | any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium |
| abnormal retina blood vessel pattern | anomaly in the systematic arrangement of the blood vessels supplying the retina |
| absent Hassall's corpuscle | absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages |
| small thymus medulla | decreased size of the inner area of thymus lobules |
| abnormal orbitosphenoid bone morphology | any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young |
| abnormal anterior primitive streak morphology | any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node |
| premature intramembranous bone ossification | early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle |
| absent jugum limitans | missing the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures |
| decreased circulating phospholipid level | reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group |
| abnormal osteoclast cell number | deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue |
| decreased susceptibility to bone fracture | reduced probability that injury or disease will result in damaged or broken bones |
| abnormal bone mineral density | anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size |
| ketoacidosis | Acidosis resulting from accumulation of ketone bodies. |
| abnormal medial ganglionic eminence morphology | any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE |
| increased thyroid tumor incidence | greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period |
| abnormal vascular endothelial cell migration | anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body |
| decreased axial mesoderm size | reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord |
| abnormal cochlear hair cell physiology | any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve |
| scapular bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in either or both of the large, flat bones of the back part of the shoulder |
| failure of adrenal epinephrine secretion | inability of adrenal gland to deliver epinephrine into the blood stream |
| abnormal cochlear hair cell inter-stereocilial links morphology | any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles |
| abnormal cochlear hair bundle tip links morphology | any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin |
| abnormal inner hair cell kinocilium morphology | any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells |
| abnormal outer hair cell kinocilium morphology | any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells |
| decreased a-wave implicit time | decrease in the time from the onset of light stimulus to the peak of the a-wave |
| decreased b-wave implicit time | decrease in the time from the onset of light stimulus to the peak of the b-wave |
| muscle twitch | minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder |
| abnormal sphingomyelin level | deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis |
| increased oligodendrocyte progenitor number | greater number of cells that differentiate into a type of glial cell in the central nervous system |
| decreased femur size | less than average size of the long bone of the thigh (femur) |
| decreased femur weight | less than average weight of the long bone of the thigh (femur) |
| abnormal trigeminal motor nucleus morphology | any structural anomaly of the group of motor neurons innervating the muscles of mastication |
| increased glycogen level | greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle |
| abnormal respiratory quotient | anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls |
| abnormal anterior uvea morphology | any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris |
| decreased platelet ADP level | reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets |
| short cochlear hair cell stereocilia | reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells |
| abnormal vestibuloocular dark reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light |
| abnormal vestibuloocular light reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light |
| absent vomer bone | missing triangular flat bone of the nasal septum |
| basisphenoid bone hypoplasia | underdevelopment or reduced size, usually due to reduced cell number, in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone |
| palatine bone horizontal plate hypoplasia | underdevelopment, usually due to a deficiency in the number of cells, of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate |
| maxillary shelf hypoplasia | underdevelopment, usually due to a deficiency in the number of cells, of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| thin frontal bone | reduced thickness of the single bone forming the forehead and roof of the eye orbit |
| thin interparietal bone | reduced thickness of the bone of the cranium that lies above and anterior to the occipital bone in some mammals |
| abnormal auditory cortex morphology | any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information |
| decreased femur compact bone thickness | reduced width of the superficial layer of compact bone at the midpoint of the femur |
| decreased bone mineral density of caudal vertebrae | reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail |
| abnormal keratinocyte apoptosis | aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum |
| abnormal aqueous drainage system morphology | any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins |
| pterygoid bone hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull |
| palate bone hypoplasia | reduced size of the maxillary or palatine shelves that comprise the bones of the hard palate, usually due to reduced cell number |
| vomer bone hypoplasia | underdevelopment of the vomer bone, usually due to a deficiency in the number of cells |
| large cranial foramen ovale | increased size of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingula of the mandible |
| large foramen rotundum | increased size of the circular hole (foramen) in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa |
| abnormal gamma-delta T cell morphology | any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex |
| impaired complement classical pathway | abnormal function of the plasma protein cascade triggered by antigen:antibody complexes |
| impaired contractility of ileal smooth muscle | inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension |
| abnormal submandibular gland physiology | any functional anomaly of either of the large major salivary glands situated beneath the mandible |
| abnormal stress erythropoiesis | any anomaly in the process by which erythroid output is increased in response to anemic stress |
| decreased radius size | less than average size of the short bone of the lateral forearm |
| small vestibular saccule | reduced size of the cavity between the semicircular canals and the cochlea of the inner ear |
| small utricle | reduced size of the larger of the two sacs in the vestibule |
| abnormal redox activity | defect in the processes that maintain the redox environment of a cell or compartment within a cell |
| decreased Langerhans cell number | reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus |
| abnormal brown adipose tissue mass | aberrant physical bulk or volume of brown adipose tissue |
| split notochord | the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia |
| enlarged neurocranium | increased size of the bones of the skull enclosing the brain |
| exocrine pancreatic insufficiency | |
| increased circulating interleukin-16 level | increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes |
| abnormal regulatory T cell physiology | any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function |
| alpha-synuclein inclusion body | formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease |
| midbrain hyperplasia | overdevelopment or increased size, usually due an increased number of cells associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes |
| abnormal portal lobule morphology | any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel |
| abnormal triglyceride level | any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue |
| decreased susceptibility to hyperlipidemia | less likely than normal to develop abnormally high levels of circulating lipids |
| decreased kindling response | fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation |
| small submandibular ganglion | reduced size of the small parasympathetic ganglion of the lingual nerve |
| decreased circulating chloride level | |
| abnormal adrenal gland zona glomerulosa morphology | any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced |
| absent alveolar pores | absence of the openings in the alveolar septum that permit air flow between adjacent alveoli |
| absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| abnormal orbit morphology | any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones |
| impaired osteoblast differentiation | reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| abnormal leukocyte tethering or rolling | anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation |
| hemarthrosis | |
| abnormal aorta endothelium morphology | any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall |
| premature tooth eruption | |
| intracranial aneurysm | |
| abnormal luminal closure | an anomaly in the degree to which (for each species) the uterine epithelium closes over and makes contact with, and secures an implanting blastocyst |
| ambiguous external male genitalia | ambiguous external genitalia in an organism with XY genetic sex |
| decreased sternebra size | reduced average size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| elbow dislocation | Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. |
| adrenergic chromaffin cell hyperplasia | an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion |
| increased ganglioneuroma incidence | greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers |
| increased circulating serum amyloid protein level | elevated levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis |
| increased embryo size | larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) |
| absent oval cells | absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes |
| abnormal oval cell physiology | any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes |
| ectopic pancreatic acinar cells | abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes |
| fused vestibular hair cell stereocilia | coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia |
| adhesive atelectasis | alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia |
| abnormal urine albumin level | anomaly in the amount of albumin in the urine |
| decreased dendritic cell apoptosis | reduction in the timing or the number of dendritic cells undergoing programmed cell death |
| small pituitary intermediate lobe | reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults |
| occipital bone foramen | presence of a hole in the bone at the lower, posterior part of the skull |
| abnormal embryo size | any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis) |
| abnormal neuronal precursor cell migration | any anomaly in the orderly movement of a neuroblast embryonic cell from one site to another during development |
| abnormal body composition | aberrant relative amount and distribution of bone, body fat, muscle or lean tissue mass |
| decreased percent water in carcass | less than the normal total amount of water retained in the body measured post mortem |
| increased core body temperature | increased degree of heat natural to the internal center of a living being |
| abnormal Schwann cell physiology | any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons |
| absent cochlear hair cell stereocilia | complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells |
| absent inner hair cell stereocilia | complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells |
| abnormal cuticular plate morphology | any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project |
| abnormal pyloric sphincter morphology | any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach |
| absent Brunner's glands | absence of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes |
| increased susceptibility to viral infection | greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus |
| abnormal tricarboxylic acid cycle | any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle |
| decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent |
| absent plasma cells | absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin |
| abnormal tracheal smooth muscle morphology | any structural anomaly of the smooth muscle lining the trachea |
| annular pancreas | A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. |
| abnormal dermis papillary layer morphology | any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis |
| abnormal synchondrosis | anomalous or persistent cartilaginous fusion of two bones |
| foramen magnum stenosis | abnormal narrowing or constriction of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata |
| increased brain iron level | increase in the amount of iron present in the brain tissue |
| short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| increased urinary system tumor incidence | greater than the expected number of tumors originating in the urinary system in a given population in a given time period |
| decreased respiration | decrease in the movement of gases into and out of the lung |
| decreased circulating tyrosine level | reduction in the amount per unit of blood of tyrosine |
| hyperresponsive | increased reaction to touch |
| abnormal subthalamic nucleus morphology | any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function |
| abnormal third pharyngeal arch morphology | any structural anomaly of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus |
| short neck | Diminished length of the neck. |
| pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| small thyroid cartilage | size reduction of the largest of the laryngeal cartilages |
| inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| thin malleus neck | smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium |
| monodactyly | having only one toe or digit on each extremity |
| absent hallux | Aplasia of the hallux, that is, a development defect such that the big toe does not develop. |
| absent masseter muscle | absence of the masticatory muscle of posterior cheek |
| absent pterygoid muscle | absence of either the internal or external or of both pterygoid muscles |
| small prostate gland dorsolateral lobe | reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle |
| abnormal ampullary gland morphology | any structural anomaly of the paired accessory, glandular, androgen-dependent outpouchings of the proximal ductus deferens, one on each side, that produce and secrete lipids and glycogen, components of the seminal fluid; they open into the ampullae at the level of the colliculus seminalis, are lined by simple columnar epithelium with large, oval nuclei, and may be distinguished from those of the prostate as they are surrounded by a characteristic, dense, fibromuscular stroma; the epithelium forms longitudinal folds and the glands contain homogeneous, dense, eosinophilic secretions with characteristic holes that impart a Swiss cheese-like appearance |
| short perineum | reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm |
| urinary bladder hypoplasia | underdevelopment or reduced size of the urinary bladder, usually due to a reduced number of cells |
| dilated uterine horn | an expansion in the volume or area of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid |
| abnormal penile bone morphology | any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species |
| small penile bone | size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans |
| uterine cervix hypoplasia | underdevelopment or reduced size of the cervix, usually due to a reduced number of cells |
| absent urinary bladder | absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| abnormal female urethra morphology | any structural anomaly of the short and relatively simple female fibromuscular tubular canal which extends from the urinary bladder outlet to the perineum adjacent to the anterior wall of the vagina, and opens in the vestibule of the vagina posterior to the clitoris and anterior to the vaginal orifice; small mucus urethral glands (Skene's glands) open along its entire length and drain into a single paraurethral duct, which empties at the lateral margin of the external urethral orifice: its epithelial lining changes from transitional epithelium at the bladder end to non-keratinizing stratified squamous epithelium distally |
| urinary bladder cyst | presence of one or more abnormal membranous sacs, usually filled with a fluid or viscous substance, along the internal lining of the urinary bladder |
| vesicovaginal fistula | The presence of a fistula connecting the urinary bladder to the vagina. |
| absent eye pigmentation | absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis |
| increased lysosomal enzyme secretion | production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal |
| decreased metacarpal bone number | reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| decreased metatarsal bone number | reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans |
| prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| hip dislocation | Displacement of the femur from its normal location in the hip joint. |
| decreased cardiac muscle glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| decreased cardiac muscle triglyceride level | less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle |
| thick ears | increased width of the epidermal and cartilaginous tissue that makes up the ear |
| abnormal sacrum morphology | |
| absent xiphoid process | absence of the caudal tip of the sternum |
| abnormal hair cell morphology | any structural anomaly of the sensory epithelial cells of the inner ear |
| abnormal auditory summating potential | any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities |
| long humerus | increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below |
| increased length of long bones | greater end-to-end length of the several elongated bones of the extremities |
| clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| increased circulating phenylalanine level | increase in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin |
| lung cyst | |
| abnormal right renal artery morphology | any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood |
| abnormal urogenital fold morphology | any structural anomaly of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora |
| absent tail bud | missing the primordial region of the embryo that arises to form the tail of the adult |
| abnormal hair shaft melanin granule morphology | any structural anomaly of pigment polymers in the hair shaft |
| enhanced behavioral response to anesthetic | increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent |
| abnormal melanosome maturation | any anomaly in the developmental processes that are required for a melanosome to attain its fully functional state; melanosome maturation occurs through sequential stages (I-IV) that can be defined based on morphology and melanin content; stage I pre-melanosomes are roughly spherical, lack pigment, contain intraluminal vesicles, and resemble multivesicular bodies i.e. structures found along the endosomal pathway; stage II melanosomes are elongated (ellipsoidal) in shape, lack pigment, and contain intraluminal matrix fibers organized in a striated array; deposition of melanin along the matrix fibers begins in stage III melanosomes; stage IV melanosomes, corresponding to fully-melanized mature organelles, are characterized by a dense homogeneous deposit of melanin that covers all the internal structures of the matrix |
| abnormal melanosome size | anomaly in the average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored |
| abnormal enteric cholinergic neuron morphology | any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel |
| chronic constipation | Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. |
| abnormal submucous nerve plexus morphology | any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa |
| anterior polar cataract | A polar cataract that affects the anterior pole of the lens. |
| abnormal lens polarity | failure of normal orientation of the lens during development |
| diencephalon hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the rostral portion of the brain stem |
| cardiovascular system phenotype | the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan |
| increased pancreas iron level | increase in the amount of iron present in the pancreas tissue |
| increased heart iron level | increase in the amount of iron present in the heart tissue |
| decreased activity of parathyroid | |
| increased circulating angiotensinogen level | greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I |
| abnormal glial cell apoptosis | change in the timing or the number of glial cells undergoing programmed cell death |
| reduced AMPA-mediated synaptic currents | reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors |
| enhanced AMPA-mediated synaptic currents | increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors |
| increased bone mineral density of presacral vertebrae | elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum |
| increased bone mineral density of lumbar vertebrae | elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| abnormal Deiters cell morphology | any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities |
| abnormal pigmentation pattern | hair and/or skin coloration shows specific and consistent deviations from an expected display |
| abnormal melanoblast migration | any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells |
| absent gonadotrophs | absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) |
| thick hair follicle outer root sheath | increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb |
| thin hair follicle inner root sheath | reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath |
| abnormal pillar cell differentiation | abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti |
| bowed femur | increased curvature of the long bone of the thigh |
| bowed humerus | A bending or abnormal curvature of the humerus. |
| decreased circulating aspartate transaminase level | less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction |
| increased NK T cell number | greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| abnormal neurohypophysis median eminence morphology | any structural anomaly of the raised area at the infundibular region of the neurohypophysis where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system |
| abnormal response to stress-induced hyperthermia | any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety |
| abnormal circulating lipoprotein level | any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport |
| abnormal retrosplenial granular cortex morphology | any structural anomaly of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation |
| absent facial bone | failure to develop or absence of one or more facial bones |
| midline cleft upper lip | a vertical cleft through the center of the upper lip |
| decreased Descemet membrane thickness | reduced thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea |
| abnormal right lung middle lobe morphology | |
| increased grip strength | greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| abnormal forestomach-glandular stomach junction morphology | any structural anomaly of the distinct low fold of tissue that separates the non-glandular area of the stomach (forestomach) from the glandular stomach; the limiting ridge extends circumferentially from the large curvature of the stomach to the small curvature, just below the esophagus; at the esophagus, the course of the limiting ridge bends into a U-shape and almost surrounds the esophageal opening |
| small forestomach | reduced size of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus) |
| increased retina ganglion cell number | greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain |
| absent amacrine cells | absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer |
| absent retina inner plexiform layer | absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites |
| absent maternal crouching | females do not assume a position over young that facilitates suckling behavior |
| abnormal leukotriene level | abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells |
| oviduct hypoplasia | |
| early exit from anagen phase | anomaly in the growth phase of the hair cycle resulting a shortened anagen phase |
| abnormal circulating interleukin-6 level | anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts |
| abnormal circulating serum amyloid protein level | deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis |
| abnormal sweat gland morphology | any structural anomaly of any of the coil glands of the skin that secrete sweat |
| increased susceptibility to infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens |
| decreased regulatory T cell number | reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity |
| absent uterine NK cells | absence of a natural killer cell subset that is found in the decidua of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy |
| decreased CD8-positive, gamma-delta intraepithelial T cell number | reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| increased susceptibility to Poxviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family |
| split cervical atlas | the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft |
| split cervical axis | the second cervical vertebra (C2) is divided into two branches by a median cleft |
| sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| lamellar cataract | A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. |
| decreased satellite cell number | less than the normal number of unfused cells in muscle that play a role in muscle regeneration |
| increased circulating noradrenaline level | greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| decreased otic epithelial cell proliferation | reduction in the expansion rate of the otic epithelial cell population by cell division |
| decreased urine phosphate level | |
| tongue inflammation | local accumulation of fluid, plasma proteins and leukocytes in the tongue |
| increased vibrissae length | longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| long hair | increased average length of the coat hairs |
| increased guard hair length | increase in the length of the long, straight truncal hairs that contain two air cells in the medulla |
| epithelioid cyst | presence of one or more abnormal membranous sacs in an epithelium |
| increased interleukin-17 secretion | increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors |
| decreased compensatory feeding amount | decreased amount of food consumed after a period of fasting |
| increased mitochondrial fission | increase in the expansion rate of the cellular organelles responsible for energy production by division |
| epidermis stratum spinosum hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance |
| abnormal hippocampus CA2 region morphology | any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input |
| accelerated temporomandibular joint osteoarthritis | earlier onset or more rapid progression of a degenerative condition of the temporomandibular joint that results from breakdown of joint cartilage and underlying bone; erosive lesions and joint space narrowing usually indicate acute or early changes, whereas sclerosis, flattening, subchondral cysts, and osteophytes may indicate late changes |
| delayed liver regeneration | late onset of the renewal, repair, and/or regrowth of liver tissue following injury or disease |
| increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| increased blastoma incidence | |
| abnormal milk ejection | anomaly of the milk ejection reflex in response to suckling during lactation |
| abnormal diapedesis | any anomaly in the passage of a leukocyte between the tight junctions of endothelial cells lining blood vessels, typically the fourth and final step of cellular extravasation |
| abnormal ventral tubercle of atlas morphology | any structural anomaly of the conical ventral projection on the arch of the atlas |
| vertebral body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| abnormal oropharyngeal lymphoid tissue morphology | any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils |
| distended jejunum | an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum |
| abnormal NK cell differentiation | atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells |
| forelimb oligodactyly | congenital condition in which some digits or parts of digits are missing from the autopods of the forelimbs |
| abnormal tailgut morphology | any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening |
| decreased ventral ectodermal ridge size | reduced size of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail |
| decreased thoracic vertebrae number | reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae |
| abnormal decidua basalis morphology | any structural anomaly of the area of uterine endometrium found between the implanted chorionic vesicle and the myometrium; with continued growth of the embryo, the decidua basalis becomes incorporated into the maternal component of the definitive placenta |
| increased susceptibility to dopaminergic neuron neurotoxicity | greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism |
| abnormal splenocyte morphology | any structural anomaly of a cell of the spleen |
| decreased glutathione level | reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine |
| decreased right ventricle systolic pressure | decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries |
| dilated ascending aorta | the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid |
| enlarged cranium | increased size of the cranium |
| long mandible | increased length of the lower bony framework of the mouth where the inferior teeth are held |
| enlarged lumbar vertebrae | increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
| abnormal tendon sheath morphology | any structural anomaly of the membrane that wraps around a tendon; it allows the tendon to stretch and prevents it from adhering to the overlying fascia; tendon sheaths consist of two layers: a fibrous layer, made of tight collagenous tissue, and a synovial layer; the synovial part of the tendon sheath consists of a visceral and parietal layer separated by synovial fluid, which keeps the tendon moist and lubricated |
| enhanced behavioral response to morphine | increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response |
| enlarged parietal bone | increased size of the curved bone forming part of the vault of the cranium |
| abnormal interventricular foramen morphology | any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricle |
| calcified retina | |
| abnormal lamina terminalis morphology | any structural anomaly of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; the median strip of the anterior wall of the prosencephalon, which persists in a relatively unchanged state as the cerebral hemispheres grow out forward beyond the original anterior end of the prosencephalon; in the developed brain, the lamina terminalis remains as the thin rostral wall of the third ventricle, stretching from the bases of the major cerebral commissures (the anterior commissure, the commissure of the fornix, and the rostrum of the corpus callosum) to the dorsal surface of the optic chiasm |
| brain ventricle stenosis | abnormal narrowing or constriction of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| increased circulating glutamine level | increase in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states |
| abnormal mammary gland epithelium physiology | any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion |
| absent Hensen stripe | absence of the dark, nonstriated, V-shaped band (ridge) that is normally found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells |
| abnormal Kimura membrane morphology | any structural anomaly of the thickening of the lower surface of the tectorial membrane into which the hair bundles of the outer hair cells are imbedded |
| abnormal tectorial membrane marginal band morphology | any structural anomaly of the dense thickening of the lateral edge of the tectorial membrane |
| thin lip | lips having a reduced amount of soft tissue |
| fused lips | Lack of separation of the upper and lower lips. |
| small external nares | decreased size of the anterior openings to the nasal cavity |
| abnormal oral cavity morphology | |
| calcified intervertebral disk | process in which the cartilaginous and gelatinous structure found between vertebrae becomes hardened due to deposits of calcium salts |
| increased alkaline phosphatase activity | greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum |
| abnormal enthesis morphology | any structural anomaly of the connective tissue between tendon and bone insertion sites; the area which acts to transmit tensile load from soft tissues to bone; they may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue |
| abnormal chondrocyte proliferation | any anomaly in multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population |
| calcified calcaneal tendon | pathologic deposition of calcium salts in the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone |
| abnormal posterior longitudinal ligament morphology | any structural anomaly of the ligament that runs within the vertebral canal along the posterior aspect of the vertebral bodies; it is attached mainly to the intervertebral (IV) discs and less so to the posterior aspects of the vertebral bodies from C2 (axis) to the sacrum, often bridging fat and vessels between the ligament and the bony surface; it weakly resists hyperflexion of the vertebral column and helps prevent or redirect posterior herniation of the nucleus pulposus of an IV disc; the posterior longitudinal ligament is well provided with nociceptive (pain) nerve endings and is a much narrower, somewhat weaker band than the anterior longitudinal ligament |
| abnormal putamen morphology | any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain |
| abnormal pharyngeal arch mesenchyme morphology | any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures |
| small embryonic epiblast | reduced size of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion |
| descending aorta dilation | widening or enlargment of the lumen of the descending aorta |
| brain aneurysm | |
| enlarged cerebral aqueduct | increased size of the channel in the mesencephalon that connects the third and fourth ventricles |
| abnormal heart layer morphology | any structural anomaly of the laminar structure of the heart |
| descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| increased aorta wall thickness | increased depth of the part of the aorta that encloses the luminal space |
| abnormal thrombopoiesis | abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation |
| abnormal Harderian gland porphyrin secretion | anomaly in the production and/or release of porphyrin(s), the pigment(s) responsible for the red discoloration of ocular and/or nasal discharges in rodents; in rats, protoporhyrin IX accounts for most of the porphyrin produced and stored in the Harderian gland; in some rodents the concentration of porphyrins in the Harderian glands varies according to gender and species, and tends to be higher in females than in males |
| abnormal endocardial heart tube morphology | any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube |
| enlarged popliteal lymph nodes | increased size of the lymph nodes which drain the legs |
| embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| abnormal splenocyte apoptosis | deviation in the number of spleen cells undergoing programmed cell death |
| ectopic cartilage | positional abnormality of cartilage |
| absent incus short process | missing the short limb (crus) of the incus that, normally, fits into a depression (fossa incudis) in the epitympanic recess |
| absent stapes obturator foramen | missing the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes |
| absent ciliary process | absence or loss of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; ciliary processes produce aqueous humor |
| abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of low cuboidal cells and is adjacent to the stroma and continuous with the retinal pigmented epithelium; the inner layer is formed by non-pigmented epithelium, a columnar epithelium, adjacent to the aqueous humor in the posterior chamber and continuous with the retina; these two layers of the epithelium are appositioned in their apical surfaces |
| abnormal retina melanin granule morphology | any structural anomaly of the pigment particles in the retina |
| abnormal rete testis morphology | any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis |
| abnormal spleen marginal zone macrophage morphology | any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation |
| increased enterocyte cell number | greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen |
| abnormal sublingual gland morphology | any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland |
| increased B-2 B cell number | greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells |
| ectopic thalamus | abnormal position of the thalamus |
| increased thyroid gland weight | higher than average weight of the thyroid gland |
| vascular ring | A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. |
| abnormal cervical flexure morphology | any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord |
| exostosis | A hyperostosis that involves formation of new bone on the surface of preexisting bone. |
| abnormal inner hair cell kinocilium location or orientation | inner hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern |
| hydrometrocolpos | Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. |
| increased circulating cysteine level | increase in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 |
| increased total lung capacity | greater volume of air contained in the lungs at the end of maximal inspiration |
| abnormal hyoid bone body morphology | any structural anomaly of the main curve of the hyoid bone, from which the horns extend |
| absent ventral tubercle of atlas | absence of the conical ventral projection on the arch of the atlas |
| decreased circulating angiotensinogen level | less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I |
| decreased Paneth cell number | fewer than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine |
| abnormal Ito cell morphology | any structural anomaly of the fat-storing cells that line the hepatic sinusoids |
| decreased susceptibility to Retroviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus |
| absent enteric neural crest cell | absence or loss of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut |
| wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| small incisors | reduced size of the set of long teeth that are the most anterior and prominent in the jaw |
| absent sperm mitochondrial sheath | absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum |
| abnormal acroplaxome morphology | any structural anomaly of the F-actin-keratin cytoskeletal plate limited by a desmosome-like marginal ring that anchors the developing acrosome to the nuclear envelope and is thought to play a pivotal role in acrosome biogenesis and spermatid head shaping |
| abnormal proacrosomal vesicle fusion | any anomaly in the fusion of the membrane of a proacrosomal vesicle with the membrane of another proacrosomal vesicle to form a single large acrosomal granule at the nuclear surface |
| elongated manchette | increased distance between the perinuclear ring of the manchette and the posterior portion of the spermatid nucleus |
| increased circulating haptoglobin level | increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity |
| Bergmeister's papilla | a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue |
| abnormal thyroid parafollicular C-cell morphology | any structural anomaly of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine |
| abnormal circulating phosphate level | any anomaly in the blood concentrations of the salt or ester of phosphoric acid |
| increased response to stress-induced hyperthermia | greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety |
| abnormal perivascular macrophage morphology | any structural anomaly of macrophages that line the small blood vessels |
| myometrium hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium |
| thymus medulla atrophy | acquired diminution of the inner area of thymus lobules associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| abnormal renal glucose reabsorption | any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron |
| abnormal proestrus | any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina |
| abnormal heart and great vessel attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta |
| increased excitatory postsynaptic current amplitude | increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave |
| fourth pharyngeal arch artery hypoplasia | decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch artery, typically resulting in decreased size |
| glossopharyngeal nerve hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion |
| abnormal conotruncus morphology | any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk |
| absent sixth pharyngeal arch artery | failure to develop or absence of the sixth pharyngeal arch artery |
| absent third pharyngeal arch artery | failure to develop or absence of the third pharyngeal arch artery |
| absent fourth pharyngeal arch artery | failure to develop or absence of the fourth pharyngeal arch artery |
| abnormal palatal shelf size | anomaly in the size of either one or both of the palatal shelves compared to controls |
| increased palatal shelf size | increased size of either one or both of the palatal shelves compared to controls |
| abnormal choriocapillaris morphology | any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye |
| abnormal short-term spatial reference memory | anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location |
| increased mitochondrial DNA content | greater than expected amount of DNA contained within the mitochondria of a eukaryotic cell |
| abnormal aorta tunica adventitia morphology | any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers |
| abnormal thoracic aorta morphology | any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest |
| impaired fibroblast cell migration | failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| increased time of peak ischemic contracture | increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction |
| abnormal inguinal mammary gland morphology | any structural anomaly of either of the two mammary glands located in the inguinal region between the hind legs (mice have a single pair of inguinal mammary glands) |
| abnormal thoracic mammary gland morphology | any structural anomaly of any of the mammary glands located in the thoracic (i.e. pectoral or chest wall) region (mice have two pairs of thoracic mammary glands) |
| increased teratocarcinoma incidence | greater than the expected number of a mixed germ cell neoplasm contaning elements of embryonal carcinoma and teratoma, occurring in a specific population in a given time period |
| cricoid and tracheal cartilage fusion | union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur |
| trachea occlusion | any impediment or blockage of the tube descending from the larynx and branching into the right and left main bronchi |
| abnormal external nares morphology | any structural anomaly of the anterior opening to the nasal cavity |
| epistaxis | Bleeding from the nose. |
| absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| abnormal pH regulation | anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion |
| decreased tooth number | reduction in the number of the bony structures of the upper and lower jaws used in mastication |
| abnormal nerve fiber response | anomaly in the electrophysiological recordings from a single or several nerve fiber(s) |
| abnormal vital capacity | anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration |
| abnormal depression-related behavior | responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli |
| aspiration | Inspiration of a foreign object into the airway. |
| decreased circulating antithrombin level | lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism |
| increased prothrombin time | |
| decreased urine nitrite level | lower than normal amount of nitrite (NO2-) in the urine; suggestive of impaired nitric oxide (NO) release |
| decreased hindbrain size | size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived |
| abnormal premotor cortex morphology | any structural anomaly of the part of the motor cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the premotor cortex influences movements of the face, neck and trunk, and upper and lower extremities |
| enlarged seminal vesicle | increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| absent Z line | missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere |
| absent anterior definitive endoderm | absence of the mesendoderm which first migrates from the node and which gives rise to the gut |
| intestinal/bowel diverticulum | a pouch or sac protruding from the intestinal or bowel wall |
| impaired contractility of jejunal smooth muscle | inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension |
| abnormal GABA-mediated receptor currents | change in the measured amplitude, current density or duration of response to stimulation of GABA receptors |
| absent podocytes | absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane |
| impaired pancreas regeneration | decrease in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease |
| increased spinal cord apoptosis | increase in the number of cells of the neural tube undergoing programmed cell death |
| decreased urine flow rate | reduced volume of urine produced in a specified period of time |
| mammary gland hypoplasia | underdevelopment or reduced size of the mammary gland, usually due to a reduced number of cells |
| decreased urine major urinary protein level | reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| upturned snout | muzzle has a curve or tilt such that the tip points upwards |
| abnormal endoplasmic reticulum morphology | any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells |
| facial muscle atrophy | acquired diminution of facial muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation |
| head mesenchyme hypoplasia | underdevelopment or reduced size of the head mesenchyme, usually due to a reduced cell number |
| ureter stenosis | abnormal narrowing or constriction of the ureter |
| absent kidney cortex | absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration |
| absent kidney medulla | failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form |
| abnormal memory T cell number | deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive |
| absent first pharyngeal arch | absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery |
| abnormal otic pit morphology | any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles |
| delayed rostral neuropore closure | a delay in the fusion of the cephalic neural folds |
| decreased bone stiffness | decrease in material stiffness (N/mm) during elastic deformation |
| abnormal response to novel odor | altered behavioral reaction associated with exposing an animal to a novel odor |
| decreased zigzag hair amount | reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla |
| abnormal salty taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system |
| abnormal sour taste sensitivity | changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system |
| increased interleukin-13 secretion | increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses |
| increased enterocyte apoptosis | increase in the timing or the number of enterocytes undergoing programmed cell death |
| ileum inflammation | |
| increased endoplasmic reticulum stress | increase in in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation may be stimulated by genetic or enviromental factors |
| abnormal thymus lobule morphology | any structural anomaly of the basic structural unit of the thymus |
| enlarged thymus cortex | increased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| abnormal catalase activity | anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O |
| abnormal plasma membrane morphology | any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell |
| visceromegaly | Abnormal increased size of the viscera of the abdomen. |
| abnormal gestational length | anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring |
| abnormal histamine physiology | any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter |
| abnormal internal nares morphology | any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx |
| decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| abnormal liver sinusoidal endothelial cell morphology | any structural anomaly of the endothelial cells that line the hepatic sinusoids, constituting the sinusoidal wall; these represent the most abundant non-parenchymal hepatic cell population, are characterized by the presence of fenestrae clustered in sieve plates and lacking a basement membrane, play roles in filtration, endocytosis, antigen presentation and leukocyte recruitment, and in combination with Kupffer cells, constitute a scavenger system in the body |
| decreased retina rod cell number | reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane |
| abnormal popliteal lymph node morphology | any structural anomaly of the lymph nodes which drain the legs |
| increased interleukin-3 secretion | increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells |
| homogentisic aciduria | excretion of excessive amounts of homogentisic acid (an intermediate in the tyrosine degradation pathway) and its oxidized form (benzoquinoneacetate) in the urine, giving it an unusually dark color on prolonged exposure to air |
| abnormal cholangiocyte morphology | any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts |
| increased cholangiocyte apoptosis | increase in the number of epithelial cells of the bile duct undergoing programmed cell death |
| abnormal cholangiocyte primary cilium morphology | any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen |
| periinsulitis | an accumulation of macrophages, dendritic cells, and B and T lymphocytes in the periductal areas of the pancreas but outside the islet cell areas; often occurs prior to intra-insulitis of the islet cell areas |
| insulitis | a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells |
| increased cell death | increased occurrence of the cessation of function at the cellular level |
| elongated metacarpal bones | increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| embryonic lethality during organogenesis | death anytime between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| decreased circulating interleukin-2 level | reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes |
| increased anterior commissure size | enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle |
| fused molars | union of two adjacent molar teeth in the maxilla and/or mandible |
| decreased susceptibility to hepatic steatosis | less likely than normal to develop hepatic steatosis |
| small sebaceous gland | decreased size of the sebum secreting glands of the hair shaft |
| abnormal left lung morphology | any structural anomaly of the organ of respiration located on the left side of the body |
| abnormal right lung accessory lobe morphology | any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax |
| abnormal right lung caudal lobe morphology | |
| abnormal kidney medullary ray morphology | any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla |
| increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| abnormal renal artery morphology | any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues |
| decreased urine aldosterone level | a reduced amount of aldosterone in the urine compared to the normal state |
| abnormal respiratory function | anomaly in any measure of the processes involved in respiration |
| decreased pulmonary endothelial cell surface | reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell |
| abnormal pulmonary alveolar system morphology | any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma |
| decreased sensitivity to skin irradiation | decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage |
| decreased basophil cell number | lower than average number of basophils as measured by the percent of the total number of leukocytes |
| increased pancreatic acinar cell carcinoma incidence | greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period |
| increased pancreas adenoma incidence | |
| pancreatic acinar hyperplasia | overdevelopment or increased size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to an increased cell number |
| hemorrhagic ascites | the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity |
| coronary artery stenosis | |
| decreased QRS amplitude | reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects |
| abnormal vomeronasal sensory neuron physiology | any functional anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals |
| abnormal vomeronasal sensory neuron morphology | any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals |
| perivascular fibrosis | invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury |
| abnormal interventricular septum membranous part morphology | any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart |
| increased heart right ventricle size | greater than average size of the right ventricle |
| increased fetal cardiomyocyte apoptosis | increase in the number of fetal cardiomyocytes undergoing programmed cell death |
| increased susceptibility to induced aneurysm formation | increased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means |
| disorganized thalamus | derangement of the pattern of thalamic tissues |
| absent frontonasal prominence | absence of the unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout |
| delayed limb development | late onset of the induction and/or differentiation of the limbs |
| abnormal P wave | any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems |
| decreased synaptic glutamate release | reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors |
| abnormal gastroesophageal sphincter physiology | any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach |
| abnormal cerebral blood flow rate | aberrant rate of blood flow in the blood vessels supplying the cerebral hemispheres |
| abnormal pleura morphology | any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity |
| increased circulating atrial natriuretic factor | greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator |
| decreased aerobic running capacity | reduced ability to run at defined speeds and/or distances compared to controls |
| abnormal nerve fiber response intensity | any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) |
| abnormal antigen presentation via MHC class I | anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells |
| aortic sinus aneurysm | |
| abnormal pulmonary neuroendocrine body morphology | any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors |
| decreased hepatoma incidence | less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period |
| aortic elastic tissue lesions | focal pathological changes in the elastic lamella of the muscular layer of the main trunk of the arterial system |
| abnormal aorta tunica intima morphology | any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane |
| abnormal cutaneous microfibril morphology | any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin |
| abnormal alveolar pore morphology | any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli |
| decreased nerve fiber response intensity | reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) |
| abnormal tegmentum morphology | any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct |
| pulmonary embolism | An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. |
| abnormal subclavian artery morphology | any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body |
| abnormal optic chiasm morphology | any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves |
| absent third ventricle | absence of the narrow cleft located inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina |
| absent stomach | absence of the sac-like structure of the digestive canal between the esophagus and the small intestine |
| decreased channel response intensity | reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels |
| increased channel response threshold | increase in the value at which a stimulus first elicits a recordable response recorded from ion channels |
| axonal spheroids | focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions |
| increased B-1b cell number | greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell |
| increased circulating amylase level | greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood |
| decreased blood uric acid level | |
| increased urine hypoxanthine level | an increased amount of hypoxanthine in the urine compared to the normal state |
| increased circulating hypoxanthine level | an increased amount of hypoxanthine in the blood compared to the normal state |
| increased circulating xanthine level | an increased amount of xanthine in the blood compared to the normal state |
| decreased circulating noradrenaline level | less than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| increased glycogen catabolism rate | increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body |
| decreased cell chemotaxis | reduction in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) |
| increased retina cone cell number | greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment |
| large lymphoid organs | increased size of lymphatic tissues |
| decreased mast cell histamine storage | reduced amounts of histamine stored in mast cells |
| decreased mast cell protease storage | reduced amounts of proteolytic enzymes stored in mast cells |
| abnormal behavioral response to amphetamine | anomaly in the behavioral response induced by amphetamine such as induced hyperactivity or stereotypic behavior |
| tricuspid valve stenosis | A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. |
| patent cardiac foramen ovale | incomplete closure of the atrial septum after birth, resulting in a flap or a valve-like opening in the atrial septal wall |
| decreased susceptibility to age related obesity | reduced probability of excessive weight gain that is progressive with age |
| abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
| tricuspid valve regurgitation | |
| abnormal ventricle myocardium morphology | any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle |
| rib fractures | a crack or break in the bones forming the bony wall of the chest |
| abnormal lower incisor morphology | any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw |
| decreased bone mineral density of presacral vertebrae | reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum |
| abnormal optic eminence morphology | any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm |
| abnormal optic pit morphology | any structural anomaly of the depression found on each side of the end of the neural ectoderm (or neural tube) of the embryo; the pit deepens to form the optic vesicle |
| abnormal surface ectoderm morphology | any structural anomaly of the surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm; cells from the surface ectoderm differentiate to form the epidermis; epithelia lining the mouth and nasal cavities; hair follicles and nails; the lacrimal, tarsal, salivary, sebaceous, sweat, and mammary glands, and anterior pituitary gland (adenohypophysis); inner and outer ear structures; the lens, and conjunctival and corneal epithelia; dental enamel; and the apical ectodermal ridge inducing development of the limb buds |
| increased neural crest cell apoptosis | increased number of (any population) of neural crest cells undergoing programmed cell death |
| absent otic pit | absence of the paired depression of thickened otic placode epithelium marking the location of the future otic vesicles |
| enlarged hair follicle melanin granules | increased size of the pigment particles located in the hair follicle |
| abnormal dermal mast cell morphology | any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation |
| abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective tissue; they are secretory epithelial cells characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin |
| increased circulating glutamate dehydrogenase level | increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH |
| abnormal golgi tendon organ morphology | any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension |
| abnormal pacinian corpuscle morphology | any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object |
| abnormal frontal plane axis | any anomaly found in the sum of all electrical currents in the heart during systole |
| fragmented QRS complex | changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave |
| bundle branch block | Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. |
| erythruria | passage of red colored urine |
| erythrodontia | |
| abnormal strial intermediate cell morphology | any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) |
| increased sterol level | greater level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated |
| decreased bile salt level | reduced level of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats |
| abnormal skeletal muscle regeneration | anomaly in the ability to repair skeletal muscle after injury or disease |
| increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| abnormal prevertebral ganglion morphology | any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia |
| increased left ventricle developed pressure | increase in the difference between left ventricular systolic and diastolic pressures |
| abnormal respiratory bronchiole morphology | any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls |
| defective intracellular transport of class I molecules | impaired ability to move major histocompatibility complex class I molecules to the cell surface |
| spleen fibrosis | invasion of fibrous connective tissue into the spleen, often resulting from inflammation or injury |
| decreased adipocyte glucose uptake | reduced ability of adipocytes to take in glucose |
| abnormal circulating leptin level | anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance |
| abnormal circulating chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation |
| abnormal T-helper 17 cell physiology | any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 |
| impaired central nervous system regeneration | decrease in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease |
| abnormal ventricular thrombosis | any anomaly in the formation or presence of one or more thrombi in the ventricles of the heart |
| bilirubinuria | presence of conjugated bilirubin in the urine |
| left atrial isomerism | In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. |
| abnormal hepatic portal vein morphology | any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver |
| impaired luteal cell differentiation | abnormal development of the cells of the corpus luteum of the ovary |
| abnormal mitochondrial matrix morphology | any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation |
| increased lymph node number | greater than the normal number of lymph nodes |
| ocular distichiasis | presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball |
| abnormal thoracic duct morphology | any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins |
| corneal abrasion | scraping away or denuding of the corneal surface |
| increased pulse pressure | increase in the difference between systolic and diastolic blood pressure |
| glomerular capillary congestion | obstruction of the normal flux of blood within the renal glomerular capillaries |
| abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| left-sided isomerism | anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens |
| atrial situs inversus | Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. |
| abdominal situs ambiguus | an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements |
| abnormal circulating adrenaline level | aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| abnormal circulating noradrenaline level | aberrant blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine |
| abnormal solitary pulmonary neuroendocrine cell morphology | any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis |
| increased mesenchymal cell proliferation involved in lung development | increase in the expansion rate of a lung mesenchymal cell population by cell division |
| myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| decreased susceptibility to experimental autoimmune uveoretinitis | reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens |
| axial mesoderm hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord |
| abnormal periorbital region morphology | any structural anomaly of the region around the eye socket |
| abnormal facial muscle morphology | any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch |
| impaired muscle contractility | inability or reduced ability of a muscle to shorten or to develop increased tension |
| abnormal circulating homocysteine level | aberrant amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 |
| retina ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| abnormal retina blood vessel morphology | any structural anomaly of any of the blood vessels supplying the retina |
| retina microaneurysm | focal dilation of arteriocapillary junctions in the retina |
| increased astrocyte number | increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord |
| abnormal blood-retina barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal circulation and tight-junctions between retinal epithelial cells preventing passage of large molecules from choriocapillaris into the retina; the BRB barrier becomes more leaky in patients with diabetic retinopathy |
| abnormal summary potential | anomaly in the electrophysiological recording of the activity of several cells |
| abnormal large intestinal transit time | increase or decrease in the time it takes for a bolus of material to pass through the large intestine |
| abnormal cerebellum dentate nucleus morphology | any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers |
| urethra atresia | closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally |
| rectal atresia | congenital absence, closure, or constriction of the lumen of the terminal portion of the intestinal tube adjacent to the anus, leading to abdominal distention after birth |
| abnormal tail length | any anomaly in the length of tail relative to average of a given reference population |
| bifurcated tail | the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species |
| increased fibroblast cell migration | greater frequency of or more rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| loss of vibrissae | inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors |
| long snout | |
| asymmetric snout | presence of a snout that lacks mirrored identity on either side of the median plane |
| decreased circulating creatine kinase level | a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| decreased circulating lactate dehydrogenase level | reduced blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types |
| abnormal oxygen level | any anomaly in the concentration of the gaseous element that is essential for animal and plant life |
| increased coronary flow rate | elevated rate of blood flow in the blood vessels supplying the heart |
| increased capillary density | increase in the number of capillaries in a given cross-sectional area of a tissue |
| increased urine glycerol level | an increased amount of glycerol in the urine compared to the normal state |
| mastitis | |
| elongated metatarsal bones | increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| elongated vertebral body | increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| abnormal urine nucleotide level | any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates) |
| abnormal liver weight | anomaly in the average weight of the bile-secreting exocrine gland |
| detached otolithic membrane | the otolithic (otoconial) membrane is abnormally detached from the underlying neuroepithelium |
| abnormal septum transversum morphology | any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut |
| abnormal hypodermis muscle layer morphology | any structural anomaly of the skeletal muscle layer in the superficial fascia |
| abnormal retina inner limiting membrane morphology | any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous |
| abnormal basophil physiology | any functional anomaly of the leukocyte that contains granules that stain with basic dyes |
| small thymus cortex | decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| immotile respiratory cilia | failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract |
| abnormal body temperature | deviation in the level of heat natural to a living being |
| absent vagal neural crest cells | absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 |
| fused synovial joints | partial or complete absence of separations containing synovial fluid between bones |
| decreased cellular glucose uptake | reduced ability of a cell to take in glucose from the environment |
| decreased choline O-acetyltransferase activity | reduction in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA |
| increased brain tyrosine 3-monooxygenase activity | greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain |
| increased taurine level | increase in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism |
| increased glycine level | increase in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain |
| abnormal pro-B cell morphology | any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs |
| abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube |
| hyperchlorhydria | increased hydrochloric acid content of the gastric secretions |
| abnormal stomach fundus morphology | any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion |
| decreased brain choline acetyltransferase activity | reduced ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA |
| decreased brain tyrosine 3-monooxygenase activity | reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain |
| decreased threshold for auditory brainstem response | reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system |
| increased Purkinje cell number | greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex |
| weaving | momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position |
| absent cerebellum fissure | absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows |
| abnormal extrahepatic bile duct morphology | any structural anomaly of the passages external to the liver for the conveyance of bile |
| decreased nerve fiber response threshold | reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) |
| decreased paired-pulse ratio | decrease in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession |
| absent palatal taste bud | absence of the palatal taste buds that normally develop in the epithelium of the soft palate without associated papilla structures |
| glomerulus hemorrhage | bleeding in the renal glomerulus |
| abnormal mitochondrial chromosome morphology | any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell |
| decreased tidal volume | less than the normal volume of air inspired or expired during each normal respiratory cycle |
| prolonged HV interval | increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity |
| intraventricular block | absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium |
| increased surfactant secretion | greater production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli |
| abnormal lung-associated mesenchyme development | abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung |
| abnormal parasympathetic nervous system physiology | any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system |
| abnormal QT variability | anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities |
| shortened PQ interval | decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave |
| enlarged frontal bone | increased size of the bone forming the forehead and roof of the eye orbit |
| enlarged nasal bone | increased size of either of two rectangular bone plates forming the bridge of the nose |
| abnormal mammary duct terminal end bud morphology | any structural anomaly of the unique club-shaped epithelial structure that develops at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; terminal end buds (TEBs) consist of an outer layer of undifferentiated myoepithelial progenitor cells (cap cells), and a multilayered inner core of luminal epithelial cells (body) fated to form the walls of the ductal lumen; both layers have high rates of mitosis, consistent with a motile organ dedicated to ductal morphogenesis; TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed |
| abnormal hemoglobin content | deviation from the normal total hemoglobin content in the circulating blood |
| hemophagocytosis | Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. |
| abnormal pancreatic alpha cell mass | anomaly in the total physical bulk or volume of a pancreatic alpha cell compared to the normal state |
| genetic imprinting | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence. |
| increased circulating interleukin-18 level | increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity |
| abnormal cardiomyocyte apoptosis | change in the timing or the number of cardiac muscle cells undergoing programmed cell death |
| increased cardiac muscle triglyceride level | greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle |
| narrow head | a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region |
| increased embryonic neuroepithelial cell proliferation | increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division |
| abnormal tumor latency | anomaly in the expected time of onset of tumor occurrence |
| interrupted aortic arch, type b | complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery |
| abnormal tooth root resorption | pathologic resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms |
| decreased fatty acid oxidation | decreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen |
| abnormal neural crest morphology | any structural anomaly of the specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types |
| abnormal aorta bulb morphology | any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles |
| increased cell migration | increased or faster movement of cells from one site to another, often occurring during developmental or chemotactic processes |
| abnormal aortic valve flow | abnormality impeding normal blood flow or allowing blood to backflow through this valve into the left ventricle |
| abnormal vitamin level | any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function |
| increased macrophage apoptosis | greater incidence of cell death in macrophages |
| abnormal urinary system development | any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine |
| abnormal ophthalmic nerve morphology | any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead |
| abnormal maxillary nerve morphology | any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses |
| increased rhombomere 4 size | increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| rhombomere transformation | homeotic transformation of a specific rhombomere to adopt the fate of another |
| abnormal lambdoid suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones |
| increased forebrain size | greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) |
| abnormal mammary line morphology | any structural anomaly of either of the presumptive bilateral epidermal ridges (milk lines) formed at the onset of mammogenesis and running in an anteroposterior direction ventrally between fore- and hindlimbs, one line along each flank of the embryo; in mouse, mammary gland development begins shortly after mid-gestation (about E10.5); epidermal cells within the milk line become columnar and multilayered, defining a ridge that protrudes above and below the plane of the single-layered primitive epidermis or periderm; by E11.5, five pairs of lens-shaped placodes form along the mammary line at the site of each future nipple |
| wide sagittal suture | an abnormally increased width of the sagittal suture for age-related norms |
| wide metopic suture | an abnormally increased width of the metopic suture for age-related norms |
| cocaine preference | predilection to ingest cocaine over other substances |
| abnormal GABAergic neuron physiology | any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter |
| impaired leukocyte migration | impaired ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV |
| decreased tibialis anterior weight | redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot |
| decreased quadriceps weight | reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint |
| absent gametes | absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote |
| abnormal kidney pyramid morphology | any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex |
| abnormal kidney cortex artery morphology | any structural anomaly of the network of tubes that supplies blood to the renal cortex |
| delayed caudal neuropore closure | a delay in the joining together of the neural folds of the caudal opening of the neural tube |
| abnormal conjunctival epithelium morphology | any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea |
| decreased susceptibility to systemic lupus erythematosus | reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs |
| decreased kidney apoptosis | decrease in the number of cells of the kidney undergoing programmed cell death |
| abnormal dorsal interneuron LA morphology | any structural anomaly of the late-born dorsal interneurons that are roof-plate independent, and are dependent on expression of Ptf1a |
| absent solitary pulmonary neuroendocrine cells | absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis |
| absent pulmonary neuroendocrine bodies | absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors |
| impaired neuron differentiation | decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses |
| abnormal dorsal interneuron morphology | any structural anomaly spinal cord interneurons that arise from the dorsal pool of progenitor cells and are associated primarily with sensory processing |
| abnormal dorsal interneuron 3 morphology | any structural anomaly of the dorsal interneurons that are excitatory, located in the deep dorsal horn and intermediate spinal cord, target motor neurons monosynaptically, have axons projecting rostrally, ipsilaterally, and longitudinally, and are characterized by expression of Acsl1, Gsh2, Brn3a, Tlx3, Isl1, and Drg11 |
| abnormal dorsal interneuron 5 morphology | any structural anomaly of the dorsal interneurons that are roof-plate independent, glutamatergic, somatosensory, project contralaterally, and are characterized by expression of Pax6, Irx3, Dbx2, Ascl1, Lbx1, Tlx3, Lmxb1b, and Brn3a |
| abnormal dorsal interneuron 6 morphology | any structural anomaly of the dorsal interneurons that are roof-plate independent, commissural, inhibitory, and are characterized by expression of Pax6, Pax7, Irx3, Dbx2, Ngn1, Ngn2, Wt1, and Lbx1 |
| abnormal glycogen level | any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle |
| abnormal ocular surface morphology | any structural anomaly of the integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms |
| decreased circulating lactate level | reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| hyperoxia | elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases |
| hypocapnia | Abnormally reduced blood carbon dioxide (CO2) level. |
| decreased liver tumor incidence | less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal NK cell degranulation | anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells |
| abnormal melanosome transport | any anomaly in the directed movement of melanosomes into, out of, within or between cells |
| increased hyoid bone size | greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles |
| abnormal sperm capacitation | anomaly in the change undergone by spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg |
| failure of sternum ossification | failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone |
| premature cranial synchondrosis closure | early fusion or ossification of one or more cranial base synchondroses relative to age- and gender-matched controls; can lead to midface hypoplasia, as seen in patients with specific forms of syndromic craniosynostosis |
| wavy tail | undulations or a sinusoidal shape of the tail |
| large femur head | increased size of the femur head |
| absent erythrocytes | lack of mature red blood cells |
| abnormal small intestinal crypt cell proliferation | anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division |
| increased colon length | increased length of the portion of the large intestine between the cecum and the rectum |
| increased small intestine length | increased length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum |
| branched small intestinal villi | atypical formation of branched tree-like structures in the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; branching may occur in association with increased or ectopic epithelial proliferation |
| increased activity of parathyroid | |
| abnormal vagina morphology | any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse |
| perineal fistula | The presence of a fistula between the bowel and the perineum. |
| vaginal inflammation | |
| abnormal urethra urothelium morphology | any structural anomaly of the epithelial lining of the luminal space of the urethra |
| urethritis | |
| absent clitoral bone | absence of the unique bone located in the clitoris of most mammals except humans |
| female preputial gland hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of any of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents |
| absent telencephalon | absence of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures |
| decreased embryonic tissue cell apoptosis | decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| abnormal malleus manubrium morphology | any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane |
| abnormal malleus processus brevis morphology | any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule |
| abnormal malleus neck morphology | any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium |
| absent hypoglossal canal | absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull |
| styloid process hypoplasia | decrease in the number of normal cells in normal arrangement in the styliod process, typically resulting in decreased size |
| decreased cornea size | reduced average size of one or both corneas; generally refers to a congenital defect |
| parthenogenesis | development of an egg into a diploid embryo without being fertilized |
| abnormal galactose homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues |
| abnormal stomach muscularis externa morphology | any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines |
| decreased circulating glucocorticoid level | less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity |
| abnormal arcus anterior morphology | any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis |
| fourth pharyngeal arch hypoplasia | decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch, typically resulting in decreased size |
| absent retina ganglion cell | absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain |
| absent optic tract | absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region |
| decreased type I pneumocyte number | reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange |
| thin lung-associated mesenchyme | decreased thickness of the mesenchymal cell layer in the developing lung |
| abnormal interdigital cell death | change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits |
| ascending aorta aneurysm | a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall |
| decreased histamine level | reduction in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching |
| increased circulating interferon-beta level | increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity |
| decreased susceptibility to induced aneurysm formation | decreased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means |
| small cranial cavity | reduced size of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid |
| abnormal cranial vertex morphology | any structural anomaly of the midline bony landmark at the most superior part of the calvaria, near the midpoint of the sagittal suture (i.e. between the bregma and lambda) |
| increased fetal weight | increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth) |
| decreased left ventricle diastolic pressure | decrease in the pressure in the left ventricle between heart beats when the heart is relaxed |
| increased skeletal muscle fiber number | increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles |
| abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| abnormal Hensen stripe morphology | any structural anomaly of the dark, nonstriated, V-shaped band (ridge) found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells; Hensen's stripe is continuous with a more external homogeneous basal layer, from which a marginal band of an amorphous substance originates; the marginal net extends from the marginal band and attaches the lateral border of the TM to Hensen's cells of the organ of Corti. Hensen's stripe and the homogeneous basal layers display interruptions through which the fibrillar structure of the TM is visible |
| low sweet preference | subjects demonstrate a low predilection for sweet tasting substances over other offered substances |
| decreased circulating angiotensin II level | reduced concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone |
| increased pituitary gland apoptosis | increase in the number of any cells of the pituitary gland undergoing programmed cell death |
| decreased glutathione peroxidase activity | reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O |
| calcified mitral valve | |
| intervertebral disk hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilaginous and gelatinous structure found between vertebrae |
| abnormal navicular morphology | any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones |
| abnormal elbow joint morphology | any structural anomaly of the joint that connects the forelimb zeugopod and stylopod skeletons |
| mandibular condyloid process hypoplasia | decrease in the number of normal cells in normal arrangement in the mandibular condyloid process, typically resulting in decreased size |
| mandibular coronoid process hypoplasia | decrease in the number of normal cells in normal arrangement in the mandibular coronoid process, typically resulting in decreased size |
| Meckel's cartilage hyperplasia | increase in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in increased size |
| abnormal hip joint morphology | any structural anomaly of the multi-axial, ball-and-socket synovial joint between the femur head and the acetabulum of the innominate bone |
| patellar dislocation | The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. |
| ectopic Paneth cells | abnormal position of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine |
| ventricular fibrillation | Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. |
| abnormal level of surface class I molecules | deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface |
| increased basal cell carcinoma incidence | greater than the expected number of a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis, occurring in a specific population in a given time period |
| gastric gland hyperplasia | increase in the number of normal cells in normal arrangement in the gastric gland, typically resulting in increased size |
| abnormal laryngeal muscle morphology | any structural anomaly of the muscles associated with the larynx |
| abnormal muscle precursor cell morphology | any structural anomaly of cells that will develop into muscle cells |
| atrial septal aneurysm | A bulging of the interatrial septum towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. |
| absent Schlemm's canal | absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation |
| hypoplastic trabecular meshwork | reduced size of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates |
| epididymal cyst | benign growths present in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| abnormal myocardial fiber currents | any anomaly in the electrical currents produced by cardiac ion channels, typically measured using whole-cell patch-clamp techniques |
| abnormal myocardial fiber calcium currents | any anomaly in the electrical currents produced by cardiac calcium ion channels, typically measured using whole-cell patch-clamp techniques |
| abnormal myocardial fiber sodium currents | any anomaly in the electrical currents produced by cardiac sodium ion channels, typically measured using whole-cell patch-clamp techniques |
| abnormal I band morphology | any structural anomaly of the light band on each side of the Z disc (aka Z line), comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; the I band is isotropic to polarized light and contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end |
| abnormal skin sebaceous gland morphology | any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles |
| juxtaglomerular cell hyperplasia | increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa |
| aorta coarctation | |
| dermal hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the dermal layer of the skin |
| abnormal neural crest cell apoptosis | change in the timing or the number of neural crest cells undergoing programmed cell death |
| third pharyngeal arch artery hypoplasia | decrease in the number of normal cells in normal arrangement in the third pharyngeal arch artery, typically resulting in decreased size |
| abnormal extensor digitorum longus morphology | any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle |
| abnormal enteroendocrine cell morphology | any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract |
| pancreatic islet hypoplasia | underdevelopment or decreased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an decreased number of cells |
| increased PP cell number | increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas |
| absent PP cells | absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas |
| decreased pancreatic epsilon cell number | reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin |
| umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| vaginal hemorrhage | bleeding into the vagina |
| abnormal glomerular endothelium fenestra morphology | any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes |
| abnormal vascular endothelial cell differentiation | anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell |
| twin decidual capsule | two embryos share one decidual membrane |
| increased angiotensin I-converting enzyme activity | greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin |
| abnormal bradykinin level | abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability |
| decreased circulating fibrinogen level | reduced levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood |
| stomach hemorrhage | bleeding into the stomach |
| increased urine bicarbonate level | |
| abnormal visual cortex morphology | any structural anomaly of the area of the occipital cortex concerned with vision |
| small popliteal lymph nodes | reduced size of the lymph nodes which drain the legs |
| increased susceptibility to diet-induced hepatic steatosis | more likely than normal to develop diet-induced hepatic steatosis |
| bifid atrial appendage | a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue |
| pulmonary hyperplasia | overdevelopment or increased size, usually due an increased number of cells of the respiratory organ in all or part of the organ |
| abnormal respiratory epithelium morphology | Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. |
| respiratory epithelium hypertrophy | increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material |
| decreased lung elastance | reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance |
| decreased hippocampus volume | decrease from the average range of the hippocampus volume compared to normal |
| absent B-2 B cells | absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells |
| abnormal uterine cervix squamous epithelium morphology | any structural anomaly of the scaly epithelial layer of the cervix |
| increased mammary gland ductal carcinoma incidence | |
| abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| increased inner canthal distance | increased distance between the inner corners (medial canthi) of the eyes where the eyelids meet; may be present without or with ocular hypertelorism (where interpupillary distance is increased) |
| short philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| abnormal internasal suture morphology | any structural anomaly of the cranial suture found between the left and right nasal bones |
| trigonocephaly | Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. |
| absent corneal epithelium | absence of the smooth stratified squamous epithelium that covers the outer surface of the cornea |
| eye hemorrhage | bleeding into the eye |
| abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| decreased circulating atrial natriuretic factor | less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator |
| abnormal gut flora balance | anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host |
| increased circulating lipocalin 2 level | increase in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores |
| abnormal circulating hyaluronic acid level | any anomaly in the amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine |
| abnormal cerebellum anterior lobe morphology | any structural anomaly of the region of the cerebellum that is anterior to the primary fissure |
| ear lobe hypoplasia | |
| abnormal sixth pharyngeal arch morphology | any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles |
| absent phrenic nerve | absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues |
| abnormal cerebellar glomerulus morphology | any structural anomaly of an intertwined cluster of nerve fibers surrounded by glia where mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons |
| abnormal excitatory synapse morphology | any structural anomaly of a synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell |
| abnormal postsynaptic density morphology | any structural anomaly of the electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse |
| short malleus manubrium | reduced length of the handle of the malleus |
| abnormal fetal ductus arteriosus morphology | any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth |
| abnormal single-strand DNA break repair | anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair |
| decreased circulating interleukin-18 level | reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity |
| abnormal axon radial sorting | any anomaly in the process by which immature Schwann cells surround axons of mixed caliber and send cytoplasmic processes that resemble lamellipodia between axons, to progressively choose and segregate the larger axons at the periphery of the bundle |
| prostate gland cyst | presence of one or more benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid |
| abnormal circulating apolipoprotein level | anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex |
| abnormal testis weight | anomaly in the average weight of the male reproductive glands |
| abnormal internal male genitalia morphology | any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands |
| spermatic granuloma | a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium |
| abnormal cremaster muscle morphology | any structural anomaly of the thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve; in females it is represented by only a few muscle loops that envelop the round ligament of the uterus |
| abnormal pancreas mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas |
| abnormal splanchnic mesoderm morphology | any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall |
| absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| abnormal circulating triiodothyronine level | anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland |
| increased angiotensin II level | increased concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone |
| detached Reissner membrane | partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both |
| absent epididymal fat pad | absence of the encapsulated adipose tissue associated with the epididymis |
| broad occipital bone | increased width of the bone at the lower, posterior part of the skull |
| flat occipital bone | abnormal flatness of the bone at the lower, posterior part of the skull |
| defective assembly of class II molecules | impaired production of major histocompatibility complex class II molecules |
| small Rosenthal canal | reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea |
| analgesia | |
| tympanic membrane perforation | |
| abnormal lung compliance | anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure |
| abnormal functional residual capacity | anomaly in the volume of air remaining in the lungs at the end of a normal expiration |
| decreased interleukin-9 secretion | reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells |
| decreased microglial cell number | reduced number of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system |
| abnormal lymphocyte anergy | anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes |
| abnormal vestibular hair cell development | atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear |
| absent Deiters cells | absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities |
| abnormal habituation to a novel odor | anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel odor |
| abnormal response to social novelty | any anomaly in the interaction of an individual with a familiar versus a novel individual of the same species; in mouse the typical behavior is for increased interaction with the novel individual |
| abnormal olfactory behavior | any anomaly in the actions, reactions, or performance of an organism in response to an odor |
| short umbilical cord | Decreased length of the umbilical cord. |
| perianal ulcer | lesion around or near the anus |
| proctitis | Proctitis is an inflammation of the rectum. |
| mitral valve prolapse | A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. |
| ectropion | |
| increased testicular teratoma incidence | |
| gastrointestinal ulcer | any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue |
| duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| esophageal ulcer | a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue |
| abnormal kidney thrombosis | any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the organ of secretion |
| abnormal circulating interferon-gamma level | anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| increased transforming growth factor beta level | greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function |
| absent keratohyalin granules | absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| increased keratohyalin granule number | increased number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| aorticopulmonary septal defect | an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk |
| decreased cell mass | reduction in the total physical bulk or volume of a cell compared to the normal state |
| abnormal mammary gland connective tissue morphology | any structural anomaly of the fibrous supportive tissue of the mammary gland |
| abnormal nephron number | anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis |
| absent retrotympanic process | absence of the posterior extension of the squamosal bone that normally lies just above the incus |
| abnormal pubis body morphology | any structural anomaly of the flattened medial portion of the pubic bone entering into the pubic symphysis; superior and inferior rami extend from it; the body forms one-fifth of the acetabulum, contributing by its external surface both to the lunate surface and the acetabular fossa; its internal surface enters into the formation of the wall of the lesser pelvis and gives origin to a portion of the obturator internus |
| abnormal Rosenthal canal morphology | any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina |
| otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| increased fetal derived definitive erythrocyte cell number | increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins |
| dacryocytosis | presence of teardrop-shaped red blood cells |
| mosaic coat color | a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation |
| increased susceptibility to Riboviria infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm |
| increased podocyte apoptosis | increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis |
| abnormal enteric neural crest cell morphology | any structural anomaly of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; neural crest cells are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) |
| abnormal spinal cord grey matter morphology | any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue |
| abnormal circulating pancreatic peptide level | anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite |
| absent thyroid follicular cells | absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor |
| abnormal thyroid diverticulum morphology | any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor |
| absent endometrium | absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| abnormal kinocilium morphology | any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells |
| external auditory canal stenosis | abnormal narrowing or constriction of the external auditory canal |
| increased pancreas weight | increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream |
| decreased prostate gland weight | reduction in the average weight of the gland in males that secretes part of the seminiferous fluid |
| oily skin | skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance |
| abnormal sodium ion homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment |
| decreased urine albumin level | less than the normal amount of albumin in the urine |
| abnormal mesangial matrix morphology | any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells |
| increased femur compact bone thickness | increased width of the superficial layer of compact bone at the midpoint of the femur |
| decreased keratinocyte adhesion | decreased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment |
| defective assembly of class I molecules | impaired production of major histocompatibility complex class I molecules |
| small endolymphatic duct | reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac |
| abnormal Purkinje cell differentiation | atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex |
| absent tectum | absence or loss of the rostral part of the midbrain roof |
| abnormal gastric surface mucous cell morphology | any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach |
| absence of AMPA-mediated synaptic currents | absence of a measured amplitude, current density or response to stimulation of NMDA receptors |
| increased susceptibility to Hepadnaviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus |
| decreased cochlear hair cell number | decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve |
| thick retina ganglion layer | increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain |
| abnormal synovial joint capsule morphology | any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint |
| abnormal tongue squamous epithelium morphology | any structural anomaly of the scaly epithelial layer of the tongue |
| esophageal inflammation | |
| thick epidermis stratum basale | increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells |
| increased pruritus | abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch |
| nervous system phenotype | the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan |
| decreased mouth size | abnormally decreased size of the mouth |
| oral leukoplakia | A white patch on the oral mucosa that cannot be rubbed off. |
| abnormal oral mucosa morphology | |
| abnormal auditory cortex tonotopy | any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body |
| abnormal fat cell differentiation | abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals |
| abnormal tooth wear | change in the progression or severity of loss of tooth substance, usually resulting from abrasion, attrition and erosion acting singly or concurrently; tooth wear is a normal, age-dependent physiological process that leads to surface loss of dental hard tissues |
| short Tomes' process | decreased length of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel |
| Meibomian gland hypertrophy | increase in the bulk size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate due to cell enlargement |
| Harderian gland hypertrophy | increase in the bulk size, due to cell enlargement, of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane |
| absent mandibular canal | absence of the canal that is normally located within the internal aspect of the mandible and contains the inferior alveolar nerve, artery and the vein |
| absent mandibular foramen | absence of the opening that is normally located on the medial surface of the ramus of the mandible and forms the entrance to the mandibular canal |
| absent mental foramen | absence of the small opening located on the anterior surface of the mandible; normally, the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it |
| abnormal acetabular fossa morphology | any structural anomaly of the roughened depression in the acetabular floor which extends superiorly from the acetabular notch and hosts the ligamentum teres |
| absent subarcuate fossa | missing the irregular depression normally found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus |
| abnormal dendritic cell chemotaxis | anomaly in the movement of a dendritic cell in response to an external stimulus |
| abnormal body fat mass | aberrant fat-containing physical bulk or volume of the body |
| decreased interferon-beta secretion | reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity |
| otocephaly | a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face |
| thick epidermis stratum spinosum | increased thickness of the stratum spinosum; the polyhedral cell layer |
| absent thyroid cartilage | missing the largest of the laryngeal cartilages |
| portal hypertension | |
| absent hindgut | absence of the caudal portion of the primitive digestive tube of the embryo |
| abnormal osteocyte dendritic process morphology | any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface |
| abnormal cochlear labyrinth morphology | any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ |
| decreased lactate dehydrogenase level | reduced level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate |
| thin spiral ligament | reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches |
| abnormal vestibular endolymph physiology | change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential |
| abnormal vestibular endolymph ionic homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph |
| abnormal glycerol level | abnormal level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source |
| decreased circulating alanine level | reduction in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 |
| absent regulatory T cells | absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity |
| abnormal endolymph physiology | any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion |
| decreased endolymph production | reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear |
| short gestation period | decrease in the average duration of a pregnancy |
| increased b-wave amplitude | increase in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram |
| abnormal medium spiny neuron morphology | any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus |
| increased testis apoptosis | increase in the number of cells in testicular tissue undergoing programmed cell death |
| increased susceptibility to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| increased diameter of tibia | increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| spondylolysis | A bone structure disease that involves a defect located_in lumbar vertebral column. |
| anovaginal fistula | an abnormal anatomical passage that connects the anal canal and the vagina |
| small endometrial glands | decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus |
| absent hyoid bone greater horns | absence of the larger and more lateral of the paired processes on either side of the hyoid bone |
| hemifacial hypoplasia | Unilateral underdevelopment of the facial tissues, including muscles and bones. |
| decreased cochlear hair cell stereocilia number | decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells |
| abnormal Hensen cell morphology | any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells |
| joint dislocation | Displacement or malalignment of joints. |
| abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| abnormal carbon dioxide level | anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases |
| abnormal hippocampus granule cell layer | |
| increased urine antidiuretic hormone level | an increased amount of antidiuretic hormone in the urine compared to the normal state |
| increased telomere length | increase in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs |
| impaired ureteric peristalsis | any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder |
| decreased compact bone volume | less than normal amount of space occupied by compact bone tissue in the skeleton |
| phenotypic reversion | wild-type phenotype restored from a previously characterized mutant phenotype |
| increased circulating unsaturated transferrin level | increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test |
| decreased excitatory postsynaptic current amplitude | reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave |
| failure of endochondral bone ossification | failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone |
| absent epiglottis | missing the most superior of the laryngeal cartilages, which is normally found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink |
| long ulna | Increased length of the ulna. |
| long radius | increased length of the short bone of the lateral forearm |
| abnormal follicular B cell physiology | abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen |
| abnormal compact bone thickness | reduced or increased width of the superficial layer of compact bone |
| increased macrophage cytokine production | greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels |
| tooth impaction | cessation of eruption of a tooth caused by a clinically or radiographically detectable physical barrier in the eruption path or by an ectopic position of the tooth; an impacted tooth is one that is unable to fully erupt in its proper location because it is blocked by tissue, bone or another tooth |
| abnormal vertebral articular process morphology | any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae |
| Wormian bones | The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. |
| pale mammary gland | loss of the normal reddish-pink color of mammary gland tissue |
| abnormal mammary gland myoepithelium physiology | any functional anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells or MECs) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; during lactation, MECs contract in response to oxytocin to generate the contractile force required for milk ejection; MECs are involved in all developmental stages of mammary gland morphogenesis, modulating proliferation and differentiation of luminal cells; they take part in the formation of extracellular matrix, synthesizing its components and secreting proteinases and their inhibitors; in addition, MECs are regarded as natural cancer suppressors: they secrete suppressor proteins limiting cancer growth, invasiveness, and neoangiogenesis; MECs are markedly resistant to malignant transformation and they are able to suppress the transformation of neighboring luminal cells |
| increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| pale lung | lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition |
| abnormal renal fat pad morphology | any structural anomaly of the encapsulated adipose tissue associated with the kidney |
| increased susceptibility to diet-induced non-insulin dependent diabetes | increased likelihood to develop diet-induced non-insulin-dependent diabetes |
| abnormal mitophagy | any anomaly in the autophagic process in which mitochondria are delivered to the vacuole and degraded in response to changing cellular conditions |
| increased circulating lipase level | elevated blood level of lipase in the blood, in particular the serum |
| meningomyelocele | |
| short uterine horn | length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet |
| abnormal eye movement | deviation from the normal motility of the visual organs |
| abnormal midbrain roof plate morphology | any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof |
| increased cranium height | increase in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull |
| abnormal primary cilium morphology | any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors |
| wide intermaxillary suture | an abnormally increased width of the anterior median suture between the two maxillae of the upper jawbone for age-related norms |
| abnormal diastema morphology | any anomaly of the space or gap between two adjacent teeth in the same dental arch; in rodents, the diastema is the toothless (edentulous) region that normally separates a continuously growing single incisor from a segment of three molars in each quadrant of the adult jaw; although tooth primordia develop in the rodent embryonic diastema, they undergo apoptosis and regress to ensure that this region remains tooth-free |
| spinal stenosis | A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. |
| abnormal nucleus accumbens morphology | any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances |
| abnormal olfactory bulb periglomerular cell morphology | any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter |
| abnormal copulatory plug deposition | anomaly in the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation; probably acts to prevent subsequent matings by other males |
| small gonial bone | reduced size of the investing bone that lies on the surface of the malleus |
| abnormal cardiac mesenchyme morphology | any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures |
| increased vagal neural crest cell apoptosis | increased number of vagal neural crest cells (NCCs) undergoing programmed cell death |
| abnormal myotube morphology | any structural anomaly of any of the multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse |
| abnormal coronary sinus morphology | any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice |
| decreased circulating glutamine level | reduction in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states |
| abnormal seminal vesicle muscle layer morphology | any structural anomaly of the thick muscular layer of the seminal vesicle consisting of an inner circular and outer longitudinal layer of smooth muscle which contracts during the emission phase of ejaculation to expel seminal vesicle fluid into the prostatic urethra |
| increased susceptibility to Orthomyxoviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family |
| double kidney pelvis | |
| abnormal self tolerance | a defect in the normal lack of response to autologous (self) antigens |
| decreased incidence of tumors by ionizing radiation induction | lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| small brachial lymph nodes | reduced size of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes |
| small axillary lymph nodes | reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region |
| Harderian gland atrophy | acquired diminution of the size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes |
| arachnodactyly | Abnormally long and slender fingers (spider fingers). |
| abnormal H zone morphology | any structural anomaly of the relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; it consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments; within the H zone is a thin dark M line, the attachment site for the thick filaments in the center of the sarcomere |
| abnormal middle cerebral artery morphology | any structural anomaly of the major paired arteries that arise from the internal carotid artery and supply blood to a portion of the frontal lobe and the lateral surface of the temporal and parietal lobes |
| abnormal spleen weight | anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets |
| abnormal phagocyte morphology | any structural anomaly of cells capable of ingesting particulate matter via phagocytosis |
| decreased hepatocyte apoptosis | reduction in the number of hepatocytes undergoing programmed cell death |
| decreased susceptibility to weight loss | smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| abnormal proximal convoluted tubule brush border morphology | any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption |
| abnormal hepatic diverticulum morphology | any structural anomaly of the out-pocket of thickened ventral foregut epithelium adjacent to the developing heart that constitutes the first morphological sign of the embryonic liver |
| abnormal hepatoblast migration | atypical migration of hepatoblasts across the basement membrane of the liver bud and/or invasion of the neighboring septum transversum mesenchyme |
| abnormal metastatic potential | altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it |
| absent exoccipital bone | absence of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young |
| absent temporal bone petrous part | absence of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium |
| decreased prostate gland anterior lobe weight | reduction in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles |
| decreased interleukin-15 secretion | reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 |
| adipose tissue necrosis | morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage |
| increased circulating interferon-alpha level | increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells |
| decreased NK cell degranulation | reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells |
| increased susceptibility to viral infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus |
| abnormal hair follicle regression | abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle |
| sebaceous gland hypertrophy | increase in the bulk size of the sebum secreting glands of the hair shaft due to cell enlargement |
| pigment incontinence | absence of melanin and melanosomes in the epidermis, and accumulation of melanin and melanosome in melanophages in the upper dermis |
| abnormal cerebellum fissure morphology | any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows |
| abnormal fibroblast physiology | any functional anomaly in the cellular physiological processes carried out by a fibroblast cell population |
| abnormal latent inhibition of conditioning behavior | anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus |
| decreased optic chiasm size | decreased size of the optic chiasm |
| Rathke's pouch hypoplasia | underdevelopment or reduced size of Rathke's pouch, usually due to a reduced number of cells |
| decreased heart left ventricle size | less than average size of the left ventricle compared to the average for a particular population |
| thick heart valve cusps | an increase in the heart cusp wall thickness |
| increased gastric adenocarcinoma incidence | |
| abnormal gastrointestinal motility | anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract |
| decreased hormone-sensitive lipase activity | reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate |
| abnormal brown adipose tissue physiology | any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes |
| abnormal brown fat cell differentiation | abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals |
| abnormal brown adipose tissue thermogenesis | any anomaly in the process of heat production in brown adipocytes |
| blind uterus | presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina |
| ureter hypoplasia | underdevelopment or reduced size of the ureter, usually due to a reduced number of cells |
| abnormal ureter urothelium morphology | any structural anomaly of the epithelial lining of the luminal space of the ureter |
| abnormal kidney collecting duct intercalated cell morphology | any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range |
| decreased parametrial fat pad weight | less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament |
| enhanced exercise endurance | improved performance during controlled physical activity |
| constipation | |
| decreased urine ammonia level | a reduced amount of ammonia in the urine compared to the normal state |
| abnormal ammonia homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of ammonia in the fluids and tissues |
| increased myocardial fiber number | increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart |
| abnormal foreskin morphology | any structural anomaly of the loose fold of skin that covers the penis |
| penile hypospadia | a form of male hypospadia where the opening of the male urethra is located on the inferior aspect of the penis |
| decreased circulating methionine level | reduction in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins |
| abnormal retina cone cell inner segment morphology | any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| abnormal cochlear nerve fiber response | anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s) |
| absent lamina terminalis | absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly |
| abnormal circulating testosterone level | anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| increased beta-galactosidase level | increased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides |
| increased muscle weight | greater than average muscle weight |
| abnormal synaptic vesicle exocytosis | anomaly in the fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in impaired release of neurotransmitter into the synaptic cleft |
| abnormal lung weight | anomaly in the average weight of the lung |
| abnormal hair follicle pheomelanosome pheomelanin content | anomaly in the amount or distribution of yellow pigment in the hair follicle |
| abnormal tail tip morphology | any structural anomaly of the distal end of the tail |
| anhidrosis | OMIM mapping confirmed by DO. [SN]. |
| transverse fur striping | presence of stripes of pigmented hair, usually black, of variable degree and location in the coat |
| absent hyoid bone | absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles |
| abnormal neck muscle morphology | any structural anomaly of any skeletal muscle that is part of the cervical (neck) region |
| increased opacity of vitreous body | the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light |
| abnormal line of Schwalbe morphology | any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea |
| abnormal vestibulocollic reflex | any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space |
| anterior cortical cataract | |
| enhanced cochlear frequency tuning | increase in the sharpness of frequency resolution of the cochlea |
| straub tail | condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment |
| abnormal thymus subcapsular epithelium morphology | any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus |
| abnormal circulating antidiuretic hormone level | deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle |
| oblique facial cleft | |
| decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| abnormal nucleus pulposus morphology | any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord |
| absent nucleus pulposus | missing the notochord remnant normally found in the center of the intervertebral disc |
| skeletal muscle hyperplasia | overdevelopment or increased size of the skeletal muscle, usually due an increased number of cells |
| abnormal femur head morphology | any structural anomaly of the highest, globular part of the thigh bone which comprises two-thirds of a sphere and articulates with the acetabulum in the pelvic bone forming the hip joint; the head is attached to the femoral body or shaft by the neck of the femur; its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur |
| abnormal femur neck morphology | any structural anomaly of the flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward |
| short femur neck | decreased length of the femur neck |
| abnormal circulating interleukin level | anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli |
| increased circulating interleukin-17 level | increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors |
| abnormal common bile duct morphology | any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct |
| abnormal mammary gland myoepithelium morphology | any structural anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; in lactating females, milk is produced by luminal cells, secreted into the alveolar lumen and collected in the ducts for expulsion out of the body through the nipple, due to the contractile activity of the basal myoepithelial cells |
| increased volumetric bone mineral density | increase in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests |
| decreased sebocyte cell number | fewer than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| decreased renal fat pad weight | less than average weight of the encapsulated adipose tissue associated with the kidney |
| small cervical lymph nodes | reduced size of the lymph nodes found near the neck and shoulders |
| tau protein deposits | formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders |
| enamel pits | presence of small depressions in the dental enamel |
| increased number of epithelial cell rests of Malassez | increased number of epithelial cell remnants derived from the fragmentation of Hertwig's epithelial root sheath during root development that persist in the periodontal ligament close to the cementum surface |
| increased level of surface class I molecules | greater than normal expression of major histocompatibility complex class I molecules at the cell surface |
| increased skeletal muscle size | greater than average dimensions of one or more of the muscles of the skeleton |
| increased quadriceps weight | increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint |
| increased circulating factor VIII level | greater levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin |
| increased circulating fibrinogen level | greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood |
| decreased prothrombin time | decreased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation |
| hypercoagulability | |
| abnormal keratinocyte proliferation | anomaly in the ability of keratinocytes to undergo expansion by cell division |
| increased colon hamartoma incidence | greater than the expected number of benign focal malformations in the colon in a specific population in a given time period; results from faulty colonic development, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site |
| embryonic lethality between somite formation and embryo turning | death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) |
| abnormal liver iron level | anomaly in the amount of iron present in the liver tissue |
| abnormal primary and secondary palatal fusion | any anomaly in the process by which the primary and secondary palates fuse to form the definite palate |
| absent hair follicle pheomelanosome pheomelanin | yellow pigment is not present in pheomelanosomes of the hair follicle |
| small fontanelles | an abnormally decreased size of one or more fontanelles for age-related norms |
| decreased trabecular bone connectivity density | reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures |
| abnormal temporal bone petrous part morphology | any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium |
| decreased cardiac cell glucose uptake | reduced ability of the cells of the heart to take in glucose |
| decreased mesenteric fat pad weight | less than average weight of the encapsulated adipose tissue associated with the mesentery |
| increased anti-insulin autoantibody level | elevated level of antibodies to insulin present in the sera |
| reversion by viral sequence excision | restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype |
| abnormal cranium size | deviation from the average range of cranium size compared to normal |
| abnormal synaptic physiology | any functional anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means |
| increased skin squamous cell carcinoma incidence | |
| increased keratoacanthoma incidence | greater than the expected number of low-grade skin tumors that originate in the pilosebaceous glands and closely resemble squamous cell carcinoma, occurring in a specific population in a given time period; keratoacanthomas are spontaneously regressing growths that rarely develop into invasive or metastatic carcinoma; in rare instances, multiple keratoacanthomas are associated with a disease process called Muir-Torre syndrome |
| increased cystadenoma incidence | greater than the expected number of a histologically benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed, occurring in a specific population in a given time period; in some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic |
| abnormal extrinsic tongue muscle morphology | any structural anomaly of any of the four paired muscles that originate outside of and insert into the tongue and act to alter the position of the tongue, allowing for protrusion, retraction, and side-to-side movement; these muscles include the genioglossus, the hyoglossus (often including the chondroglossus), the styloglossus, and the palatoglossus |
| periodontal ligament necrosis | morphological changes resulting from pathological death of periodontal ligament tissue; usually due to irreversible damage |
| dilated lymph node medullary sinus | the luminal space of the lymph node medulla is increased in volume or area, usually with an increase in contained fluid |
| decreased interleukin-23 secretion | reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells |
| decreased muscle spindle number | reduced number of the sensory organs in muscle that are involved in the stretch reflex |
| abnormal tendon stiffness | altered ability of tendon to maintain tensile strength and load |
| hypercapnia | Abnormally elevated blood carbon dioxide (CO2) level. |
| large posterior fontanelle | An enlargement of the posterior fontanelle relative to age-dependent norms. |
| hyperoxaluria | Increased excretion of oxalates in the urine. |
| ectopic dopaminergic neuron | abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter |
| absent inner hair cell kinocilia | absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells |
| abnormal susceptibility to atherosclerosis | a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries |
| increased organ of Corti supporting cell number | increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti |
| abnormal bone mineral content | any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area |
| abnormal hippocampus granule cell morphology | any structural anomaly of the small neurons of the hippocampal granule cell layer |
| decreased colliculi size | smaller inferior and superior colliculus |
| abnormal large intestine placement | different location or arrangement of the large intestinal tract |
| accessory spleen | An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. |
| increased cell nucleus count | greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis |
| decreased small intestinal microvillus size | reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold |
| hindbrain hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived |
| abnormal cochlear outer hair cell electromotility | anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC |
| increased interleukin-1 secretion | increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens |
| uterus hypertrophy | increase in the bulk size of the female muscular organ of gestation due to cell enlargement |
| abnormal dendritic spine morphology | any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon |
| abnormal dishabituation | anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added |
| photoreceptor inner segment degeneration | retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region |
| abnormal sensitization to xenobiotic | anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic |
| decreased mitochondrial fission | reduction in the expansion rate of the cellular organelles responsible for energy production by division |
| absent malleus manubrium | absence of the handle of the malleus |
| decreased spinal cord ventral horn cell number | fewer than the expected number of cells in the ventral grey column of the spinal cord |
| increased circulating interleukin-2 level | increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes |
| misaligned sternebrae | abnormal alignment of the sternebrae along the ventral midline |
| increased IgD level | greater than normal immunoglobulin class D level |
| increased Peyer's patch number | greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles |
| aerophagia | excessive swallowing of air or gas |
| abnormal red blood cell deformability | a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress |
| increased head mesenchyme apoptosis | increase in the number of cells of the head mesenchyme undergoing programmed cell death |
| arched palate | abnormally concaved shape to the roof of the oral cavity |
| thin upper lip | upper lips having a reduced amount of soft tissue |
| abnormal chin morphology | any structural anomaly of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw |
| short chin | Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. |
| increased pancreatic islet cell apoptosis | increase in the number of pancreatic islet cells undergoing programmed cell death |
| abnormal endoplasmic reticulum physiology | any functional anomaly of the irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells |
| increased follicle recruitment | greater frequency of the entry of arrested primordial follicles into the pool of growing follicles |
| increased granulosa cell proliferation | increase in the expansion rate of a granulosa cell population by cell division |
| abnormal secondary ovarian follicle morphology | any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers |
| abnormal spinal cord lateral motor column morphology | any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb |
| decreased saturated fatty acids level | reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms |
| impaired gastric peristalsis | |
| absent follicular B cells | absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes |
| pancreatic acinar hypoplasia | underdevelopment or reduced size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to a decreased cell number |
| large penis | enlarged size of the organ of copulation and urination in the male |
| enlarged external male genitalia | increased size of the external masculine genital organs, including the penis and scrotum |
| abnormal sperm annulus morphology | any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity |
| decreased lung endothelial cell proliferation | reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division |
| increased circulating interleukin-1 alpha level | increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active |
| increased colon adenocarcinoma incidence | |
| thick sperm flagellum | increased thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility |
| increased aerobic running capacity | greater ability to run at defined speeds and/or distances compared to controls |
| decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number | a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release |
| decreased cochlear VIII nucleus size | reduced size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures |
| small lymphoid organs | reduced size of lymphatic tissues |
| abnormal left renal vein morphology | any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava |
| abnormal circadian feeding behavior | anomaly in the fluctuation pattern in feeding behavior (amount and instances) that occurs over an approximately 24 hour light/dark cycle |
| increased skeletal muscle triglyceride level | greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue |
| abnormal Cajal-Retzius cell morphology | any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus |
| abnormal radial glial cell endfoot morphology | any structural anomaly of the tip of the elongated basal process that extends from the cell body of a radial glial cell through the entire cortical wall; the tip of the basal process, known as the basal endfoot, attaches to the pial basement membrane |
| supernumerary incisors | more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw |
| ocular rupture | tearing of the tissues of the eye |
| decreased autoantibody level | reduced level of antibodies to self-antigens present in the sera |
| absent adrenal medulla | absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine |
| enlarged adrenocortical cell nuclei | nuclei of the cells of the cortex of the adrenal gland are larger than normal |
| abnormal adrenal chromaffin cell morphology | any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion |
| shortened QT interval | Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). |
| abnormal atrioventricular bundle conduction | anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle |
| enlarged optic nerve | increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies |
| abnormal morula morphology | any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells |
| abnormal adrenergic neuron morphology | any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci |
| abnormal cutaneous/subcutaneous mechanoreceptor morphology | any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin |
| abnormal adrenal gland capsule morphology | any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex |
| abnormal PP cell physiology | any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas |
| abnormal optic fissure morphology | any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk |
| abnormal short-term object recognition memory | anomaly in the short-term memory for objects is established during the first few minutes after training |
| decreased interleukin-3 secretion | reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells |
| abnormal oral epithelium morphology | any structural anomaly of the stratified squamous epithelium that forms part of the oral mucosa and lines the inner aspect of the oral cavity; depending on the mouth region, the epithelium may be non-keratinized or keratinized; non-keratinized squamous epithelium covers the soft palate, inner lips, inner cheeks, and the floor of the mouth, and ventral surface of the tongue; keratinized squamous epithelium is present in the attached gingiva and hard palate as well as areas of the dorsal surface of the tongue |
| absent metoptic pillar | absence of the posterior border of the optic nerve foramen |
| increased melanoma incidence | greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period |
| iodide oxidation defect | thyroid defect in oxidation and organification of iodide |
| abnormal vacuole morphology | any structural anomaly in the closed structures, found only in eukaryotic cells, that are completely surrounded by unit membrane and contain liquid material |
| abnormal kidney iron level | anomaly in the amount of iron present in the kidney tissue |
| stomatocytosis | The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. |
| abnormal regulatory T cell number | deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity |
| impaired behavioral response to nicotine | decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response |
| hyperventilation | Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. |
| decreased forebrain volume | decrease from the average range of forebrain volume compared to normal |
| abnormal ureterovesical junction morphology | any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney |
| abnormal T-helper 17 cell differentiation | atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 |
| abnormal NK T cell morphology | any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments |
| decreased mammary fat pad weight | less than average weight of the encapsulated adipose tissue associated with the mammary gland |
| abnormal vitamin homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function |
| abnormal ependyma motile cilium morphology | any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system |
| abnormal circulating complement protein level | deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| decreased susceptibility to Picornaviridae infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family |
| short ilium | reduced length of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis |
| wide ilium | increased width of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis |
| short temporal bone squamous part | length reduction of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault |
| abnormal circulating triglyceride level | abnormal concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver |
| abnormal pulmonary valve flow | abnormality impeding normal blood flow or allowing blood to backflow through this valve into the right ventricle |
| decreased circulating zinc level | less than the normal concentration of zinc in the blood |
| bronchiolar epithelial hyperplasia | increased size, often due to increased epithelial cell number, of the epithelial layer of the bronchioles |
| lung epithelium hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the epithelial layer of the lung |
| abnormal cranial cavity morphology | any anomaly of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid |
| truncated tail bud | shortened tail bud that terminates in a blunt end (instead of a tapered end) |
| decreased Reichert's membrane thickness | reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm |
| early parturition | the process of labor and delivery in female animals occurs earlier in gestation than expected |
| prolonged ST segment | increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized |
| tumor regression | a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body |
| delayed blastocyst hatching from the zona pellucida | the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, occurs later in development than expected |
| corneal epithelium hypoplasia | decrease in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in decreased size |
| decreased circulating interleukin-10 level | reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation |
| abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence |
| absent hypaxial muscle | absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue |
| decreased circulating interferon-beta level | reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity |
| abnormal susceptibility to Poxviridae infection | any anomaly in the likelihood that an organism will develop ill effects from infection with a single strand DNA virus that replicate entirely in the cytoplasm or from components of or toxins produced by a virus from this Family |
| iris atrophy | Atrophy of the iris. |
| abnormal external carotid artery morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges |
| abnormal tubotympanic recess morphology | any structural morphology of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum |
| abnormal rhombomere boundary morphology | any structural anomaly of the anatomical surface separating the rhombomere segments |
| abnormal otic vesicle morphology | any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear |
| decreased rhombomere 4 size | reduced size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order |
| abnormal ileal goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the ileum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| decreased phenylalanine level | reduction in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin |
| increased birth weight | increase in average weight at birth compared to controls |
| abnormal ceramide level | |
| long limbs | increased average length of the extremities |
| abnormal forced expiratory flow rates | anomaly in the rates of airflow during forced vital capacity determination |
| abnormal middle ear epithelium morphology | any structural anomaly of the epithelial layer of the middle ear |
| increased middle ear goblet cell number | greater than the expected number of goblet cells in the middle ear epithelium |
| abnormal myotube differentiation | any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myotube cell; myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step); then individual myotubes fuse to form bigger myotubes and start to contract |
| abnormal plasmacytoid dendritic cell physiology | any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance |
| decreased circulating interleukin-5 level | reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells |
| abnormal bone collagen fibril morphology | Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. |
| decreased hydroxyproline level | reduction in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix |
| stridor | Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. |
| abnormal interferon-gamma secretion | anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation |
| hypodipsia | abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus |
| small sperm head | reduced size of the head segment of the sperm cell |
| elongated vertebral column | increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| enlarged heart right atrium | increased size of the right upper chamber of the heart |
| abnormal suprachiasmatic nucleus morphology | any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function |
| abnormal aortic sac morphology | any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates |
| adipsia | failure to drink |
| embryonic lethality between implantation and somite formation | death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| superior-inferior ventricles | an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships |
| decreased purine-nucleoside phosphorylase activity | reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate |
| abnormal fibrocartilage morphology | any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks |
| enthesitis | |
| increased small intestine adenocarcinoma incidence | |
| abnormal forehead shape | any anomaly in the characteristic surface outline or contour of the forehead |
| absent forelimb buds | absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) |
| pancreas hyperplasia | |
| increased brown fat cell size | increase in the size of fat cells from the thermogenic form of adipose tissue |
| gastric gland atrophy | acquired diminution of the size of any of the gastric glands, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change |
| disorganized inner root sheath cells | disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle |
| abnormal tooth color | anomaly in the color and shading of the teeth, which normally present in shades of white |
| microdontia | Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. |
| fused teeth | The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. |
| short tooth root | decreased length of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone |
| abnormal Hertwig epithelial root sheath morphology | any structural anomaly of the bilayered epithelial sheath formed from the fusion of the inner and outer enamel epithelia below the level of the cervical margin of the crown; in mammals, HERS is a transient structure and fragments to form the epithelial cell rests of Malassez; HERS cells appear to be involved in the initiation of the root formation process, in root elongation, and in stimulating both cementogenesis and root dentinogenesis |
| abnormal hallux morphology | any structural anomaly of the first or primary digit of the foot |
| enlarged tectum | increased size of the rostral part of the midbrain roof |
| increased luteinizing hormone level | higher than normal levels of LH |
| enlarged first pharyngeal arch | increased size of the first branchial arch |
| Harderian gland hyperplasia | increase in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in increased size |
| decreased nipple number | fewer than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) |
| abnormal forehead morphology | any structural anomaly of the part of the face above the eyes; in human anatomy, the forehead is the fore part of the head, an area of the head bounded by three features, two of the skull and one of the scalp; the top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows while the bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes; the two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond |
| thick nasal septum | Abnormally increased thickness of the nasal septum. |
| decreased circulating amylase level | reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood |
| enhanced spatial learning | enhanced ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| abnormal adrenal gland x-zone morphology | any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females |
| abnormal dorsoventral coat patterning | irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals |
| abnormal mechanoreceptor morphology | anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion |
| abnormal galactolipid level | any anomaly in the concentrations of the glycolipids whose sugar group is galactose and that do not have nitrogen in their composition in the body |
| decreased spinal cord weight | lower than average weight of the spinal cord |
| fused upper incisors | union of two adjacent incisor teeth in the maxilla |
| increased urine microglobulin level | greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine |
| abnormal interleukin-1 secretion | anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens |
| vaginal septum | a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis |
| increased brain copper level | a greater accumulation of copper in the brain tissue compared to controls |
| increased liver copper level | a greater accumulation of copper in the liver tissue compared to controls |
| decreased circulating copper level | less than the normal concentration of copper in the blood |
| increased circulating copper level | greater than normal concentration of copper in the blood |
| increased kidney copper level | a greater accumulation of copper in the kidney tissue compared to controls |
| abnormal neuromere morphology | any structural anomaly of the segments of the developing neural tube |
| entropion | |
| large orbits | increased size of the orbits |
| abnormal nucleolus morphology | any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein |
| increased aortic weight | increase in the average weight of the aorta |
| decreased creatine kinase activity | reduced ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| increased intestine copper level | a greater accumulation of copper in intestinal tissue compared with controls |
| increased Schwann cell number | greater than normal number of cells that sheath the axons of the peripheral nervous system |
| decreased myelin sheath thickness | decrease in the depth of the insulating envelope that surrounds nerve fibers or axons |
| increased primordial germ cell apoptosis | increase in the number of primordial germ cells undergoing programmed cell death |
| abnormal primordial germ cell proliferation | anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division |
| abnormal hair follicle bulb morphology | any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells |
| small Meibomian gland | decreased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate |
| pseudohermaphroditism | |
| abnormal neuronal precursor cell number | deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons |
| abnormal lung endothelial cell migration | anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature |
| increased transitional stage T2 B cell number | greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles |
| abnormal seminal vesicle weight | anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens |
| abnormal epididymis weight | anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| delayed balanopreputial separation | the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurring at a later than expected age; balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat |
| abnormal metestrus | any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed |
| alkalosis | Depletion of acid or accumulation base in the body fluids. |
| hypervolemia | An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. |
| abnormal temporal bone zygomatic process morphology | any structural anomaly of the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone; this process is at first directed lateralward, its two surfaces looking upward and downward; it then appears as if twisted inward upon itself, and runs forward, its surfaces now looking medialward and lateralward |
| absent temporal bone zygomatic process | missing the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone |
| abnormal pluripotent precursor cell morphology | any structural anomaly of the cells that give rise to most types of cells necessary for fetal development |
| absent anus | absence of the lower opening of the digestive tract |
| abnormal circulating ghrelin level | any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems |
| abnormal sperm-egg fusion | any anomaly in the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization |
| decreased response to stress-induced hyperthermia | reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety |
| abnormal frontonasal suture morphology | any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones |
| polar cataract | A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. |
| abnormal visual pursuit | anomaly in the ability to selectively track a moving object |
| increased kidney tumor incidence | greater than the expected number of tumors originating in the kidney in a given population in a given time period |
| uterine cervix inflammation | |
| uraturia | passage of an increased amount of any salt or ester of uric acid (urate) in the urine |
| impaired lectin complement pathway | abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces |
| vagina hypoplasia | |
| increased theca cell number | greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle |
| abnormal volumetric bone mineral density | anomaly of the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests |
| enlarged superior cervical ganglion | increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck |
| decreased P wave amplitude | reduction in the size (height or maximum displacement) of the P wave |
| enhanced megakaryocyte emperipolesis | an increase in the process by which a a megakaryocyte is penetrated by another living cell |
| abnormal choroid vasculature morphology | any structural anomaly of the blood vessels of the choroid |
| wide ribs | an increase in the width of the bones forming the bony wall of the chest |
| abnormal c-wave shape | any anomaly in the graphical representation of the c-wave in the electroretinogram; the ERG c-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them. |
| abnormal gamma-delta T cell number | anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| abnormal long bone internal diameter | anomaly of the cross-sectional distance that extends from one lateral edge of a long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the bone |
| optic canal stenosis | abnormal narrowing or constriction of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery |
| abnormal pro-B cell differentiation | atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs |
| round face | The facial appearance is more circular than usual as viewed from the front. |
| abnormal sternebra number | deviation from the average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum |
| radial glial endfoot detachment | detachment of the radial glia cell endfoot from the pial basement membrane |
| thick placenta labyrinth | increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| decreased circulating pituitary hormone level | less than expected concentration of any of the pituitary hormones found in the blood |
| abnormal immunoglobulin light chain V-J recombination | any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined |
| abnormal hair medulla air spaces | air spaces between septa-forming cells of hair medulla are larger or smaller than normal |
| panniculitis | |
| chronic pancreas inflammation | persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response |
| increased CXCL10 level | increase in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 |
| increased susceptibility to Flaviviridae infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family |
| increased ovary secretion | elevation in the production and/or release of hormones from ovarian tissue |
| abnormal joint mobility | anomaly in the ability to move joints in a full range of motion and with ease |
| abnormal enterocyte cell number | deviation from the normal numbers of enterocytes |
| enlarged ileum | increased size of the portion of the small intestine that extends from the jejunum to the colon |
| enlarged duodenum | increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum |
| abnormal duodenal goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the duodenum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| abnormal jeujunal goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the jejunum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| abnormal kidney size | anomalous physical bulk one or both of the organs responsible for urine secretion |
| patent tricuspid valve | the tricuspid valve remains open during the cardiac cycle |
| dilated pulmonary trunk | the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid |
| increased DN3 thymocyte number | increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. |
| decreased DN4 thymocyte number | reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. |
| abnormal lip morphology | any structural anomaly of the fleshy margins of the mouth |
| depressed nasal bridge | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| short nasal bridge | |
| choanal stenosis | Abnormal narrowing of the choana (the posterior nasal aperture). |
| retina coloboma | |
| increased susceptibility to experimental autoimmune myasthenia gravis | greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits |
| decreased susceptibility to alcohol-induced hepatic steatosis | less likely than normal to develop hepatic steatosis following acute or chronic alcohol administration |
| increased circulating cortisol level | Abnormally increased concentration of cortisol in the blood. |
| decreased chondrocyte apoptosis | reduced number of chondrocytes undergoing programmed cell death |
| abnormal blood vessel endothelium morphology | any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall |
| testicular hemorrhage | bleeding into one or both testes |
| decreased mean platelet volume | Average platelet volume below the lower limit of the normal reference interval. |
| hyperchromic macrocytic anemia | A type of anemia cahracterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. |
| abnormal cortical intermediate zone morphology | any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone |
| decreased subiculum size | decreased size of the subiculum |
| decreased cellular sensitivity to alkylating agents | reduced incidence of cell death following exposure to agents that cause DNA damage |
| increased Sertoli cell phagocytosis | enhanced phagocytic activity of testicular Sertoli cells |
| inguinal hernia | An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. |
| abnormal enamel mineralization | anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the dental enamel |
| abnormal lower incisor color | anomaly in the color and shading of the lower incisors, which normally presents in shades of white |
| abnormal osteoid morphology | any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin |
| increased osteoid thickness | increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts |
| abnormal tooth root development | aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone |
| wide coronal suture | an abnormally increased width of the coronal suture for age-related norms |
| wide lambdoid suture | an abnormally increased width of the lambdoid suture for age-related norms |
| abnormal insulin-like growth factor I level | anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities |
| decreased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity | reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ |
| increased spleen B cell follicle number | increase in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur |
| abnormal hair follicle infundibulum morphology | any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface |
| thin hair follicle outer root sheath | reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb |
| ocular hypotension | |
| decreased trophectoderm cell proliferation | |
| eclabion | A turning outward of the lip or lips, that is, eversion of the lips. |
| abnormal nuclear lamina morphology | any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm |
| abnormal pulmonary respiratory rate | deviation from the normal number of breaths per minute |
| increased keratinocyte migration | increased or faster movement of keratinocyes or their precursors to the appropriate location in the body |
| short vestibular hair cell stereocilia | reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern |
| cardiovalvulitis | local accumulation of fluid, plasma proteins, and leukocytes in one or more valves of the heart |
| early vaginal opening | the opening of the genital canal in a female occurring at an earlier than expected age |
| increased ovarian carcinoma incidence | |
| decreased vagina weight | decrease in the weight of the female reproductive canal located between the uterus and the vulva |
| abnormal T cell apoptosis | change in the timing or the number of T cells undergoing programmed cell death |
| uterus adenomyosis | |
| increased uterus tumor incidence | |
| partial atrioventricular septal defect | |
| absent palatine gland | absence of the salivary gland of the hard palate |
| absent anterior lingual gland | absence of the small glands located near the apex of the tongue on either side of the frenulum |
| abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete lingual lipase initiating the process of lipid hydrolysis in the mouth and empty their serous secretion into the base of the moats around the foliate and circumvallate papillae; their secretion presumably flushes material from the moat to enable the taste buds to respond rapidly to changing stimuli. |
| fused radius and ulna | anomaly of the radius and ulna resulting in some portion of or all the two bones being merged together |
| small snout | decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions |
| abnormal arytenoid cartilage morphology | any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage |
| failure of intramembranous bone ossification | failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed |
| abnormal kidney venous blood vessel morphology | any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation |
| absent sternum body | absence of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus) is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end |
| abnormal triquetrum morphology | any structural anomaly of the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones |
| skin ridges | long raised strips of skin, usually aligned to the proximal-distal axis |
| distended hair follicles | follicles that have swollen or expanded from the skin |
| abnormal Meibomian gland morphology | any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid |
| Meibomian gland cyst | presence of one or more non-malignant fluid-filled cysts in the eyelid area due to non-infectious obstruction or malfunctioning of a Meibomian gland causing extravasation of lipid material in the eyelid soft tissues with focal secondary granulomatous inflammation |
| abnormal DNA replication | any anomaly in the process whereby new strands of DNA are synthesized |
| split vertebrae | any vertebrae or vertebral section that is cleft into two parts |
| abnormal conditioned emotional response | anomaly in an emotional response that has been acquired by conditioning |
| increased lung elastance | faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance |
| abnormal diestrus | any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase |
| increased insulinoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin |
| increased parathyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period |
| increased adrenal gland adenoma incidence | |
| belly blaze | the appearance of a stripe or zigzag of white fur on the ventrum |
| reversion by mitotic recombination | cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles |
| abnormal circulating pituitary hormone level | aberration in the blood concentration of any of the hormones secreted by the pituitary |
| absent theca folliculi | absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle |
| decreased thromboxane level | decreased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) |
| increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| abnormal aortic arch development | anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery |
| adrenal gland hyperplasia | overdevelopment or increased size, usually due to a increased number of cells, of the endocrine glands located above the kidney and responsible for hormone and epinephrine secretion |
| abnormal DNA methylation during gametogenesis | any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established |
| gastrointestinal tract polyps | abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract |
| increased trichoepithelioma incidence | greater than the expected number of benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts, occurring in a specific population in a given time period |
| abnormal B-1a B cell morphology | any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker |
| decreased pancreatic alpha cell mass | reduced total physical bulk or volume of a pancreatic alpha cell compared to the normal state |
| abnormal susceptibility to Herpesvirales infection | any anomaly in the likelihood that an organism will develop ill effects from infection with a linear, double-stranded DNA virus contained within a T=16 icosahedral capsid surrounded by a proteinaceous matrix (tegument) and then by a lipid envelope containing membrane-associated proteins or from components of or toxins produced by a virus from this Order |
| decreased cell death | decreased occurrence of the cessation of function at the cellular level |
| abnormal CD8-positive, alpha-beta T cell number | anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| abnormal atrium endocardium morphology | any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria |
| increased susceptibility to graft versus host disease | greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host |
| abnormal intraepithelial T cell number | reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| abnormal uterine spiral artery morphology | any structural anomaly of the corkscrew-like arteries in premenstrual or progestational endometrium; uterine spiral arteries play a vital role in supplying nutrients to the placenta and fetus, and are thus remodeled into highly dilated inelastic vessels by the action of invading trophoblast (physiological change) |
| insensitivity to growth hormone | no growth response to exogenous growth hormone |
| abnormal rhombic lip morphology | any structural anomaly of the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system |
| increased interleukin-18 secretion | increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity |
| abnormal autophagosome formation | any anomaly in the formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm |
| abnormal dorsal telencephalic commissure morphology | any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure |
| abnormal Paneth cell morphology | any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine |
| abnormal caudal neuropore morphology | any structural anomaly of the temporary opening at the extreme caudal end of the neural tube in early embryos; the posterior neuropore appears before the process of neural tube closure is complete |
| decreased alkaline phosphatase activity | reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum |
| abnormal palatal shelf bone ossification | any anomaly in the ossification of the the osteogenic blastemata of the palatal processes of the maxillary and palatine bones formed in the mesenchyme of the hard palate |
| leukostasis | |
| decreased mature gamma-delta T cell number | reduced number of a mature T cell expressing an gamma-delta T cell receptor complex |
| fecal incontinence | |
| abnormal brain ependyma motile cilium morphology | any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid |
| abnormal brain ependyma motile cilium physiology | any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid |
| abnormal PML bodies | alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis |
| perioral dermatitis | |
| increased neurotransmitter release | increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells |
| absent male inguinal canal | absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum |
| absent peritoneal vaginal process | absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal |
| abnormal erythroblast number | altered number of the nucleated precursor of erythrocytes |
| abnormal Merkel's receptor morphology | any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute |
| abnormal suckling reflex | any anomaly in the ability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin |
| abnormal mastication | any anomaly in the process of biting and mashing food with the teeth prior to swallowing |
| periorbital fullness | Increase in periorbital soft tissue. |
| abnormal ovary size | anomaly in the average size of the female reproductive gland containing the germ cells |
| abnormal tear production | an anomaly in the amount of fluid produced in the eye |
| abnormal Meibomian gland physiology | any functional anomaly of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; dysfunctional Meibomian glands may produce an excessive amount of oil, cause dry eyes, or contribute to blepharitis |
| Meibomian gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; chronic Meibomian gland inflammation can lead to a lump in the eyelid known as a Meibomian gland cyst (aka chalazion) |
| abnormal sex determination | Anomaly of primary or secondary sexual development or characteristics. |
| decreased circulating cystathionine level | reduction in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine |
| posterior cortical cataract | A cataract that affects the posterior part of the cortex of the lens. |
| decreased digit pigmentation | visually detectable dilution of pigment present on the finger or toe surface |
| increased susceptibility to Adenoviridae infection | increase in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus |
| endometrium inflammation | |
| ectopic pituitary gland | a pituitary gland located outside of its normal position |
| ectopic adenohypophysis | |
| abnormal placenta metrial gland morphology | any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates |
| decreased theca cell number | fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle |
| absent digestive secretion | failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system |
| abnormal memory T cell morphology | any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive |
| increased macrophage nitric oxide production | greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels |
| increased rectum adenocarcinoma incidence | |
| increased anal adenocarcinoma incidence | |
| abnormal circulating interferon-beta level | anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity |
| skin atrophy | |
| sebaceous gland hyperplasia | overdevelopment and increased size of the sebum secreting glands of the hair shaft, usually due to an increase in the number of cells |
| delayed exit from anagen phase | anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase |
| abnormal hair follicle ostium morphology | any structural anomaly of any of the openings of the hair follicles through which the hair fibers emerge from the skin |
| decreased cranial neural crest cell number | reduction in the number of neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage |
| increased cranial neural crest cell apoptosis | increased number of cranial neural crest cells (NCCs) undergoing programmed cell death |
| abnormal trunk neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta |
| absent palate bones | absence of both the maxillary and palatine shelves that comprise the bones of the hard palate |
| decreased carbon dioxide production | reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas |
| decreased osteoblast proliferation | reduction in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| abnormal liver perisinusoidal space morphology | any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma |
| abnormal interleukin-1 beta secretion | anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| abnormal interleukin-12 secretion | anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells |
| alobar holoprosencephaly | |
| single external naris | presence of only one anterior opening to the nasal cavity as opposed to the normal two; usually associated with midline facial defects arising from cleavage anomalies |
| decreased serine level | reduction in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group |
| L5 dorsal root ganglion hypertrophy | increased bulk size of L5 spinal ganglion |
| abnormal erythrocyte osmotic lysis | increase or decrease in the ability of RBCs to withstand changes in osmolarity |
| maxillary retrognathia | abnormal posterior-shifted positioning of the upper jaw (maxilla) relative to the facial skeleton and soft tissues |
| saccharin preference | subjects demonstrate predilection for saccharine over other offered substance |
| increased compensatory feeding amount | increased amount of food consumed after a period of fasting |
| abnormal cervical rib | alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly |
| abnormal circulating interleukin-1 beta level | anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane |
| thymus medulla hyperplasia | increase in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in increased size |
| whitened brown adipose tissue morphology | brown adipose tissue displays a morphology more closely resembling white adipose tissue (eg. unilocular lipid droplets, decreased lipid droplet numbers) |
| abnormal maxillary dental arch morphology | any structural anomaly of the dental arch formed by the teeth of the maxilla (upper jaw bone) |
| abnormal maxillary frontal process morphology | any structural anomaly of the upward extension from the body of the maxilla which articulates with the frontal bone; the frontal process has a vertical ridge which constitutes the medial border of the orbit (anterior lacrimal crest); posteriorly it forms the lacrimal groove together with the lacrimal bone; superomedially it is in close contact with the anterior ethmoidal sinuses |
| hypersecretion of adrenocorticotropin | increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex |
| increased lymphoblastic lymphoma incidence | higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei |
| increased thyroid C-cell carcinoma incidence | greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period |
| increased pituitary adenohypophysis tumor incidence | greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period |
| abnormal sympathetic neuron physiology | any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations |
| abnormal circulating interleukin-10 level | anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation |
| abnormal circulating interleukin-4 level | anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| increased circulating interleukin-13 level | increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses |
| subcutaneous edema | accumulation of watery or serous fluid in the subcutaneous region below the skin |
| absent vertebral spinous process | missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments |
| lethality during fetal growth through weaning, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) |
| abnormal olfactory bulb subventricular zone morphology | any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb |
| decreased osteocyte number | reduction in the number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi |
| hemiplegia | |
| absent B-1b cells | absence of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell |
| sublingual gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the small mucin-producing salivary glands located in the floor of the mouth beneath the tongue, anterior to the submandibular gland |
| increased interferon-alpha secretion | increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells |
| increased interferon-beta secretion | increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity |
| round forehead | forehead appearance is more circular than usual as viewed from the front |
| increased gastrocnemius weight | increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles |
| increased IgG2c level | greater than normal immunoglobulin class G2c level |
| brainstem hemorrhage | bleeding into the brain stem |
| abnormal hepatic glucose production | an anomaly in the production of glucose in the liver |
| abnormal resting posture | atypical intentionally or habitually assumed position of the limbs compared to normal carriage when the body is inactive |
| gonial bone hyperplasia | increase in the number of normal cells in normal arrangement in the gonial bone, typically resulting in increased size |
| esophagus hyperplasia | overdevelopment or increased size, usually due an increased number of cells of the esophagus |
| increased fibroblast chemotaxis | increase in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) |
| abnormal b-wave shape | any anomaly in the graphical representation of the b wave in the electroretinogram; the b wave represents the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells |
| abdominal situs abnormality | an abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs |
| absent sclera | absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea |
| arytenoid and cricoid cartilage fusion | union of the arytenoid and cricoid cartilages into one structure, when this fusion does not normally occur |
| increased lactate dehydrogenase level | elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate |
| small cribriform plate | reduced size of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa |
| abnormal shoulder joint morphology | any structural anomaly of the joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone) |
| abnormal obturator foramen morphology | any structural anomaly of the large opening created by the ischium and pubis bones of the pelvis through which nerves and blood vessels pass |
| abnormal acetabulum morphology | any structural anomaly of the large cup-shaped cavity on the anterolateral aspect of the pelvis that articulates with the femoral head to form the hip joint; it is formed by the three bones of the pelvis (the ischium, ilium and pubis) and is the socket portion of the ball-and-socket hip joint |
| abnormal glenoid fossa morphology | any structural anomaly of the shallow, pyriform articular surface located on the lateral angle of the scapula; it is directed laterally and forward and articulates with the head of the humerus |
| abnormal scapular coracoid process morphology | any structural anomaly of the hook-shaped bone structure that projects anterolaterally from the superior aspect of the scapular neck and serves as an important anchor for several tendinous and ligamentous structures |
| abnormal odontoblast morphology | any structural anomaly of the skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell |
| abnormal ameloblast differentiation | any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a functional ameloblast, a tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ of a developing tooth involved with the formation of enamel matrix |
| abnormal outer dental epithelium morphology | any structural anomaly of the layer of cuboidal cells located on the periphery of the enamel organ in a developing tooth; this layer is first seen during the bell stage |
| abnormal enamel cord morphology | any structural anomaly of the transient structure of the dental (enamel) organ present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts |
| nephron necrosis | morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage |
| thyroid gland cyst | presence of one or more fluid-filled cavities (cysts) in the thyroid commonly resulting from degenerating thyroid adenomas; thyroid cysts are usually benign, but they occasionally contain malignant solid components |
| increased gland tumor incidence | greater than the expected number of tumors originating in a gland in a given population in a given time period |
| increased parathyroid gland tumor incidence | greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period |
| increased bronchioalveolar stem cell number | greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury |
| abnormal RR interval | anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate |
| absent P wave | absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions |
| abnormal kidney collecting duct principal cell morphology | any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed |
| increased white fat cell lipid droplet size | increase in the size of the single large lipid droplet or vacuole of white fat cells |
| abnormal parotid gland morphology | any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear |
| increased lung non-small cell carcinoma incidence | greater than the expected number of a heterogeneous aggregate of at least three distinct histological types of lung cancer, occurring in a specific population in a given time period |
| aciduria | Ecretion of urine with an acid pH. |
| high forehead | An abnormally increased height of the forehead. |
| enlarged Meckel's cartilage | increased size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments |
| abnormal luteinizing hormone level | aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary |
| abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| uterus atresia | congenital absence of the normal opening or lumen of the uterus |
| absent semicircular canal ampulla | absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals |
| impaired mucociliary clearance | reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands |
| increased lung tissue damping | increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues |
| decreased respiratory motile cilia number | reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract |
| decreased fatty acid beta-oxidation | decreased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) |
| increased vascular endothelial cell adhesion | greater than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment |
| absent distal visceral endoderm | absence of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo |
| decreased urine glycerol level | a reduced amount of glycerol in the urine compared to the normal state |
| increased urine progesterone level | an increased amount of progesterone in the urine compared to the normal state |
| decreased urine corticosterone level | a reduced amount of corticosterone in the urine compared to the normal state |
| increased urine deoxycorticosterone level | an increased amount of deoxycorticosterone in the urine compared to the normal state |
| abnormal peripheral T cell anergy | any anomaly of the processes of T cell anergy that occur outside the thymus |
| delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| eye bleb | presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood |
| thin adrenal cortex | reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone |
| enlarged adrenal medulla | increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells |
| abnormal channel response intensity | any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels |
| abnormal peritoneum morphology | any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen |
| increased tubuloglomerular feedback response | enhancement of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa |
| abnormal tubuloglomerular feedback response | any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa |
| abnormal professional antigen presenting cell morphology | any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response |
| whorled hair | an area of hair growing opposite in direction to the rest of the hair, a curl or swirl |
| decreased keratinocyte apoptosis | reduction in the number of keratinocytes undergoing programmed cell death |
| enhanced gluconeogenesis | increase in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol |
| absent aortic valve cusps | absence of the three fibrous triangular components and associated flaps of the aortic valve |
| absent pulmonary valve cusps | absence of the three fibrous triangular components and associated flaps of the pulmonary valve |
| absent optic disk | absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
| abnormal nasomaxillary suture morphology | any structural anomaly of the cranial suture found between the nasal bone and the frontal process of the maxilla |
| abnormal osteoblast proliferation | anomaly in the ability of osteoblasts to undergo expansion by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| titubation | Nodding movement of the head or body. |
| enhanced cued conditioning behavior | increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| decreased anti-insulin autoantibody level | reduced level of antibodies to insulin present in the sera |
| sternum hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the sternum |
| down-turned corners of mouth | the lateral points of the oral cavity opening appear in a lower position that the rest of the lips |
| downturned snout | muzzle has a curve or tilt such that the tip points downwards |
| abnormal B lymphocyte antigen presentation | anomaly in the ability of B lymphocyte to process and/or present antigen |
| decreased brown fat cell number | reduction in the number of fat cells from the thermogenic form of adipose tissue |
| abnormal dermal pigmentation | anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment |
| increased circulating D-dimer level | increased concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; elevations can occur as a result of thrombotic disease (such as deep-vein thrombosis, pulmonary embolism or disseminated intravascular coagulation), in vasoocclusive crisis of sickle cell anemia, in malignancies, and in surgery |
| elliptocytosis | hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape |
| adrenal gland cyst | presence of fluid-filled usually benign growths in the adrenal gland |
| abnormal maternal grooming | females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring |
| decreased partial thromboplastin time | decreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways |
| increased circulating factor IX level | increase in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 |
| increased circulating factor XI level | increase in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade |
| abnormal plasma membrane sphingolipid content | altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis |
| increased plasma membrane sphingolipid content | abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis |
| abnormal nasal septum cartilage morphology | any structural anomaly of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities |
| absent cricoid cartilage | missing the most inferior of the laryngeal cartilages |
| abnormal lipid oxidation | anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen |
| meiotic nondisjunction during M1 phase | abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes |
| absent basioccipital bone | absence of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young |
| abnormal lean body mass | anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue |
| cardiac valve regurgitation | the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation |
| decreased hyoid bone size | reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles |
| wheezing | |
| nasal inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages |
| abnormal fetal liver hematopoietic progenitor cell morphology | any structural anomaly of a hematopoietic stem cell that resides in the fetal liver |
| absent bone trabeculae | absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force |
| coxa vara | Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. |
| increased T-helper cell number | increase in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells |
| increased areal bone mineral density | increase in the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests |
| increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| abnormal sleep behavior | any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity |
| orotic acid urinary bladder stones | presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection |
| decreased ornithine level | reduction in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis |
| abnormal pharyngeal muscle morphology | any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus |
| diastematomyelia | |
| absent hair follicle dermal papilla | absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts |
| increased tibialis anterior weight | increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot |
| abnormal interleukin-4 secretion | anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells |
| increased renal glomerulus lobularity | distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance |
| abnormal base-excision repair | any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase |
| absent subcommissural organ | absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin |
| decreased mammary gland epithelial cell proliferation | decrease in the expansion rate of the cells of the mammary gland epithelium by cell division |
| absent late pro-B cells | absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain |
| abnormal transitional stage B cell morphology | any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection |
| decreased memory B cell number | reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin |
| abnormal memory B cell differentiation | atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin |
| bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| abnormal stomach cardiac region morphology | any structural anomaly of the stomach region where the esophagus empties into the stomach |
| insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| increased urine dopamine level | an increased amount of dopamine in the urine compared to the normal state |
| increased urine noradrenaline level | an increased amount of noradrenaline in the urine compared to the normal state |
| decreased urine noradrenaline level | a reduced amount of noradrenaline in the urine compared to the normal state |
| abnormal regulatory T cell morphology | any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function |
| abnormal hippocampus CA4 region morphology | any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus |
| abnormal neural tube marginal layer morphology | any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter |
| abnormal central nervous system regeneration | changes in the ability or inability of healthy central nervous system tissue to regenerate following injury or disease |
| fast extinction of fear memory | enhanced ability to extinguish aversive memories associated with a traumatic incident |
| minimal clonic seizures | seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension |
| increased serine level | increase in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group |
| abnormal T cell receptor delta chain V(D)J recombination | any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined |
| abnormal head size | anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
| sloping forehead | Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. |
| abnormal T cell anergy | any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction |
| decreased transforming growth factor beta level | reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function |
| small forehead | The presence of a forehead that is abnormally small. |
| increased myeloid dendritic cell number | greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses |
| abnormal mammary gland pattern | aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species |
| increased mammary gland number | greater than the expected number of the specialized accessory gland of the skin of mammals that secretes milk |
| increased nipple number | greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) |
| ectopic nipples | abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open |
| ectopic mammary gland | one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement |
| abnormal temporal lobe morphology | any structural anomaly of the lower lateral part of the cerebral hemisphere |
| decreased frequency of paradoxical sleep | decreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| abnormal intraepithelial T cell morphology | any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| absent lateral ventricles | absence of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; lateral ventricles are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle |
| decreased intestine length | reduced length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions |
| abnormal perilymph physiology | change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid |
| abnormal T cell receptor gamma chain V-J recombination | any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined |
| increased hippocampus volume | deviation from the average range of the hippocampus volume compared to normal |
| increased erythroblast number | greater number of the nucleated precursor of erythrocytes |
| decreased pons size | decreased size of or number of the nerve fibers in the pons |
| decreased small intestine length | reduced length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum |
| abnormal habituation to a new environment | anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment |
| increased somatotroph cell size | excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin |
| increased skeletal muscle weight | greater than average skeletal muscle weight |
| abnormal cilium morphology | any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole |
| abnormal PP cell morphology | any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas |
| abnormal pancreatic epsilon cell morphology | any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin |
| abnormal pancreatic endocrine progenitor cell physiology | any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells |
| iris synechia | an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma |
| small notochord | reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia |
| abnormal posterior definitive endoderm morphology | any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine |
| decreased femoral fat pad weight | less than average weight of the encapsulated adipose tissue associated with the femur |
| abnormal seminiferous tubule size | alteration in the diameter of the tubules in the testes where spermatogenesis occurs |
| abnormal granulosa cell apoptosis | change in the timing or the number of granulosa cells undergoing programmed cell death |
| abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| increased desmoid tumor incidence | |
| increased mammary adenoacanthoma incidence | higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland |
| increased urine magnesium level | |
| persistent oronasal membrane | failure of the oronasal membrane to rupture during development leading to choanal obstruction |
| absent testis cords | missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence |
| decreased pulse pressure | decrease in the difference between systolic and diastolic blood pressure |
| abnormal conjunctiva goblet cell number | aberration in the number of the mucin-secreting cells found on the conjunctival epithelium; changes in goblet cell numbers are associated with alterations in tear mucin level |
| abnormal acrosome reaction | abnormality in the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte |
| persistent hyaloid artery | incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla |
| abnormal eye vasculature morphology | any anomaly of the structure or arrangement of blood vessels supplying the eye |
| increased urine ammonia level | a greater amount of ammonia in the urine compared to the normal state |
| decreased urine citrate level | less than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle |
| decreased plasma anion gap | less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma |
| abnormal mast cell degranulation | abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell |
| abnormal PR interval | anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex |
| abnormal aorta elastin content | anomaly in the physical amount of elastin in the aorta compared to the normal state |
| abnormal dermis reticular layer collagen network | an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin |
| decreased mammary gland tumor incidence | less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period |
| abnormal aqueous humor | anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye |
| optic nerve cupping | concave shape of the nerve often as a result of the force of pressure from glaucoma |
| enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| mature cataract | |
| hypopyon | |
| hyphema | Bleeding in the anterior chamber of the eye. |
| abnormal keratohyalin granule morphology | any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function |
| increased dendritic epidermal T cell number | increase in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing |
| increased Langerhans cell number | increase in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus |
| increased small intestinal crypt cell apoptosis | increase in the number of small intestinal crypt cells undergoing programmed cell death |
| decreased brain blood flow rate | reduced rate of blood flow in the blood vessels supplying the brain |
| cranial bossing | abnormal prominence or protrusion of various bones of the skull; most often occurs in the frontal bones beneath the forehead |
| abnormal trabecular bone thickness | anomaly in the width of bone that has a lattice-like or spongy structure |
| absent temporomandibular joint disk | missing the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion |
| pinhead sperm | a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit |
| enlarged epididymis | increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens |
| abnormal neuron number | anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses |
| abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| coronal suture sclerosis | an increased density in the coronal suture following obliteration |
| lambdoid suture sclerosis | an increased density in the lambdoid suture following obliteration |
| sagittal suture sclerosis | an increased density in the sagittal suture following obliteration |
| abnormal copulation | an anomaly in sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg |
| increased acetylcholine level | greater than the normal amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues |
| decreased susceptibility to Flaviviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus |
| decreased susceptibility to Flaviviridae infection induced morbidity/mortality | decreased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family |
| enhanced blood-brain barrier function | increased ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood |
| abnormal behavioral response to anesthetic | anomaly in the behavioral changes that follow exposure to an anesthetizing agent |
| small ethmoid bone | reduced size of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits |
| abnormal blood osmolality | anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility |
| abnormal L4 dorsal root ganglion morphology | any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra |
| abnormal abdominal aorta morphology | any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs |
| abdominal aorta aneurysm | a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall |
| abnormal laryngeal mucosa goblet cell morphology | any structural anomaly of the epithelial cells lining the larynx, which produce mucins |
| absent respiratory mucosa goblet cells | absence of the cells of the respiratory epithelial lining that produce and secrete mucins |
| dilated nephron | stretched or widened aperture of the luminal space of the filtering unit of the kidney |
| small floor plate | reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube |
| abnormal foam cell morphology | any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow |
| abnormal kidney outer medulla outer stripe morphology | any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region |
| abnormal B cell selection | anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival |
| thick retina inner plexiform layer | increased thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites |
| increased urine prostaglandin level | |
| decreased osteoid volume | reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts |
| decreased osteoid thickness | reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts |
| abnormal cerebellum hemisphere lobule morphology | any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates |
| increased fetal cardiomyocyte proliferation | increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division |
| increased Paneth cell number | greater than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine |
| increased interleukin-1 alpha secretion | increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active |
| epidermis stratum granulosum hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis |
| decreased adipose tissue glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in adipose tissue |
| adenohypophysis peliosis | presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland |
| adenohypophysis hypertrophy | increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement |
| increased alimentary system tumor incidence | greater than the expected number of tumors originating in the alimentary system in a given population in a given time period |
| phimosis | |
| abnormal neural tube mantle layer morphology | any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates |
| foam cell reticulosis | an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow |
| polyspermy | increased incidence of fertilized oocytes fused with two or more sperm due to reduced ability or inability to prevent fertilization by multiple sperm during the egg activation process; normally only a single sperm fuses with the egg plasma membrane and injects its nucleus and other organelles into the egg cytoplasm; if more than one sperm fuses, multipolar or extra mitotic spindles are formed, resulting in faulty segregation of chromosomes during cell division; nondiploid cells are produced, and development usually stops |
| abnormal sublingual duct morphology | any structural anomaly of the canals that drain the sublingual gland |
| submucous cleft palate | |
| abnormal cerebellum vermis lobule I morphology | |
| abnormal secondary polar body morphology | any structural anomaly of the small cell formed by the second meiotic division of oocytes; in mammals, the second polar body may fail to form unless the ovum has been penetrated by a sperm cell |
| absent fourth pharyngeal arch | absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus |
| absent nasal cavity | absence of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa |
| abnormal perichondrium morphology | any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage |
| abnormal periosteum morphology | An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. |
| abnormal olecranon morphology | any structural anomaly of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow; while the olecranon is an attachment site for several muscle groups including the flexor carpi ulnaris and anconeus, the major muscle attachment is that of the triceps brachii muscle |
| abnormal submandibular ganglion morphology | any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands |
| abnormal sublingual ganglion morphology | any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland |
| large mandible | increased size of the lower bony framework of the mouth where the inferior teeth are held |
| increased vertical stereotypic behavior | increase in the frequency of vertical crossings (greater than one per second) |
| abnormal long lived plasma cell morphology | any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow |
| abnormal urine organic cation level | any change in the amount of organic cations in the urine |
| phthisis bulbi | Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. |
| abnormal ilium wing morphology | any structural anomaly of the large, expanded (wing-like) portion of the ilium which bounds the greater pelvis laterally |
| abnormal iliac crest morphology | any structural anomaly of the superior border of the wing of ilium and the superolateral margin of the greater pelvis; it runs from the anterior superior iliac spine to the posterior superior iliac spine; many of the important abdominal and core muscles are attached to the iliac crest |
| increased cornea size | increased average size of one or both corneas |
| absent Purkinje cell layer | there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells |
| decreased renal vascular resistance | less than the normal force opposing blood flow in the kidney blood vessels |
| increased urine nitrite level | higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates |
| abnormal lung lobe morphology | any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) |
| abnormal pinna cartilage morphology | any structural anomaly of the elastic cartilage component of the auricles |
| decreased dendritic spine density | decrease in the number of dendritic spines in a given cross-sectional area of a dendrite |
| decreased lymphatic vessel endothelial cell number | reduced number of the cells that line the lymphatic vessels |
| abnormal susceptibility to weight gain | anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake |
| shortened QRS complex duration | decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart |
| shortened HV interval | decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity |
| decreased circulating ghrelin level | less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland |
| uveal coloboma | congenital defect of the uvea in which some part of the structure is absent |
| increased ovulation rate | disease cluster belonging to disease group reproduction |
| increased superovulation rate | increased ability of a female to be induced to ovulate resulting in greater than the expected number of ova after treatment with specific gonadotrophic hormones |
| enhanced female fertility | increased physiological ability of a female organism to produce live offspring |
| abnormal conditioned place preference behavior | anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment |
| decreased interleukin-1 secretion | reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens |
| decreased acetylcholinesterase activity | decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate |
| abnormal urine sodium level | any change in the amount of sodium in the urine |
| abnormal piriform cortex morphology | any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions |
| abnormal adipose tissue development | anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue |
| abnormal lymphatic vessel smooth muscle morphology | any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels |
| abnormal mandibular nerve morphology | any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini |
| hyperpnea | breathing that is deeper and more rapid than normal |
| abnormal endocrine pancreas physiology | any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans |
| absent aorticopulmonary septum | absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta |
| impaired cardiac neural crest cell differentiation | abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands |
| delayed skin barrier formation | slowed progression in the establishment of the ability of the skin to regulate water loss |
| glossopalatal ankylosis | presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge |
| decreased pancreas iron level | reduction in the amount of iron present in the pancreas tissue |
| decreased heart iron level | reduction in the amount of iron present in the heart tissue |
| pyelitis | |
| abnormal urine urea nitrogen level | any change in the amount of nitrogen in the form of urea in the urine |
| increased urine insulin level | a greater amount of insulin in the urine compared to the normal state |
| abnormal bronchial provocation | anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions |
| abnormal Sertoli cell phagocytosis | altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells |
| decreased lung fibroblast proliferation | reduction in the expansion rate of a lung fibroblast cell population by cell division |
| abnormal embryonic cloaca morphology | any structural anomaly of the endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm |
| increased cellular hemoglobin content | increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume |
| striated fur | hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth |
| neurofibrillary tangles | Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. |
| abnormal cerebellum vermis lobule IX morphology | |
| abnormal cerebellum vermis lobule X morphology | |
| abnormal Golgi vesicle transport | any anomaly in the directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles |
| increased interleukin-21 secretion | increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells |
| decreased T follicular helper cell number | reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production |
| decreased T-helper 17 cell number | reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 |
| decreased respiratory mucosa goblet cell number | reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins |
| decreased stereotypic behavior | less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful |
| abnormal descending aorta morphology | any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries |
| coughing | |
| sneezing | The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT. |
| rhinosinusitis | |
| abnormal cranial cartilage morphology | any structural anomaly of any cartilage element that is part of the cranial skeleton |
| abnormal hair follicle physiology | any functional anomaly of the invagination of the epidermis from which the hair shaft develops |
| brain vascular congestion | obstruction of the normal flux of blood within the blood vessel network of the brain |
| ectopic cortical neuron | appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found |
| decreased neocortex size | size reduction or truncation of the neocortex |
| decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| increased jejunum adenocarcinoma incidence | higher than normal incidence of a malignant neoplasm of epithelial cells in the jejunum |
| decreased skeletal muscle size | less than average dimensions of one or more of the muscles of the skeleton |
| abnormal ischiofemoral ligament morphology | any structural anomaly of the triangular band of strong fibers on the posterior side of the hip joint; its fibers span from the ischium at a point below and behind the acetabulum to blend with the circular fibers at the posterior end of the joint capsule and attach at the intertrochanteric line of the femur |
| abnormal iliofemoral ligament morphology | any structural anomaly of the strong triangular ligament that is attached by its apex to the anterior inferior spine of the ilium and acetabular margin and by its base to the intertrochanteric line of the femur; it stabilizes the hip joint and limits extension and lateral rotation of the hip |
| increased osteochondroma incidence | greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones |
| increased circulating bicarbonate level | elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood |
| abnormal pineal gland morphology | any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels |
| ductus venosus stenosis | narrowing of the lumen of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood |
| absent abducens nerve | absence of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye |
| cerebral infarct | a necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors |
| abnormal follicle stimulating hormone level | anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| increased Descemet membrane thickness | increased thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea |
| decreased circulating unsaturated transferrin level | reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test |
| abnormal Q wave | any anomaly in the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum |
| abnormal liver size | anomaly in the average size of the liver |
| abnormal placenta physiology | any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin |
| sutural cataract | A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. |
| abnormal saccharin consumption | subjects demonstrate interest in ingesting saccharine |
| decreased catalase activity | reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O |
| abnormal T cell receptor alpha chain V-J recombination | any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined |
| increased salivary adenocarcinoma incidence | |
| abnormal oval cell morphology | any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes |
| abnormal angiotensin I-converting enzyme activity | reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin |
| abnormal pericentriolar material morphology | any structural anomaly of the network of small fibers that surrounds the centrioles; it contains the microtubule nucleating activity of the centrosome |
| abnormal pharyngeal arch development | abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears |
| ectopic pharyngeal arch | abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears |
| abnormal adipocyte glucose uptake | anomaly in the ability of adipocytes to take in glucose |
| lactic acidosis | An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. |
| parietal bossing | Parietal bossing is a marked prominence in the parietal region. |
| increased vascular endothelial cell proliferation | increase in the expansion rate of any vascular endothelial cell population by cell division |
| increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent |
| abnormal cerebellar peduncle morphology | any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem |
| trachea inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the trachea |
| trachea fibrosis | invasion of fibrous connective tissue into the trachea, often resulting from inflammation or injury |
| decreased single cell response threshold | reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell |
| abnormal pancreatic islet size | anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas |
| abnormal pre-Botzinger complex morphology | any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis |
| hyperlactation | secretion of milk from the mammary gland in excessive amount, or for an abnormally prolonged period |
| abnormal Bergmann glial cell morphology | any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum |
| abnormal quadriceps morphology | any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint |
| decreased anti-nuclear antigen antibody level | reduced level of antibodies to nuclear antigens present in the sera |
| decreased anti-double stranded DNA antibody level | reduced level of antibodies to double stranded DNA present in the sera |
| abnormal tail hair pigmentation | an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail |
| decreased susceptibility to Togaviridae infection | decrease in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus |
| increased behavioral withdrawal response | increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance |
| increased omental fat pad weight | greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon |
| increased susceptibility to induced muscular atrophy | greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) |
| cystathioninuria | An elevated urinary concentration of cystathionine. |
| decreased DN1 thymic pro-T cell number | reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative |
| increased T-helper 17 cell number | increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 |
| iris hyperplasia | increase in the number of normal cells in normal arrangement in the iris, typically resulting in increased size |
| increased interleukin-23 secretion | increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells |
| increased acute promyelocytic leukemia incidence | |
| abnormal trabecular bone volume | any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton |
| increased urine selenium level | greater than normal amount of selenium in the urine |
| abnormal cochlear potential | anomaly in the evoked response of the cochlea |
| absent placenta hemotrichorial membrane | absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses |
| decreased liver free fatty acids level | reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues |
| abnormal stomach pyloric antrum morphology | any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells |
| decreased brain ependyma motile cilium number | reduced number of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid |
| abnormal glycosaminoglycan level | any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit |
| abnormal corneal stroma collagen fibril morphology | any structural anomaly of the connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity |
| nasal septum hypoplasia | decrease in the number of normal cells in normal arrangement in the nasal septum, typically resulting in decreased size |
| abnormal sphenooccipital synchondrosis | any anomaly in the development of the cartilaginous joint (growth center) between the basioccipital and basisphenoid bones that is an important driver of facial and cranial base growth; sphenooccipital synchondroses are among the last to fuse and may remain patent until early adulthood |
| joint laxity | Lack of stability of a joint. |
| nasal cartilage hypoplasia | decrease in the number of normal cells in normal arrangement in any of the hyaline cartilaginous components of the nose, typically resulting in decreased size |
| increased skeletal tumor incidence | greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period |
| increased Schwannoma incidence | greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve |
| abnormal survival | deviation from the expected viability or life span of an organism |
| increased Harderian gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the Harderian gland, occurring in a specific population in a given time period |
| increased brown fat cell number | increase in the number of fat cells from the thermogenic form of adipose tissue |
| abnormal cerebellum lateral hemisphere morphology | any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity |
| abnormal cerebellar granule cell precursor proliferation | any anomaly in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division |
| abnormal parathyroid gland morphology | any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism |
| abnormal female genitalia morphology | any structural anomaly of the feminine organs of reproduction or generation, external or internal |
| abnormal Mullerian duct topology | aberrant position of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina |
| abnormal Wolffian duct connection | aberrant attachment or incomplete connection of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) to the cloaca |
| absent trachea | absence of the tube descending from the larynx and branching into the right and left main bronchi |
| abnormal trachea development | aberrant formation or incomplete differentiation of the tube descending from the larynx and branching into the right and left main bronchi |
| increased sperm motility | increased mobility of the spermatozoa |
| increased lung endothelial cell migration | increased or faster movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature |
| increased CNS synapse formation | greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron |
| abnormal insulin clearance | increase or decrease in the rate at which insulin is removed from the blood stream |
| abnormal free fatty acids level | any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues |
| abnormal pollex morphology | any structural anomaly of the first or primary digit on the radial side of the hand |
| decreased embryonic cilium number | reduced number of the cilia of the mouse embryo found on the cells of the embryonic node |
| decreased kidney epithelial cell primary cilium length | decreased length of the cilia on cells of the renal tubule or collecting duct |
| increased myeloid sarcoma incidence | |
| decreased total lung capacity | reduced volume of air contained in the lungs at the end of maximal inspiration |
| thoracic aorta aneurysm | a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall |
| abnormal exocrine pancreas physiology | any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes |
| enlarged pharyngeal arch | increased size of one or more of the transient structures of the embryo that develop into regions of the head, neck and ears |
| elongated neck | increased length of the neck |
| abnormal lung bud morphology | any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches |
| absent sweat gland | absence of any of the coil glands of the skin that secrete sweat |
| increased primary ovarian follicle number | greater than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells |
| incudomalleolar fusion | bony fusion of the incus and the malleus into a single structure |
| hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| abnormal cranial foramen morphology | any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium |
| absent paranasal sinus | missing one or more of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity |
| craniofacial hyperostosis | Excessive growth of the craniofacial bones. |
| decreased transitional stage T1 B cell number | reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative |
| increased glioma incidence | greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period |
| increased adrenal cortical tumor incidence | greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period |
| increased caudal vertebrae number | increased number of the bony segments of the coccyx or tail |
| impaired learning | impaired ability to aquire lasting change in behavior that is the result of experience |
| abnormal axillary lymph node morphology | any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region |
| increased hepatic glucose production | increased production of glucose in the liver |
| decreased myoblast proliferation | reduction in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers |
| decreased solitary pulmonary neuroendocrine cell number | decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis |
| decreased melanocyte number | reduced number of the cells that produce pigment |
| increased activation-induced B cell apoptosis | increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death |
| decreased CD4-positive, alpha-beta memory T cell number | reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high |
| abnormal vertical vestibuloocular reflex | any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system |
| decreased number of pulmonary neuroendocrine bodies | reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors |
| high palate | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| pes valgus | an outward deviation of the foot at the talocalcaneal or subtalar joint |
| increased ovarian teratoma incidence | |
| decreased osteoblast apoptosis | reduction in the number of osteoblasts undergoing programmed cell death |
| decreased osteocyte apoptosis | reduction in the number of osteocytes undergoing programmed cell death |
| decreased circulating bilirubin level | reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| increased susceptibility to Flaviviridae infection | increase in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus |
| imperforate hymen | A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. |
| absent infundibular recess of third ventricle | absence of the funnel-shaped diverticulum that normally extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) |
| abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| decreased activation-induced cell death of T cells | decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors |
| optic neuropathy | |
| abnormal vascular plexus formation | |
| abnormal dermal melanocyte morphology | any structural anomaly of the cells that produce pigment in the dermis |
| decreased circulating C-reactive protein level | abnormal reduction of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex |
| nephrosclerosis | |
| abnormal thiamin level | any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver |
| increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| enhanced male fertility | increased physiological ability of a male organism to produce live offspring |
| short metestrus | decrease in the length of the metestrous phase of the estrous cycle in female animals |
| abnormal orbitofrontal cortex morphology | any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making |
| abnormal airway basal cell differentiation | abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders |
| airway basal cell hyperplasia | increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium |
| absent fourth ventricle | absence of the irregularly shaped cavity in the rhombencephalon, normally located between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; the fourth ventricle is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space |
| absent cerebral aqueduct | absence of the channel in the mesencephalon that connects the third and fourth ventricles |
| abnormal alpha-beta T cell morphology | A structural anomal of T cells that express an alpha-beta T cell receptor. |
| decreased lung endothelial cell migration | reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature |
| abnormal skin adnexa physiology | any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| abnormal liver zinc level | anomaly in the amount of zinc present in the liver tissue |
| torticollis | |
| absent molar root | absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively |
| abnormal molar socket morphology | any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of molar teeth are held by fibers of the periodontal ligament |
| increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance |
| pectus carinatum | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| decreased transitional stage T3 B cell number | reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive |
| impaired cranial neural crest cell differentiation | abnormal or arrest of differentiation or patterning of the cranial neural crest cells |
| second pharyngeal arch hypoplasia | decrease in the number of normal cells in normal arrangement in the second pharyngeal arch, typically resulting in decreased size |
| abnormal cerebellar hemisphere morphology | any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis |
| increased interleukin-9 secretion | increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells |
| rachitic rosary | A row of beadlike prominences at the junction of a rib and its cartilage, resembling a rosary. |
| decreased tegmentum size | reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct |
| abnormal temporomandibular joint disk morphology | any structural anomaly of the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion |
| increased adrenocortical adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period |
| delayed suckling reflex loss | cessation of the suckling reflex occurs later in development compared to controls |
| behavioral developmental delay | late onset of the appearance or disappearance of a behavior or behavioral milestone during the development of an organism compared to controls |
| abnormal postimplantation uterine environment | failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo |
| increased circulating troponin I level | greater than the normal concentration in the blood of troponin I (TnI), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin I levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction |
| increased hibernoma incidence | greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period |
| abnormal hypodermis fat layer morphology | any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage |
| abnormal white fat cell differentation | abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole |
| decreased bone mineral density of humerus | reduction in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb |
| delayed head development | late onset of the induction and/or differentiation of the head |
| lymph node atrophy | acquired diminution of the size of lymph node tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation |
| abnormal cerebrospinal fluid flow | any anomaly in the dynamic process by which CSF circulates from the sites of secretion to the sites of absorption according to a unidirectional rostrocaudal flow in ventricular cavities and a multidirectional flow in subarachnoid spaces; CSF produced by the choroid plexuses in the lateral ventricles travels through interventricular foramina to the third ventricle, and then the fourth ventricle via the cerebral aqueduct and finally to the subarachnoid spaces via the median aperture (foramen of Magendie) of the fourth ventricle; in the cranial subarachnoid space, CSF circulates rostrally to the villous sites of absorption or caudally to the spinal subarachnoid space; CSF circulation through the ventricular system is driven by motile cilia on ependymal cells of the brain; CSF flow is pulsatile, corresponding to the systolic pulse wave in choroidal arteries; additional factors such as respiratory waves, the subject's posture, jugular venous pressure and physical effort also modulate CSF flow dynamics and pressure |
| abnormal placental labyrinth villi morphology | any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation |
| abnormal placental labyrinth villi branching morphogenesis | any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium |
| increased placenta intervillous maternal lacunae size | increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project |
| short forehead | an abnormally decreased height of the forehead |
| increased dendritic spine length | increase in the distance from the base to head of a dendritic spine |
| increased radius size | greater than average size of the short bone of the lateral forearm |
| decreased vascular endothelial cell apoptosis | decrease in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| increased hematopoietic stem cell proliferation | increase in the expansion rate of a hematopoietic stem cell population by cell division |
| abnormal olfactory gland morphology | any structural anomaly of the Bowman's glands (aka glands of Bowman, olfactory glands), situated in the olfactory mucosa, beneath the olfactory epithelium, in the lamina propria, a connective tissue also containing fibroblasts, blood vessels, and bundles of fine axons from the olfactory neurons; Bowman's glands consists of an acinus in the lamina propria and a secretory duct going out through the olfactory epithelium |
| increased CD4-positive, alpha-beta memory T cell number | increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high |
| increased DN1 thymic pro-T cell number | increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative |
| abnormal kidney arcuate artery morphology | any structural anomaly of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries |
| increased endometrial gland number | greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus |
| decreased DN2 thymocyte number |
