| Description | Phenotype-causing gene mutations of human phenotypes from disease knowledgebases |
| Measurement | association by data aggregation |
| Association | gene-phenotype associations by mapping disease genes to disease phenotypes |
| Category | disease or phenotype associations |
| Resource | Human Phenotype Ontology |
| Citation(s) | |
| Last Updated | 2015 Apr 06 |
| Stats |
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Attribute Similarity
Gene Attribute
Gene Similarity
6842 sets of genes associated with phenotypes by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Gene Set | Description |
|---|---|
| recurrent aspergillus infections | An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. |
| abnormality of the neck | An abnormality of the neck. |
| ovoid thoracolumbar vertebrae | |
| cortical tubers | Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. |
| epispadias | Displacement of the urethral opening on the dorsal (superior) surface of the penis. |
| decreased glucosephosphate isomerase activity | A decreased rate of glucose-6-phosphate isomerase activity. |
| microcolon | A colon of abnormally small caliber. |
| abnormal dermatoglyphics | An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. |
| focal t2 hyperintense basal ganglia lesion | A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. |
| 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 |
| liver abscess | The presence of an abscess of the liver. |
| radial deviation of the 2nd finger | Displacement of the 2nd finger towards the radial side. |
| abnormality of the falx cerebri | An abnormality of the Falx cerebri. |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| cardiomegaly | Increased size of the heart. |
| anterior polar cataract | A polar cataract that affects the anterior pole of the lens. |
| abnormality of myeloid leukocytes | An abnormality of myeloid leukocytes. |
| postaxial polydactyly | |
| reduced amplitude of pattern visual evoked potentials | |
| abnormality of gastrointestinal vasculature | |
| slender metacarpals | Decreased width of the metacarpal bones (that is, reduced diameter). |
| abnormal gallbladder morphology | A structural anomaly of the gallbladder. |
| deep venous thrombosis | Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. |
| abnormality of the extraocular muscles | An abnormality of an extraocular muscle. |
| pilonidal sinus | A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. |
| butterfly vertebral arch | Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. |
| deviation of the 3rd finger | Displacement of the 3rd finger from its normal position. |
| hypoplastic male external genitalia | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| thyroid hormone receptor defect | |
| focal seizures with impairment of consciousness or awareness | A partial seizure characterized by impairment or loss of consciousness. |
| bronchogenic cyst | A rare congenital cystic lesion of the lungs in the mediastinum. |
| periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| abnormality of the choanae | Abnormality of the choanae (the posterior nasal apertures). |
| abnormality of glycolipid metabolism | An abnormality of glycolipid metabolism. |
| anterior chamber synechiae | |
| abdominal wall muscle weakness | Decreased strength of the abdominal musculature. |
| abnormality of the nasal cavity | Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). |
| stahl ear | The presence of a supernumerary, i.e. third, crus of the helix (FMA:61024) in the helix, arising at or above the normal bifurcation of the antihelix. |
| miosis | Abnormal (non-physiological) constriction of the pupil. |
| small cerebral cortex | Reduced size of the cerebral cortex. |
| birth length less than 3rd percentile | |
| brain abscess | A collection of pus, immune cells, and other material in the brain. |
| renal amyloidosis | A form of amyloidosis that affects the kidney. |
| osteolysis | Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. |
| granulomatosis | Formation of multiple granulomas, i.e., localized nodular foci inflammation. |
| abnormality of the immune system | An abnormality of the immune system. |
| agenesis of pineal gland | Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. |
| abnormality of reticulocytes | A reticulocyte abnormality. |
| small nail | A nail that is diminished in length and width, i.e., underdeveloped nail. |
| wide tufts of distal phalanges | |
| laryngeal atresia | Congenital absence of the lumen of the larynx. |
| retinal hypoplasia | |
| megalencephaly | Enlargement of all or parts of the cerebral hemispheres. |
| labial pseudohypertrophy | |
| cerebral palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| abnormality of upper lip | An abnormality of the upper lip. |
| calvarial osteosclerosis | An increase in bone density affecting the calvaria (roof of the skull). |
| hypoplasia of choroid | Underdevelopment of the choroid. |
| abnormality of the middle phalanx of the 5th finger | |
| abnormal ossification of hand bones | |
| hydrocele testis | |
| abnormality of cochlea | An abnormality of the cochlea. |
| aplasia/hypoplasia of the 5th finger | A small/hypoplastic or absent/aplastic 5th finger. |
| abnormality of von willebrand factor | Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. |
| cranium bifidum occultum | |
| absent sternal ossification | Lack of formation of mineralized bony tissue of the sternum. |
| keloids | Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. |
| fullness of paranasal tissue | Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. |
| duplication of phalanx of toe | Partial/complete duplication of one or more phalanx of toe. |
| absent tibia | Absence of the tibia. |
| type 2 muscle fiber atrophy | Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. |
| nausea and vomiting | |
| congenital stapes ankylosis | A form of stapes ankylosis with congenital onset. |
| tachypnea | Very rapid breathing. |
| craniofacial dysostosis | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
| flexion contracture | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| abnormality of cardiac ventricle | An abnormality of a cardiac ventricle. |
| abnormal bone structure | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| abnormality of the cerebellar peduncle | An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. |
| thyroid dysgenesis | |
| cleft ala nasi | The presence of a notch in the margin of the ala nasi. |
| pancreatic hyperplasia | Hyperplasia of the pancreas. |
| azotemia | An increased concentration of nitrogen compounds in the blood. |
| juvenile cataract | A type of cataract that is not apparent at birth but that arises in childhood or adolescence. |
| clubbing | Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. |
| bacterial endocarditis | A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. |
| branchial fistula | A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. |
| round ear | |
| subarachnoid hemorrhage | Hemorrhage occurring between the arachnoid mater and the pia mater. |
| minimal subcutaneous fat | |
| abnormality of the intestine | An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. |
| bilateral sensorineural hearing impairment | A bilateral form of sensorineural hearing impairment. |
| decreased facial expression | A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. |
| hypergammaglobulinemia | An increased level of gamma globulin (immunoglobulin) in the blood. |
| recurrent abscess formation | An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. |
| deformed rib cage | Malformation of the rib cage. |
| aplasia/hypoplasia affecting the eye | |
| multiple exostoses | Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. |
| nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| progressive cataract | A kind of cataract that progresses with age. |
| aplasia of the inferior half of the cerebellar vermis | |
| transient hypophosphatemia | |
| dry skin | Skin characterized by the lack of natural or normal moisture. |
| spastic dysarthria | A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. |
| synostosis involving bones of the fingers | An abnormal union between bones or parts of bones of the fingers. The synonymous term symphalangism of the hand may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as Symphalangism the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as bony Syndactyly. |
| hypoproteinemic edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). |
| 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. |
| abnormality of the gingiva | Any abnormality of the gingiva (also known as gums). |
| acute colitis | An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). |
| irregular ossification at anterior rib ends | |
| bracket epiphyses of the 2nd finger | Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. |
| abnormality of the lung | An abnormality of the lung. |
| recurrent mandibular subluxations | Recurrent partial dislocations of the mandible. |
| basal cell carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| cerebral edema | |
| aplasia cutis congenita of scalp | A developmental defect resulting in the congenital absence of skin on the scalp. |
| single naris | The presence of only a single nostril. |
| neoplasm of the thymus | A tumor (abnormal growth of tissue) of the thymus. |
| gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| morphological abnormality of the gastrointestinal tract | Abnormal structure of the gastrointestinal tract. |
| enlarged vestibular aqueduct | OMIM mapping confirmed by DO. [SN]. |
| branchial anomaly | Congenital developmental defect arising from the primitive branchial apparatus. |
| congenital microcephaly | Microcephaly (HP:0000252) that is present already at the time of birth. |
| cns hypomyelination | Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. |
| insulin insensitivity | Decreased sensitivity toward insulin. |
| amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| superior pectus carinatum | Pectus carinatum affecting primarily the superior part of the sternum. |
| spastic ataxia | |
| aplasia/hypoplasia of the fallopian tube | Aplasia or developmental hypoplasia of the fallopian tube. |
| difficulty standing | |
| choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| precocious puberty | The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. |
| abnormality of the basal ganglia | |
| abnormality of the vena cava | |
| proximal tapering of metacarpals | Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. |
| intraretinal exudate | Retinal exudate within the retinal tissue itself. |
| mandibular hyperostosis | Hyperostosis (bony overgrowth) of the mandible. |
| progressive inability to walk | |
| chronic lymphatic leukemia | A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. |
| round face | The facial appearance is more circular than usual as viewed from the front. |
| limb hypertonia | |
| rhythm disturbances associated with pheochromocytoma | |
| ewing's sarcoma | A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. |
| subungual fibromas | The presence of fibromata beneath finger or toenails. |
| abnormality of sharpey fibers | An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. |
| impaired collagen-induced platelet aggregation | Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. |
| increased serum prostaglandin e2 | An increased concentration of prostaglandin E2 in the blood. |
| childhood-onset short-trunk short stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. |
| absent fifth fingernail | Absence of nail of little finger. |
| aplasia of the uterus | Aplasia of the uterus. |
| occipital meningocele | |
| recurrent fungal infections | Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection. |
| reduced protein s activity | |
| polymorphous posterior corneal dystrophy | This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. |
| broad phalanx of the toes | Increased width of phalanx of toe of one or more toes. |
| 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. |
| potter facies | A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. |
| triangular epiphyses of the 3rd finger | A triangular appearance of the epiphyses of the 3rd finger of the hand. |
| occipital encephalocele | A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. |
| dysesthesia | Abnormal sensations with no apparent physical cause that are painful or unpleasant. |
| spinocerebellar tract disease in lower limbs | |
| platelet antibody positive | The presence in the serum of autoantibodies directed against thrombocytes. |
| bowed forearm bones | A bending or abnormal curvature affecting either the radius, the ulna, or both. |
| acromesomelia | Small hands and feet. |
| thick eyebrow | Increased density/number and/or increased diameter of eyebrow hairs. |
| teratoma | A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. |
| cardiac arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. |
| abnormal branching pattern of the aortic arch | A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. |
| increased upper to lower segment ratio | Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. |
| pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. |
| hypomethioninemia | A decreased concentration of methionine in the blood. |
| hypoplasia of lymphatic vessels | Congenital underdevelopment of lymph vessels. |
| small pituitary gland | An abnormally decreased size of the pituitary gland. |
| abnormality of the thorax | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| onycholysis | Detachment of the nail from the nail bed. |
| myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| tricuspid 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. |
| puberty and gonadal disorders | |
| fetal polyuria | Abnormally increased production of urine by the fetus resulting in polyhydramnios. |
| lacrimal gland aplasia | A congenital defect of development characterized by absence of the lacrimal gland. |
| paralytic ileus | |
| mesomelic arm shortening | Shortening of the middle parts of the arm in relation to the upper and terminal segments. |
| low alkaline phosphatase | Abnormally reduced serum levels of alkaline phosphatase activity. |
| palmoplantar keratosis with erythema and scale | |
| urethral valve | The presence of an abnormal membrane obstructing the urethra. |
| abnormality of the hypothalamus-pituitary axis | Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. |
| abnormality of the head | An abnormality of the head. |
| abnormal motor nerve conduction velocity | |
| white forelock | A triangular depigmented region of white hairs located in the anterior midline of the scalp. |
| small proximal tibial epiphyses | Reduced size of the proximal epiphysis of the tibia. |
| unsteady gait | |
| patchy hypopigmentation of hair | Reduced pigmentation of hair in patches. |
| abnormal maternal serum screening | An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. |
| segmental peripheral demyelination/remyelination | A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. |
| broad forehead | Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. |
| nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| central hypotonia | Reduced muscle tone secondary to an abnormality of the central nervous system. |
| episodic tachypnea | Episodes of very rapid breathing. |
| abnormality of the hairline | The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. |
| cystathioninemia | An increased concentration of cystathionine in the blood. |
| abnormality of the cornea | Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. |
| malformation of the heart and great vessels | |
| abnormality of the frontal sinuses | |
| exercise-induced muscle cramps | Sudden and involuntary contractions of one or more muscles brought on by physical exertion. |
| developmental stagnation | A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. |
| synostosis involving digits | |
| abnormality of metacarpophalangeal joint | An anomaly of a metacarpophalangeal joint. |
| elevated urinary epinephrine | An increased concentration of adrenaline in the urine. |
| abnormality of the femoral neck or head region | |
| nevus flammeus | A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. |
| clumsiness | Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. |
| renal salt wasting | A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). |
| abnormality of the intrahepatic bile duct | An abnormality of the intrahepatic bile duct. |
| sparse lateral eyebrow | Decreased density/number and/or decreased diameter of lateral eyebrow hairs. |
| vocal cord paralysis (caused by tumor impingement) | |
| macrodactyly of finger | A type of Macrodactyly affecting one or several fingers. |
| cervical instability | |
| cortical gyral simplification | An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex. |
| tubulointerstitial fibrosis | Fibrosis that involves the tubules and interstitial tissue of the kidney. |
| tapering pointed ends of distal finger phalanges | A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). |
| abnormality of fluid regulation | An abnormality of the regulation of body fluids. |
| abnormality of the philtrum | An abnormality of the philtrum. |
| lattice corneal dystrophy | |
| high-frequency hearing impairment | |
| short distal phalanx of finger | Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. |
| presenile cataracts | Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. |
| thin skin | Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. |
| abnormality of the dentate nucleus | An abnormality of the dentate nucleus. |
| renal magnesium wasting | High urine magnesium in the presence of hypomagnesemia. |
| foot dorsiflexor weakness | Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. |
| hypoplasia of the musculature | Underdevelopment of the musculature. |
| progressive hearing impairment | A progressive form of hearing impairment. |
| tarsal synostosis | Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). |
| aplasia/hypoplasia of the uvula | Underdevelopment or absence of the uvula. |
| abnormality of the fallopian tube | An abnormality of the fallopian tube. |
| sagittal craniosynostosis | A kind of craniosynostosis affecting the sagittal suture. |
| camptodactyly of finger | The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. |
| gastrointestinal stroma tumor | |
| iga deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| epileptic spasms | A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. |
| preductal coarctation of the aorta | Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. |
| symphalangism of middle phalanx of finger | Fusion of a middle phalanx of a finger with another bone. |
| brittle hair | Fragile, easily breakable hair, i.e., with reduced tensile strength. |
| clubbing of fingers | Terminal broadening of the fingers (distal phalanges of the fingers). |
| lumbar kyphoscoliosis | |
| abnormality of secondary sexual hair | Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. |
| pace of progression | |
| acute demyelinating polyneuropathy | Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. |
| juvenile colonic polyposis | The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. |
| aortic regurgitation | An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. |
| abnormality of the pineal gland | An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. |
| abnormality of the crus of the helix | An abnormality of the crus of the helix (FMA:61024), which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. |
| contiguous gene syndrome | |
| synovial hypertrophy | |
| aplasia/hypoplasia of the distal phalanx of the 5th finger | |
| abnormality of the acetabulum | An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. |
| phenylpyruvic acidemia | |
| proximal amyotrophy | Amyotrophy (muscular atrophy) affecting the proximal musculature. |
| cranial hyperostosis | Excessive growth of the bones of cranium, i.e., of the skull. |
| acute hepatic failure | Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. |
| urinary tract neoplasm | An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. |
| protanomaly | A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. |
| juvenile aseptic necrosis | Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. |
| thyroid carcinoma | |
| diffuse palmoplantar keratoderma | |
| abnormality of vision | Abnormality of eyesight (visual perception). |
| mortality/aging | |
| bony spicule pigmentary retinopathy | A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone. |
| irregular sclerosis of hand bones | |
| dense deposit disease | A type of membranoproliferative glomerulonephritis characterized by electron dense deposits at the glomerular basement membrane. |
| erythema | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| eeg with generalized epileptiform discharges | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| organic aciduria | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| thickened achilles tendon | An abnormal thickening of the Achilles tendon. |
| levator palpebrae superioris atrophy | Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. |
| scapuloperoneal myopathy | A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. |
| anterior beaking of lumbar vertebrae | Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. |
| abnormality of the sense of smell | An anomaly in the ability to perceive and distinguish scents (odors). |
| scapular exostoses | The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage. |
| alopecia of scalp | |
| recurrent staphylococcal infections | |
| intimal thickening in the coronary arteries | |
| limb pain | Chronic pain in the limbs with no clear focal etiology. |
| aplasia/hypoplasia of the tragus | Aplasia or developmental hypoplasia of the tragus. |
| cns demyelination | A loss of myelin from nerve fibers in the central nervous system. |
| moderately short stature | A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. |
| dysgerminoma | A germ cell cancer that derives_from cells that give rise to egg cells. |
| type 1 muscle fiber predominance | An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). |
| metaphyseal cupping of metacarpals | Metaphyseal cupping affecting the metacarpal bones. |
| gastrointestinal carcinoma | A gastrointestinal system cancer that has_material_basis_in epithelial cells. |
| abnormality of central somatosensory evoked potentials | |
| hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| pulverulent cataract | A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. |
| bracket epiphyses of the phalanges of the hand | Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. |
| decreased circulating aldosterone level | A decreased level of aldosterone in the blood. |
| cerebral aneurysm | |
| synotia | A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. |
| endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| abnormality of permanent molar morphology | An abnormality of morphology of permanent molar. |
| large sella turcica | An abnormal enlargement of the sella turcica. |
| oligodactyly (feet) | A developmental defect resulting in the presence of fewer than the normal number of toes. |
| lack of spontaneous play | |
| bracket epiphysis of the middle phalanx of the 2nd finger | |
| progressive congenital scoliosis | A progressive form of scoliosis with congenital onset. |
| impaired adp-induced platelet aggregation | Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. |
| thoracolumbar kyphosis | Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. |
| abnormality of lower limb bone | |
| choroidal hemangiomata | The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. |
| testicular dysgenesis | |
| lenticonus | A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. |
| loss of ability to walk | |
| hemifacial spasm | A segmental myoclonus of muscles innervated by the facial nerve. |
| intraocular melanoma | An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. |
| hypoplastic female external genitalia | Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). |
| urinary incontinence | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| paramedian lip pit | Depression located paramedially on the vermilion of a lip. |
| sclerotic scapulae | Increased density of the bony tissue of the scapula. |
| methemoglobinemia | |
| enlarged epiphysis of the proximal phalanx of the 3rd finger | Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. |
| abnormality of muscle physiology | A functional abnormality of a skeletal muscle. |
| enlarged cisterna magna | Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. |
| sclerotic vertebral endplates | Sclerosis (increased density) affecting vertebral end plates. |
| exercise-induced rhabdomyolysis | Rhabdomyolysis induced by exercise. |
| sparse body hair | Sparseness of the body hair. |
| horizontal nystagmus | Nystagmus consisting of horizontal to-and-fro eye movements. |
| decreased circulating cortisol level | Abnormally reduced concentration of cortisol in the blood. |
| left bundle branch block | A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. |
| absent middle phalanx of 5th finger | Absence of the middle phalanx of the little (5th) finger. |
| congenital hypoparathyroidism | Deficiency of parathyroid hormone with congenital onset. |
| progressive visual field defects | |
| failure of eruption of permanent teeth | Lack of tooth eruption of the secondary dentition. |
| malignant neoplasm of the central nervous system | |
| tricuspid valve prolapse | |
| abnormal rod and cone electroretinograms | An abnormality of the combined rod-and-code response on electroretinogram. |
| auditory hallucinations | |
| retinal dystrophy | |
| herpetiform corneal ulceration | The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. |
| microtia, second degree | Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. |
| muscle hyperirritability | |
| telangiectasia macularis eruptiva perstans | |
| nail dysplasia | The presence of developmental dysplasia of the nail. |
| hypoglycinemia | An abnormally reduced concentration of glycine in the blood. |
| diplopia | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. |
| abnormality of the parathyroid physiology | A functional abnormality of the parathyroid gland. |
| abnormality of the corpus callosum | Abnormality of the corpus callosum. |
| malnutrition | |
| neonatal unconjugated hyperbilirubinemia | |
| cerebral white matter atrophy | The presence of atrophy (wasting) of the cerebral white matter. |
| symmetrical progressive peripheral demyelination | A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. |
| retinal dysplasia | The presence of developmental dysplasia of the retina. |
| cerebral venous thrombosis | disease cluster belonging to disease group cardiovascular |
| periapical radiolucency | Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). |
| paresthesia | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| aortic tortuosity | Abnormal tortuous (i.e., twisted) form of the aorta. |
| premature peripheral vascular disease | |
| atrophy/degeneration affecting the central nervous system | |
| abnormality of the achilles tendon | An abnormality of the Achilles tendon. |
| crumpled ear | Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. |
| renal potassium wasting | High urine potassium in the presence of hypokalemia. |
| abnormality of the thumb | An anomaly of the thumb. |
| dorsal column degeneration | |
| renal aminoaciduria | An increased concentration of an amino acid in the urine, due to a decreased kidney functionality . |
| abnormality of the myocardium | |
| restlessness | |
| colpocephaly | Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. |
| abnormality of complement system | An abnormality of the complement system. |
| hypopigmentation of hair | |
| abnormality of the medullary cavity of the long bones | An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. |
| medulloblastoma | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) |
| aplasia/hypoplasia involving the nose | Underdevelopment or absence of the nose or parts thereof. |
| small sella turcica | An abnormally small sella turcica. |
| genetic anticipation | A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. |
| loss of ability to walk in first decade | |
| elevated serum creatine phosphokinase | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. |
| abnormality of the phalanges of the 5th finger | Abnormality of the phalanges of the 5th (little) finger. |
| aplasia/hypoplasia of the frontal sinuses | Absence or underdevelopment of frontal sinus. |
| abnormal albumin level | Deviation from normal concentration of albumin in the blood. |
| abnormality of glycoprotein metabolism | An abnormality of a glycoprotein metabolic process. |
| iris coloboma | A coloboma of the iris. |
| urticaria | Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction. |
| increased purine levels | |
| glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| cerebellar cortical atrophy | Atrophy (wasting) of the cerebellar cortex. |
| enlarged epiphyses of the proximal phalanges of the hand | |
| testicular microlithiasis | The deposition of calcium phosphate microliths within the seminiferous tubules. |
| white eyelashes | White color (lack of pigmentation) of the eyelashes. |
| pancreatic cysts | A cyst of the pancreas that possess a lining of mucous epithelium. |
| chronic active hepatitis | |
| genital hernia | |
| pustule | A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. |
| fragmented, irregular epiphyses | |
| recurrent pharyngitis | An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. |
| abnormality of blood glucose concentration | An abnormality of the concentration of glucose in the blood. |
| speech articulation difficulties | Impairment in the physical production of speech sounds. |
| posterior lenticonus | A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. |
| 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. |
| digenic inheritance | A type of multifactorial inheritance governed by the simultaneous action of two gene loci. |
| parathyroid hypoplasia | Developmental hypoplasia of the parathyroid gland. |
| t lymphocytopenia | An abnormally low count of T cells. |
| postnatal macrocephaly | The postnatal development of an abnormally large skull (macrocephaly). |
| accessory carpal bones | The presence of more than the normal number of carpal bones. |
| platybasia | A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. |
| cystathioninuria | An elevated urinary concentration of cystathionine. |
| chronic atrophic gastritis | A form of chronic gastritis associated with atrophic gastric mucous membrane. |
| aplasia/hypoplasia of the lungs | |
| abnormality of the renal tubule | An abnormality of the renal tubules. |
| neonatal hyperbilirubinemia | A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. |
| thickened cortex of long bones | Abnormal thickening of the cortex of long bones. |
| deformed radius | |
| diffuse reticular or finely nodular infiltrations | |
| melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| shoulder flexion contracture | Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. |
| visceral angiomatosis | |
| abnormality of the shoulder | An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. |
| cherry red spot of the macula | Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. |
| neuroepithelial neoplasm | A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. |
| adrenal calcification | Calcification within the adrenal glands. |
| myofibrillar myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| pointed chin | A marked tapering of the lower face to the chin. |
| cervical vertebral fusion (c2/c3) | |
| thickened superior cerebellar peduncle | Increased width of the superior cerebellar peduncle. |
| 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. |
| abnormality of the 3rd toe | An anomaly of the third toe. |
| bladder exstrophy | Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall |
| orchitis | |
| recurrent bacterial infections | Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. |
| intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. |
| intellectual disability, moderate | Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. |
| facial wrinkling | Excessive wrinkling of the skin of the face. |
| aplasia of the tarsal bones | Absence of the tarsal bones. |
| renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. |
| pancreatic hypoplasia | Hypoplasia of the pancreas. |
| childhood onset | Onset of disease at the age of between 1 and 5 years. |
| atrophy/degeneration involving the corticospinal tracts | |
| fatal liver failure in infancy | |
| white matter neuronal heterotopia | |
| iron deficiency anemia | |
| absent or minimally ossified vertebral bodies | |
| reduction of neutrophil motility | An abnormal reduction of the cell motility of neutrophils. |
| cloverleaf skull | Trilobar skull configuration when viewed from the front or behind. |
| distal upper limb muscle weakness | Reduced strength of the distal musculature of the arms. |
| rhabdomyosarcoma | |
| aplasia of the proximal phalanges of the hand | |
| abnormality of forearm bone | |
| abetalipoproteinemia | A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). |
| igm deficiency | An abnormally decreased level of immunoglobulin IgM in blood. |
| low gonadotropins (secondary hypogonadism) | |
| decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| nephropathy | A disease affecting the kidneys |
| osteolytic defects of the distal phalanges of the hand | |
| short nasal bridge | |
| hypochloremia | An abnormally decreased chloride concentration in the blood. |
| absent fingernail | Absence of a fingernail. |
| aortic root dilatation | |
| aplasia/hypoplasia of the quadriceps | Absence or underdevelopment of the quadriceps muscle. |
| eosinophilia | |
| abnormality of chromosome condensation | An abnormality of chromosome condensation. |
| abnormality of prostaglandin metabolism | An abnormality of prostaglandin metabolism. |
| progressive spastic paraplegia | |
| mandibular prognathia | Abnormal prominence of the chin related to increased length of the mandible. |
| absent earlobe | Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. |
| neurodevelopmental abnormality | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| generalized osteosclerosis | An abnormal increase of bone mineral density with generalized involvement of the skeleton. |
| malignant mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| biceps aplasia | Absence of the biceps muscle. |
| red hair | |
| aplasia/hypoplasia involving the musculature of the upper arm | Absence or underdevelopment of the muscles of the upper arm. |
| lower extremity joint dislocation | Displacement or malalignment of one or more joints in the lower extremity (leg). |
| abnormality of connective tissue | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| abnormality of upper limb bone | |
| abnormality of thumb phalanx | A structural anomaly of one or more phalanges of the thumb. |
| susceptibility to chickenpox | |
| abnormal enchondral ossification | An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. |
| yellow-brown discoloration of the teeth | |
| folate-dependent fragile site at xq28 | The presence of a folate sensitive fragile site at chromosome Xq28. |
| cystic lesions of the pinnae | |
| peroneal muscle weakness | Weakness of the peroneal muscles. |
| abnormality of the odontoid process | Abnormality of the dens of the axis, which is also known as the odontoid process. |
| neoplasm of the oral cavity | A tumor (abnormal growth of tissue) of the oral cavity. |
| anterior encephalocele | |
| deviation of the hallux | Displacement of the big toe from its normal position. |
| madelung-like forearm deformities | |
| u-shaped upper lip vermilion | Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. |
| abnormal number of vertebrae | A deviation from the normal number of vertebrae in the spinal column. |
| enlargement of the costochondral junction | Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. |
| neonatal breathing dysregulation | |
| postural hypotension with compensatory tachycardia | |
| calcification of the aorta | Calcification, that is, pathological deposition of calcium salts in the aorta. |
| mandibular aplasia | Absence of the mandible. |
| epididymitis | |
| progressive cone degeneration | |
| decreased adipose tissue around neck | Reduced amount of adipose tissue in the region of the neck. |
| abnormal platelet membrane protein expression | Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. |
| posterior subcapsular cataract | A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. |
| 2-3 toe syndactyly | Syndactyly with fusion of toes two and three. |
| hypometric saccades | Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. |
| long face | Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). |
| external ear malformation | A malformation of the auricle of the ear. |
| enlarged metaphyses | Abnormal increase in size of one or more metaphyses. |
| abnormality of alanine metabolism | An abnormality of an alanine metabolic process. |
| short chordae tendineae of the tricuspid valve | Abnormally short chordae tendineae of the tricuspid valve. |
| partial agenesis of the corpus callosum | A partial failure of the development of the corpus callosum. |
| mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| reticulated skin pigmentation | |
| esophageal carcinoma | Tumors or cancer of the ESOPHAGUS. |
| atlantoaxial abnormality | An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. |
| ventricular septal defect | A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. |
| abnormality of the lower limb | An abnormality of the leg. |
| frontal balding | Absence of hair in the anterior midline and/or parietal areas. |
| abnormality of thrombocytes | An abnormality of platelets. |
| bifid scrotum | Midline indentation or cleft of the scrotum. |
| polyclonal elevation of igm | |
| low cholesterol esterification rates | A reduction in the rate of cholesterol esterification. |
| aplasia/hypoplasia of the scapulae | |
| diffuse mesangial sclerosis | Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. |
| hypoplasia of the ventral pons | Underdevelopment of the ventral portion of the pons. |
| delayed puberty | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| abnormality of the posterior pituitary | An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. |
| hypotrichosis of the scalp | Reduced or lacking hair growth of the scalp. |
| focal seizures without impairment of consciousness or awareness | A partial seizure in which consciousness is maintained. |
| pseudoepiphyses of the 2nd finger | A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. |
| broad hallux | Visible increase in width of the hallux without an increase in the dorso-ventral dimension. |
| upper limb metaphyseal widening | Increased width (breadth) of metaphyses of the arms. |
| tinnitus | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. |
| absent nasal septal cartilage | Lack of the cartilage of the nasal septum. |
| abnormal mitochondria in muscle tissue | An abnormality of the mitochondria in muscle tissue. |
| abnormality of the thymus | Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. |
| hypotrophy of the small hand muscles | |
| sclerotic cranial sutures | An increased density in the cranial sutures following obliteration. |
| two carpal ossification centers present at birth | |
| abnormality of the musculature of the upper limbs | |
| limb-girdle muscular dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| hypophosphatemia | |
| eeg with burst suppression | The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. |
| abnormality of the anterior chamber | Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. |
| chronic furunculosis | A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. |
| intermittent thrombocytopenia | Reduced platelet count that occurs sporadically, i.e., it comes and goes. |
| gastrointestinal hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| esotropia | Esotropia is a strabismus in which the eye turns inward toward the nose. |
| short nose | Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. |
| polyuria | An increased rate of urine production. |
| heterotopia | |
| tented upper lip vermilion | Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. |
| erectile abnormalities | |
| flattened metatarsal heads | Abnormally flat shape of the heads of the metatarsal bones. |
| ige deficiency | An abnormally decreased level of immunoglobulin IgE in blood. |
| visceromegaly | Abnormal increased size of the viscera of the abdomen. |
| microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| positive regitine blocking test | A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. |
| pigment gallstones | Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. |
| enlargement of parotid gland | Increased size of the parotid gland. |
| periorbital fullness | Increase in periorbital soft tissue. |
| glossoptosis | Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. |
| bowed humerus | A bending or abnormal curvature of the humerus. |
| single transverse palmar crease | The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. |
| abnormality of the vestibulocochlear nerve | Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. |
| sensory axonal neuropathy | An axonal neuropathy of peripheral sensory nerves. |
| nystagmus-induced head nodding | Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. |
| insomnia | Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition |
| nonimmune hydrops fetalis | A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . |
| slender finger | Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| euthyroid multinodular goiter | |
| agenesis of cerebellar vermis | Congenital absence of the vermis of cerebellum. |
| glenoid fossa hypoplasia | Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. |
| patchy sclerosis of finger phalanx | Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. |
| absent phalangeal crease | Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). |
| abnormality of prenatal development or birth | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| nonspherocytic hemolytic anemia | |
| abnormality of the upper limb | An abnormality of the arm. |
| abnormal male reproductive system physiology | An abnormal functionality of the male genital system. |
| mode of inheritance | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| unilateral cleft lip | A non-midline cleft of the upper lip on one side only. |
| square pelvis | An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. |
| fibular overgrowth | Relatively increased growth of the fibula compared to that of the tibia. |
| fractures of the long bones | An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna). |
| peters anomaly | A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. |
| telangiectases in sun-exposed and nonexposed skin | |
| abnormality of binocular vision | An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. |
| diaminoaciduria | |
| stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| congenital nuclear cataract | A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear. |
| right aortic arch | Aorta descends on right instead of on the left. |
| paroxysmal atrial fibrillation | Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. |
| generalized limb muscle atrophy | Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. |
| progressive vitiligo | |
| metaphyseal sclerosis | Abnormally increased density of metaphyseal bone. |
| bilateral talipes equinovarus | Bilateral clubfoot deformity (see HP:0001762). |
| underdeveloped supraorbital ridges | Flatness of the supraorbital portion of the frontal bones. |
| smooth muscle antibody positivity | The presence in serum of antibodies against smooth muscle. |
| bilateral intracranial calcifications | Deposition of calcium salts on both sides of the brain. |
| abnormality of the nasal septum | An abnormality of the nasal septum. |
| large earlobe | Increased volume of the earlobe, that is, abnormally prominent ear lobules. |
| sutural cataract | A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. |
| tortuosity of conjunctival vessels | The presence of an increased number of twists and turns of the conjunctival blood vessels. |
| broad jaw | Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). |
| elevated urinary homovanillic acid | An increased concentration of homovanillic acid in the urine. |
| short 5th finger | Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. |
| y-shaped metacarpals | Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. |
| abnormal placental size | A deviation from normal size of the placenta. |
| patchy changes of bone mineral density | Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). |
| femoral hernia | A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. |
| short 5th toe | Underdevelopment (hypoplasia) of the fifth toe. |
| inverted nipples | The presence of nipples that instead of pointing outward are retracted inwards. |
| neoplasm of the eye | A tumor (abnormal growth of tissue) of the eye. |
| absent pigmentation of chest | Lack of skin pigmentation (coloring) of the chest. |
| gait ataxia | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| follicular thyroid carcinoma | A thyroid carcinoma that has_material_basis_in follicular cells. |
| chronic lactic acidosis | A chronic form of lactic acidemia. |
| aplasia of the abdominal wall musculature | Absence of the abdominal musculature. |
| ambiguous genitalia, male | Ambiguous genitalia in an individual with XY genetic gender. |
| lymph node hypoplasia | Underdevelopment of the lymph nodes. |
| adrenal gland dysgenesis | Abnormal development of the adrenal gland. |
| anterolateral radial head dislocation | A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. |
| impaired temperature sensation | A reduced ability to discriminate between different temperatures. |
| pseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| aplasia/hypoplasia of the proximal phalanges of the hand | |
| focal segmental glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| abnormal central microtubular pair morphology of respiratory motile cilia | A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. |
| ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| numerous pigmented freckles | |
| increased serum bile acid concentration during pregnancy | |
| decreased activity of mitochondrial complex ii | A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. |
| short 4th toe | Underdevelopment (hypoplasia) of the fourth toe. |
| abnormal platelet granules | An anomaly of alpha or dense granules or platelet lysosomes. |
| hypertensive retinopathy | |
| decreased activity of mitochondrial complex iv | A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. |
| radial deviation of finger | Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. |
| aplasia/hypoplasia of the skin | |
| pyoderma | Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. |
| hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| abnormality of cation homeostasis | An abnormality of cation homeostasis. |
| recurrent vulvovaginal candidiasis | Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. |
| aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| premature calcification of mitral annulus | Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. |
| cubitus valgus | Abnormal positioning in which the elbows are turned out. |
| abnormality of the thyroid gland | An abnormality of the thyroid gland. |
| abnormality of the bladder | An abnormality of the urinary bladder. |
| neutropenia | |
| eeg with abnormally slow frequencies | EEG with abnormally slow frequencies. |
| mononeuropathy | |
| cortically dense long tubular bones | Increased density of the compact bone of long bone. |
| abnormality of the alveolar ridges | Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. |
| atrophic, patchy alopecia | |
| 3-4 toe syndactyly | Syndactyly with fusion of toes three and four. |
| desquamative interstitial pneumonitis | |
| aplasia/hypoplasia of the distal phalanx of the 2nd finger | |
| choroidoretinal degeneration | |
| abnormal subcutaneous fat tissue distribution | |
| aplasia/hypoplasia involving bones of the hand | Absence (due to failure to form) or underdevelopment of the bones of the hand. |
| abnormal electroretinogram | Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. |
| abnormality of forebrain morphology | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| aplasia/hypoplasia of the 4th finger | A small/hypoplastic or absent/aplastic 4th (ring) finger. |
| testicular seminoma | The presence of a seminoma, an undifferentiated germ cell tumor of the testis. |
| osteopenia | Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. |
| abnormal lung lobation | Defects in the formation of pulmonary lobules. |
| abnormality of cerebral artery | An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. |
| impaired memory b-cell generation | Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. |
| aplasia/hypoplasia of toe | Absence or hypoplasia of toes. |
| patchy sclerosis of hand bones | |
| ablepharon | Absent eyelids. |
| chronic axonal neuropathy | An abnormality characterized by chronic impairment of the normal functioning of the axons. |
| abnormal flash visual evoked potentials | Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. |
| aplasia/hypoplasia of the iris | Absence or underdevelopment of the iris. |
| neutral hyperaminoaciduria | |
| hydrometrocolpos | Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. |
| myocardial necrosis | |
| single umbilical artery | Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. |
| abnormal peripheral nervous system synaptic transmission | An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. |
| nasal polyposis | Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. |
| madelung deformity | An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. |
| reduced pancreatic beta cells | Reduced number of beta cells in the pancreatic islets of Langerhans. |
| gingival overgrowth | |
| intracellular accumulation of autofluorescent lipopigment storage material | The intracellular accumulation of autofluorescent storage material. |
| posterior vertebral hypoplasia | |
| second metatarsal posteriorly placed | |
| radially deviated wrists | |
| abnormality of the epiphyses of the phalanges of the hand | Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). |
| abnormality of the choroid plexus | An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. |
| enlarged kidneys | An abnormal increase in the size of the kidney. |
| abnormality of circulating protein level | |
| abnormal urine phosphate concentration | An abnormal phosphate concentration in the urine. |
| rectoperineal fistula | The presence of a fistula between the perineum and the rectum. |
| aplasia of the middle phalanx of the hand | Absence of one or more middle phalanx of a finger. |
| hypoglycemic encephalopathy | Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. |
| chronic oral candidiasis | |
| gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| abnormality of pancreas morphology | |
| hyperhomocystinemia | An increased concentration of homocystine in the blood. |
| bowing of the legs | A bending or abnormal curvature affecting a long bone of the leg. |
| spotty hyperpigmentation | |
| arthropathy | A bone inflammation disease that is located_in joint. |
| hypoplasia of the lacrimal puncta | Underdevelopment of the lacrimal puncta. |
| acute leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| alkalosis | Depletion of acid or accumulation base in the body fluids. |
| calf muscle hypertrophy | Muscle hypertrophy affecting the calf muscles. |
| generalized hyperreflexia | |
| limited wrist movement | An abnormal limitation of the mobility of the wrist. |
| hemivertebrae | Absence of one half of the vertebral body. |
| recurrent infections | Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. |
| abnormality of the seventh cranial nerve | Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. |
| adrenocorticotropic hormone excess | Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. |
| iridescent posterior subcapsular cataract | A type of posterior subcapsular cataract characterized by an iridescent color. |
| pseudobulbar paralysis | |
| diffuse white matter abnormalities | This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. |
| abnormality of the labia minora | An anomaly of the labia minora, the folds of skin between the outer labia. |
| exocrine pancreatic insufficiency | |
| muscle flaccidity | A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. |
| abnormality of the palmar creases | An abnormality of the creases of the skin of palm of hand. |
| few cafe-au-lait spots | The presence of two to five cafe-au-lait macules. |
| conjunctival whitish salt-like deposits | The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. |
| intermittent hypothermia | Episodes of reduced body termperature. |
| hematological neoplasm | |
| bilateral elbow dislocations | |
| neoplasm of the lung | Tumor of the lung. |
| distal widening of metacarpals | Abnormal increase in width of the distal region of the metacarpal bones. |
| abnormal drinking behavior | Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. |
| rib exostoses | Multiple circumscribed bony excrescences located in the ribs. |
| hepatomegaly | Abnormally increased size of the liver. |
| migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| hepatic amyloidosis | A form of amyloidosis that affects the liver. |
| optic nerve coloboma | congenital defect of the optic nerve in which some part of the structure is absent |
| retinal striation | |
| moyamoya phenomenon | A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. |
| motor deterioration | Loss of previously present motor (i.e., movement) abilities. |
| left anterior fascicular block | Conduction block in the anterior division of the left bundle branch of the bundle of His. |
| ph-positive acute lymphoblastic leukemia | |
| biliary tract abnormality | |
| abnormality of cells of the lymphoid lineage | An anomaly of cells that originate from the lymphoid lineage restricted progenitor cell. |
| progressive neurologic deterioration | |
| third degree atrioventricular block | |
| anterior tibial bowing | An abnormal anterior bending or curvature of the tibia. |
| hypertensive crisis | |
| unerupted tooth | The presence of one or more embedded tooth germs which have failed to erupt. |
| abnormal sperm motility | An anomaly of the mobility of ejaculated sperm. |
| abnormality of the aortic arch | An anomaly of the arch of aorta. |
| respiratory acidosis | Acidosis because of respiratory retention of carbon dioxide. |
| orotic acid crystalluria | Formation of crystals owing to an increased concentration of orotic acid in the urine (FMA:12274). |
| deuteranomoly | A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. |
| malaligned carpal bone | Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). |
| pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| absent external genitalia | Lack of external genitalia in a male or female individual. |
| respiratory distress | |
| vertical supranuclear gaze palsy | A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| generalized tonic seizures | Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes. |
| iridodonesis | Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. |
| labial hypertrophy | |
| difficulty running | Reduced ability to run. |
| abnormality of upper limb epiphysis morphology | |
| abnormality of the carpal bones | An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). |
| drowsiness | Excessive daytime sleepiness. |
| peripheral vitreoretinal degeneration | |
| varus deformity of humeral neck | |
| lacrimal duct aplasia | A congenital defect resulting in absence of the lacrimal duct. |
| absence of pectoralis minor muscle | Aplasia (congenital absence) of the pectoralis minor. |
| photosensitive tonic-clonic seizures | Generalized tonic-clonic seizures that are triggered by flashing or flickering light. |
| taurodontia | Increased volume of dental pulp of permanent molar. |
| generalized abnormality of skin | An abnormality of the skin that is not localized to any one particular region. |
| aplasia/hypoplasia of the pyramidal tract | |
| fused sternal ossification centers | |
| dumbbell-shaped long bone | An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. |
| frontal bossing | Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. |
| anomalous splenoportal venous system | |
| progressive spastic quadriplegia | |
| abnormality of b cells | An abnormality of B cells. |
| frontal upsweep of hair | Upward and/or sideward growth of anterior hair. |
| central scotoma | An area of depressed vision located at the point of fixation and that interferes with central vision. |
| abnormality of cardiac morphology | An abnormality of the heart. |
| narrow iliac wings | Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). |
| abnormality of the glial cells | An abnormality of the glia cell. |
| abnormality of the upper arm | |
| cystic hygroma | |
| late-onset distal muscle weakness | |
| abnormality of peripheral nervous system electrophysiology | An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. |
| short diaphyses | |
| prominent scalp veins | |
| underdeveloped tragus | Decreased posterolateral protrusion of the tragus. |
| discoid lupus erythematosus | |
| crossed fused renal ectopia | A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. |
| abnormality of the aryepiglottic fold | An abnormality of the aryepiglottic fold. |
| abnormality of the 4th finger | |
| moderate global developmental delay | A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. |
| ekg: t-wave abnormalities | An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. |
| hernia of the abdominal wall | The presence of a hernia in the abdominal wall. |
| thyroiditis | Updating to more specific UMLS_CUI from C0029495 to C0040147. |
| onion bulb formation | Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. |
| prominent metopic ridge | Vertical bony ridge positioned in the midline of the forehead. |
| prominent nasolabial fold | Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). |
| increased circulating very-low-density lipoprotein cholesterol | An increase in the amount of very-low-density lipoprotein cholesterol in the blood. |
| urinary urgency | Urge incontinence is the strong, sudden need to urinate. |
| drumstick terminal phalanges | Rounding and broadening of the tufts of the distal phalanges. |
| oval face | A face with a rounded and slightly elongated outline. |
| abnormality of cells of the erythroid lineage | An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. |
| 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. |
| limb muscle weakness | Reduced strength and weakness of the muscles of the arms and legs. |
| abnormality of prothrombin | An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. |
| recurrent bacterial meningitis | An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. |
| aplasia/hypoplasia involving forearm bones | Absence (due to failure to form) or underdevelopment of one or more forearm bones. |
| abnormal renal corticomedullary differentiation | An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. |
| involuntary jerking movements | |
| buphthalmos | OMIM mapping confirmed by DO. [LS]. |
| triangular mouth | The presence of a triangular form of the mouth. |
| abnormality of the phalanges of the 4th finger | Abnormality of the phalanges of the 4th (ring) finger. |
| aseptic necrosis | |
| severe osteoporosis | Severe degree of osteoporosis. |
| scapulohumeral synostosis | Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. |
| anterior beaking of thoracic vertebrae | Anterior tongue-like protrusions of thoracic vertebral bodies. |
| multiple epiphyseal dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. |
| waddling gait | |
| exercise-induced hemolysis | A form of hemolytic anemia that can be triggered by exertion. |
| slender forearm bones | |
| pancytopenia | |
| absent nasal bridge | |
| exercise intolerance | |
| almond-shaped palpebral fissure | A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. |
| iliac horns | Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. |
| abnormality of b cell physiology | An abnormality of the physiological functioning of B cells. |
| decreased muscle mass | |
| long neck | Increased inferior-superior length of the neck. |
| midline defect of mandible | |
| supernumerary bones of the axial skeleton | |
| unexplained fevers | Episodes of fever for which no infectious cause can be identified. |
| multiple gastric polyps | |
| congenital neutropenia | A form of neutropenia with congenital onset. |
| vertebral segmentation defect | An abnormality related to a defect of vertebral separation during development. |
| elongated sella turcica | |
| laryngeal web | A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. |
| renal fanconi syndrome | An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. |
| hypopigmentation of the skin | A reduction of skin color related to a decrease in melanin production and deposition. |
| atonic seizures | Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground . |
| parathyroid adenoma | |
| epicanthus inversus | A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. |
| increased renal tubular phosphate reabsorption | |
| calcific stippling of infantile cartilaginous skeleton | |
| global brain atrophy | Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. |
| hearing impairment | A decreased magnitude of the sensory perception of sound. |
| abnormality of the nervous system | An abnormality of the nervous system. |
| pursed lips | An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. |
| acetabular dysplasia | The presence of developmental dysplasia of the acetabular part of hip bone. |
| deviation of the 4th finger | Displacement of the 4th finger from its normal position. |
| macrocytic dyserythropoietic anemia | |
| macular hyperpigmentation | Increased amount of pigmentation in the macula lutea. |
| peripheral retinal atrophy | |
| abnormal humeral ossification | An anomaly of the process of formation of bone in the humerus. |
| flattening of the talar dome | |
| lacunar retinal depigmentation | |
| 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. |
| fava bean-induced hemolytic anemia | A kind of hemolytic anemia that is induced by the ingestion of fava beans. |
| abnormality of the musculature of the limbs | |
| hypoplasia of the nasal bone | Underdevelopment of the nasal bone. |
| neoplasm of the tracheobronchial system | |
| multiple cutaneous leiomyomas | The presence of multiple leiomyomas of the skin. |
| postauricular pit | Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. |
| bulbous nose | Increased volume and globular shape of the anteroinferior aspect of the nose. |
| polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| cleft upper lip | |
| generalized bone demineralization | A generalized decrease in bone mineral density. |
| bony paranasal bossing | |
| triangular shaped middle phalanx of the 5th finger | Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| gout (feet) | Gout affecting the Metatarsophalangeal joint of big toe. |
| absent thumb | Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. |
| hypoplastic pelvis | Underdevelopment of the bony pelvis. |
| reduced beta/alpha synthesis ratio | A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. |
| polyarticular arthritis | |
| abnormality of the subungual region | A lesion located beneath a fingernail or toenail. |
| pharyngeal edema | Abnormal accumulation of fluid leading to swelling of the pharynx. |
| rib fusion | Complete or partial merging of adjacent ribs. |
| leg muscle stiffness | |
| hypoplastic acetabulae | Underdeveloped acetabulae. |
| skeletal dysplasia | A general term describing features characterized by abnormal development of bones and connective tissues. |
| papilloma | A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. |
| first dorsal interossei muscle weakness | |
| abnormal delayed hypersensitivity skin test | Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. |
| hyperperistalsis | |
| generalized morning stiffness | A sensation of stiffness in the joints that occurs following waking up in the morning. |
| depletion of components of the alternative complement pathway | |
| enlarged thorax | |
| visual auras | Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis. |
| 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. |
| hyperhidrosis | Abnormal excessive perspiration (sweating). |
| abnormality of thyroid morphology | A structural abnormality of the thyroid gland. |
| abnormality of the scalp | Abnormality of the scalp. |
| hypodysplasia of the corpus callosum | |
| nongranulomatous uveitis | A form of uveitis that is not associated with the formation of granulomas. |
| caudate atrophy | |
| broad metatarsal | Increased side-to-side width of a metatarsal bone. |
| aplasia/hypoplasia of the sternum | |
| pallidal degeneration | Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. |
| galactorrhea | Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. |
| aplasia/hypoplasia of the distal phalanx of the 3rd finger | |
| narrow naris | Slender, slit-like aperture of the nostril. |
| basilar impression | Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. |
| inflammatory abnormality of the skin | |
| increased serum pyruvate | An increased concentration of pyruvate in the blood. |
| abnormality of the frontal hairline | An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. |
| cone-shaped epiphysis | Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. |
| autonomic bladder dysfunction | Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. |
| abnormality of the retinal pigment epithelium | An abnormality of the retinal pigment epithelium. Much of the pigmentary change that occurs in diseases of the retina takes place in the RPE (which is pigmented) rather than in the retina (which is transparent). The main purpose of the RPE is to insulate and support the overlying neural retina. |
| abnormality of the renal collecting system | An abnormality of the renal collecting system. |
| long foot | Increased back to front length of the foot. |
| neoplasm of the small intestine | The presence of a neoplasm of the small intestine. |
| chin with horizontal crease | Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. |
| decreased fertility | |
| abnormality of the pulmonary vasculature | |
| vertebral hyperostosis | Excessive growth of the bones of the vertebral bodies. |
| peripheral axonal neuropathy | |
| ulnar claw | An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. |
| oligosacchariduria | Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. |
| thickened ribs | Increased thickness (diameter) of ribs. |
| hyperchloremia | An abnormally increased chloride concentration in the blood. |
| increased axial globe length | Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. |
| abnormality of the epiphyses of the middle phalanges of the hand | |
| vestibular areflexia | Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. |
| increased hepatic glycogen content | An increase in the amount of glycogen stored in hepatocytes compared to normal. |
| abnormality of the femoral metaphysis | An anomaly of the femoral metaphysis. |
| short metacarpals with rounded proximal ends | |
| vomiting | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| abnormality of oral mucosa | Abnormality of the oral mucosa. |
| abnormality of peripheral nerves | |
| bifid nasal tip | A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. |
| increased ige level | An abnormally increased level of immunoglobulin E in blood. |
| abnormality of the acoustic reflex | |
| impaired distal vibration sensation | A decrease in the ability to perceive vibration in the distal portions of the limbs. |
| 4-hydroxyphenylacetic aciduria | Increased concentration of 4-hydroxyphenylacetic acid in the urine. |
| abnormal upper motor neuron morphology | Any structural anomaly that affects the upper motor neuron. |
| congenital ptosis | A ptosis characterized by eyelid drop present at birth. |
| abnormal protein n-linked glycosylation | An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. |
| forearm undergrowth | Forearm shortening because of underdevelopment of one or more bones of the forearm. |
| morphological abnormality of the middle ear | An abnormality of the morphology or structure of the middle ear. |
| short 1st metacarpal | In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| decreased urinary sulfate | Decreased concentration of sulfate in the urine. |
| increased intramyocellular lipid droplets | An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images. |
| thiamine-responsive megaloblastic anemia | A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. |
| generalized muscle hypertrophy | Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. |
| aplasia/hypoplasia of the optic nerve | |
| abnormality of potassium homeostasis | An abnormal concentration of potassium. |
| diaphragmatic eventration | |
| abnormal echocardiogram | An abnormality detectable by sonography of the heart (echocardiography). |
| vitamin b6 deficiency | |
| onychogryposis of toenails | Thickened toenails. |
| lichenification | Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. |
| abnormality of the lip | An abnormality of the lip. |
| parietal foramina | NT MGI. |
| intermittent jaundice | Jaundice that is sometimes present, sometimes not. |
| abnormality of the pituitary gland | An anomaly of the pituitary gland. |
| tubulointerstitial abnormality | An abnormality that involves the tubules and interstitial tissue of the kidney. |
| emg: myotonic runs | Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). |
| decreased adenosylcobalamin | Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. |
| adenoma sebaceum | |
| giant cell hepatitis | |
| juvenile gastrointestinal polyposis | The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. |
| congenital primary aphakia | A developmental defect resulting in congenital absence of the crystalline lens. |
| abnormal serum ferritin | |
| overgrowth | Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. |
| keratoconjunctivitis | |
| ciliary dyskinesia | A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. |
| anasarca | An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. |
| widening of cervical spinal canal | |
| decreased calvarial ossification | Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). |
| primary ovarian failure | |
| acute pancreatitis | |
| eczematoid dermatitis | |
| scissor gait | A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. |
| calcific aortic valve stenosis | A type of aortic valve stenosis associated with calcification of the aortic heart valve. |
| abnormal female reproductive system physiology | |
| persistent bleeding after trauma | |
| fibular duplication | Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. |
| frontal hirsutism | Excessive amount of hair growth on forehead. |
| abnormality of the dental pulp | An abnormality of the dental pulp. |
| skin ulcer | A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. |
| abnormal hypothalamus morphology | Any structural anomaly of the hypothalamus. |
| peritonitis | A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. |
| neoplasm of the gastrointestinal tract | A tumor (abnormal growth of tissue) of the gastrointestinal tract. |
| functional motor problems | |
| narrow vertebral interpedicular distance | A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. |
| abnormality of cysteine metabolism | An abnormality of a cysteine metabolic process. |
| adenomatous colonic polyposis | Presence of multiple adenomatous polyps in the colon. |
| eyelid apraxia | |
| large placenta | Increased size of the placenta. |
| thickening of the glomerular basement membrane | Increase in thickness of the basal lamina of the glomerulus of the kidney. |
| 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. |
| diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| partial fusion of carpals | |
| areflexia | Absence of neurologic reflexes such as the knee-jerk reaction. |
| keratocystic odontogenic tumor | A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. |
| refractory anemia | |
| hamartomatous stomach polyps | Polyp-like protrusions which are histologically hamartomas located in the stomach. |
| epidermoid cyst | The presence of one or more cysts of the skin. |
| nephrogenic rest | Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. |
| urinary glycosaminoglycan excretion | Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. |
| upper motor neuron dysfunction | |
| abnormality of metabolism/homeostasis | |
| paraplegia | |
| ganglioneuroma | |
| arthrogryposis multiplex congenita | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| mandibular pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. |
| limited elbow flexion/extension | |
| papillary renal cell carcinoma | A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. |
| apneic episodes in infancy | Recurrent episodes of apnea occurring during infancy. |
| aplasia/hypoplasia of the ovary | Aplasia or developmental hypoplasia of the ovary. |
| metatarsus adductus | The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. |
| diffuse hepatic steatosis | A diffuse form of hepatic steatosis. |
| recurrent pneumonia | An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. |
| incoordination | |
| trichorrhexis nodosa | Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. |
| peripheral thrombosis | |
| abnormality of the thenar eminence | An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. |
| seborrheic dermatitis | A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. |
| broad distal phalanx of the thumb | Increased width of the distal phalanx of thumb. |
| motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| emg: neuropathic changes | The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). |
| abnormal axial skeleton morphology | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| abnormality of ganglioside metabolism | Abnormality of ganglioside metabolism. |
| disproportionate tall stature | A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. |
| noncompaction cardiomyopathy | A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. |
| paresis of extensor muscles of the big toe | |
| immunologic hypersensitivity | |
| duplication of distal phalanx of toe | A partial or complete duplication of one or more distal phalanx of toe. |
| focal retinal infarction | |
| abnormality of the middle phalanges of the toes | |
| leydig cell insensitivity to gonadotropin | |
| aplasia/hypoplasia of the phalanges of the 5th finger | Aplasia/Hypoplasia of the phalanges of the 5th finger. |
| middle age onset | A type of adult onset with onset of symptoms at the age of 40 to 60 years. |
| biconcave flattened vertebrae | |
| premature osteoarthritis | |
| broad metacarpals | Abnormally broad metacarpal bones. |
| coxa valga | Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). |
| lower limb peromelia | Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. |
| poor speech | |
| metopic synostosis | Premature fusion of the metopic suture. |
| oligodactyly (hands) | A developmental defect resulting in the presence of fewer than the normal number of fingers. |
| abnormal calcification of the carpal bones | |
| pectus carinatum | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| flat acetabular roof | Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. |
| broad finger | Increased width of a non-thumb digit of the hand. |
| gastric ulcer | A peptic ulcer of the gastric mucosa. |
| open bite | Visible space between the dental arches in occlusion. |
| pes cavus | The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. |
| bilateral triphalangeal thumbs | A bilateral form of triphalangeal thumb. |
| malrotation of colon | An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. |
| pancreatic fibrosis | |
| self-mutilation | |
| club-shaped proximal femur | An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. |
| talipes calcaneovalgus | Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an up and out appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. |
| abnormality of humoral immunity | An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. |
| hyperlipidemia | Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. |
| neonatal alloimmune thrombocytopenia | Low platelet count associated with maternal platelet-specific alloantibodies. |
| increased rate of premature chromosome condensation | An increased rate of premature chromosome condensation. |
| aplasia/hypoplasia involving the corticospinal tracts | |
| bowel incontinence | Involuntary fecal soiling in adults and children who have usually already been toilet trained. |
| corpus callosum atrophy | The presence of atrophy (wasting) of the corpus callosum. |
| hypoplasia of penis | |
| large hands | |
| abnormality of the sixth cranial nerve | An abnormality of the abducens nerve. |
| decreased fertility in females | |
| precocious puberty in males | The onset of puberty before the age of 9 years in boys. |
| enlarged peripheral nerve | Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. |
| abnormality of calvarial morphology | The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. |
| metaphyseal chondrodysplasia | An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. |
| abnormal testosterone level | An anomalous concentration of testosterone in the blood. |
| prominent glabella | Forward protrusion of the glabella. |
| j-shaped sella turcica | A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. |
| abnormality of the hip joint | An abnormality of the hip joint. |
| bird-like facies | |
| short femoral neck | An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| abnormality of the humeral metaphyses | |
| partial duplication of the phalanges of the 2nd finger | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| hyperpigmentation in sun-exposed areas | |
| exudative retinal detachment | A type of retinal detachment associated with leakage of fluid (exudate) from under the retina. |
| nodular changes affecting the eyelids | Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. |
| decreased csf homovanillic acid (hva) | Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. |
| abnormal peripheral myelination | An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. |
| cone-rod dystrophy | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| oligodontia | A tooth disease characterized by failure to develop on or more missing teeth. |
| congenital bilateral hip dislocation | |
| limb ataxia | A kind of ataxia that affects movements of the extremities. |
| severe platyspondyly | |
| fair hair | A lesser degree of hair pigmentation than would otherwise be expected. |
| diastema | Increased space between two adjacent teeth in the same dental arch. |
| cleft soft palate | Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. |
| optic disc hypoplasia | Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. |
| 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. |
| non-midline cleft lip | Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. |
| abnormality of urine bicarbonate concentration | An abnormality of the concentration of hydrogencarbonate in the urine. |
| interphalangeal joint contracture of finger | Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. |
| high iliac wings | Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). |
| low-to-normal blood pressure | |
| limited shoulder movement | A limitation of the range of movement of the shoulder joint. |
| submucous cleft soft palate | A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. |
| rectovaginal fistula | The presence of a fistula between the vagina and the rectum. |
| tapetoretinal degeneration | |
| dysautonomia | Dysfunction of the autonomic nervous system. |
| aplasia/hypoplasia of the tarsal bones | Absence or underdevelopment of the tarsal bones. |
| upslanted palpebral fissure | The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. |
| abnormal speech discrimination | A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. |
| megakaryocytopenia | A reduced count of megakaryocytes. |
| abnormal genital system morphology | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| uveitis | |
| abnormal morphology of bones of the lower limbs | |
| pseudoarthrosis | A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). |
| posterior cortical cataract | A cataract that affects the posterior part of the cortex of the lens. |
| abnormal liver function tests during pregnancy | |
| congenital muscular torticollis | A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. |
| partial duplication of the distal phalanges of the hand | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| neoplasm of the liver | |
| large iliac wings | Increased size of the ilium ala. |
| premature birth following premature rupture of fetal membranes | |
| gastrointestinal arteriovenous malformation | |
| abnormal cortical bone morphology | An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. |
| short digit | One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. |
| hyperkeratosis over edematous areas | |
| microspherocytosis | The presence of erythrocytes that are sphere-shaped and reduced in size. |
| respiratory alkalosis | Alkalosis due to excess loss of carbon dioxide from the body. |
| impaired distal tactile sensation | A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. |
| sandal gap | A widely spaced gap between the first toe (the great toe) and the second toe. |
| intestinal obstruction | |
| metaphyseal dappling | The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. |
| hepatic arteriovenous malformation | |
| recurrent infection of the gastrointestinal tract | Recurrent infection of the gastrointestinal tract. |
| abnormal hypothalamus physiology | An abnormal functionality of the hypothalamus. |
| vaginal hernia | The presence of a hernia of the vagina. |
| acetabular spurs | The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. |
| hypoplasia of the thymus | Underdevelopment of the thymus. |
| underfolded helix | Underdevelopment of the helix that either affects the entire helix, or is localized. |
| abnormal trabecular bone morphology | Abnormal structure or form of trabecular bone. |
| abnormality of the genitourinary system | The presence of any abnormality of the genitourinary system. |
| pili torti | Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. |
| abnormal electrophysiology of sinoatrial node origin | An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. |
| tractional retinal detachment | A type of retinal detachment associated with traction exerted by fibrous or fibrovascular tissue. The fibrous tissue is visible in the vitreous and may be the result of injury, inflammation or neovascularization. If such membranes contract, they pull the sensory retina apart from the underlying retinal pigment epithelium. |
| aplasia of metacarpal bones | Developmental defect associated with absence of one or more metacarpal bones. |
| acute monocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| chronic sinusitis | A chronic form of sinusitis. |
| bifid sternum | The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. |
| abnormality of the lymphatic vessels | |
| decreased activity of nadph oxidase | |
| abnormality of the fascia | An abnormality of fascia. |
| salt craving | An excessive desire to eat salt (sodium chloride) or salty foods. |
| abnormality of the ear | An abnormality of the ear. |
| increased hematocrit | An increase in the volume of packed erythrocytes in a blood specimen. |
| pulmonary arterial medial hypertrophy | Increase in mass of the tunica media of the arteries in the pulmonary circulation. |
| acute hyperammonemia | An increased concentration of ammonia in the blood with sudden onset. |
| abnormality of femoral epiphysis | An anomaly of a growth plate of a femur. |
| rhizomelia | Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). |
| calcaneonavicular fusion | Synostosis of the calcaneus with the navicular bone. |
| congenital lactic acidosis | A form of lactic acidemia with congenital onset. |
| aplasia of the 5th finger | Absent 5th (little) finger. |
| abnormal metacarpal morphology | Irregularly shaped metacarpal bones of varying degree. |
| stomatocytosis | The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. |
| recurrent enteroviral infections | Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. |
| polar cataract | A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. |
| abnormality of the radius | An abnormality of the radius. |
| spatulate thumbs | Spoon-shaped, broad thumbs. |
| agitation | |
| hyperactivity | |
| decreased nerve conduction velocity | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| genu recurvatum | An abnormally increased extension of the knee joint, so that the knee can bend backwards. |
| abnormality of the liver | An abnormality of the liver. |
| convex nasal ridge | Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. |
| bifid tongue | Tongue with a median apical indentation or fork. |
| familial predisposition | |
| 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. |
| hand tremor | |
| lymphangioma | |
| lower limb hyperreflexia | |
| abnormality of upper limb metaphysis | An anomaly of one or more metaphyses of the arms. |
| hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| generalized amyotrophy | Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. |
| anemia due to reduced life span of red cells | A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. |
| delayed tarsal ossification | Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| anterior rib cupping | Wide, concave anterior rib end. |
| duplication of the distal phalanx of hand | This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| spondylolysis | A bone structure disease that involves a defect located_in lumbar vertebral column. |
| emg: chronic denervation signs | Evidence of chronic denervation on electromyography. |
| frequent falls | |
| abnormality of dental color | A developmental defect of tooth color. |
| neonatal epiphyseal stippling | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. |
| infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| relatively short spine | |
| elevated serum creatinine | An increased amount of creatinine in the blood. |
| abnormality of alkaline phosphatase activity | An abnormality of alkaline phosphatase activity. |
| respiratory insufficiency | Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide. |
| male hypogonadism | Decreased functionality of the male gonad, i.e., of the testis. |
| 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. |
| enlarged epiphyses of the phalanges of the hand | Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. |
| severe photosensitivity | A severe degree of photosensitivity of the skin. |
| impaired vibration sensation in the lower limbs | A decrease in the ability to perceive vibration in the legs. |
| hypnopompic hallucinations | |
| hip dysplasia | The presence of developmental dysplasia of the hip. |
| exercise-induced lactic acidemia | A form of lactic acidemia that occurs following exercise or exertion. |
| deep plantar creases | The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. |
| coarctation of aorta | Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. |
| abnormality of the epiphyses of the distal phalanx of finger | Any anomal of distal epiphysis of phalanx of finger. |
| abnormality of the proximal phalanges of the hand | |
| impulsivity | |
| abnormal t3/t4 ratio | A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. |
| peripheral retinopathy | |
| neoplasm of the adrenal cortex | The presence of a neoplasm of the adrenal cortex. |
| renal angiomyolipoma | |
| abnormality of the larynx | An abnormality of the larynx. |
| trismus | Limitation in the ability to open the mouth. |
| incomplete partition of the cochlea type ii | The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule. |
| chorioretinal abnormality | An abnormality of the choroid and retina. |
| partial development of the penile shaft | |
| abnormality of circulating hormone level | An abnormal concentration of a hormone in the blood. |
| morphological abnormality of the central nervous system | A structural abnormality of the central nervous system. |
| acral ulceration and osteomyelitis leading to autoamputation of digits | Ulceration and osteomyelitis of the distal parts of the limbs associated with necrosis and spontaneous detachment of digits or parts of digits. |
| absent ulna | Missing ulna bone associated with congenital failure of development. |
| abnormality of the salivary glands | |
| fine, reticulate skin pigmentation | |
| progressive psychomotor deterioration | |
| hydroxyprolinuria | An increased concentration of 4-hydroxy-L-proline the urine. |
| hepatic necrosis | The presence of necrosis affecting the liver. |
| non-hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| hypoplastic inferior ilia | |
| tubular atrophy | The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. |
| finger clinodactyly | |
| underdeveloped nasal alae | Thinned, deficient, or excessively arched ala nasi. |
| thyroid hypoplasia | Developmental hypoplasia of the thyroid gland. |
| abnormality of the epiphysis of the middle phalanx of the 3rd finger | |
| reactive hypoglycemia | Hypoglycermia following a meal (or more generally, after intake of glucose). |
| aplasia/hypoplasia of the ulna | Absence or underdevelopment of the ulna. |
| varicocele | |
| hypoplastic ilia | Underdevelopment of the ilium. |
| alveolar ridge overgrowth | Increased width of the alveolar ridges. |
| everted upper lip vermilion | Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. |
| multiple impacted teeth | The presence of multiple impacted teeth. |
| elevated 8-dehydrocholesterol | |
| aplasia/hypoplasia involving bones of the feet | |
| abnormal glycosylation | An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. |
| small foramen magnum | An abnormal narrowing of the foramen magnum. |
| increased hemoglobin | |
| abnormal iris vasculature | |
| osteopathia striata | A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. |
| neoplasm of the inner ear | A tumor (abnormal growth of tissue) of the inner ear. |
| episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| spotty hypopigmentation | |
| stiff interphalangeal joints | Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. |
| progressive reticulate hyperpigmentation | |
| cranial nerve compression | |
| delayed myelination | Delayed myelination. |
| abnormality of cell physiology | An abnormality in a cellular process. |
| specific antibody deficiency | The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. |
| cardiac fibroma | A fibroma of the heart. |
| parathyroid agenesis | Aplasia of the parathyroid gland. |
| hepatocellular carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| neoplasm of fatty tissue | A tumor (abnormal growth of tissue) of adipose tissue. |
| abnormal pupillary function | |
| ectropion | |
| bronchiolitis obliterans organizing pneumonia | An obstructive lung disease that involves granulation tissue plugs within lumens of small airways, sometimes with complete obstruction of small airways and granulation tissue extending into alveolar ducts and alveoli. |
| barrel-shaped chest | A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. |
| abnormality of primary molar morphology | An abnormality of morphology of primary molar. |
| electron transfer flavoprotein-ubiquinone oxidoreductase defect | |
| decreased number of sweat glands | The presence of fewer than normal sweat glands. |
| episodic flaccid weakness | Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. |
| slender proximal phalanx of finger | Reduced diameter of the proximal phalanx of finger. |
| broad phalanges of the hand | Increased width of the phalanges of the hand. |
| 3-4 finger cutaneous syndactyly | A soft tissue continuity in the A/P axis between fingers 4 and 4. |
| percussion myotonia | A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). |
| bicornuate uterus | The presence of a bicornuate uterus. |
| chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| impotence | |
| impaired fsh and lh secretion | |
| hypoplastic anemia | Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. |
| thenar muscle atrophy | |
| cerebral atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| metopic suture patent to nasal root | The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. |
| type 1 and type 2 muscle fiber minicore regions | Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. |
| abnormality of copper homeostasis | An abnormal concentration of copper. |
| diabetes insipidus | |
| punctate vasculitis skin lesions | |
| torsade de pointes | A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. |
| exercise-induced myalgia | The occurrence of an unusually high amount of muscle pain following exercise. |
| short sacroiliac notch | The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. |
| limb dysmetria | A type of dysmetria involving the limbs. |
| varicose veins | A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. |
| macrotia | Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). |
| aplasia cutis congenita over posterior parietal area | |
| intestinal lymphangiectasia | Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. |
| 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. |
| abnormality of the sacroiliac joint | An anomaly of the sacroiliac joint. |
| extrapyramidal muscular rigidity | Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). |
| dilatation of the renal pelvis | The presence of dilatation of the renal pelvis. |
| triangular epiphysis of the middle phalanx of the 2nd finger | |
| macroreticular retinal dystrophy | |
| night blindness | |
| 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. |
| protruding ear | Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). |
| emotional lability | |
| persistence of hemoglobin f | Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. |
| abnormality of the diaphragm | Any abnormality of the diaphragm. |
| abnormality of movement | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| 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). |
| increased number of teeth | The presence of a supernumerary, i.e., extra, tooth or teeth. |
| congenital corneal dystrophy | |
| pigmented micronodular adrenocortical disease | |
| anal atresia | |
| generalized arterial tortuosity | Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. |
| numerous nevi | |
| pontocerebellar atrophy | Atrophy affecting the pons and the cerebellum. |
| eclabion | A turning outward of the lip or lips, that is, eversion of the lips. |
| hemoglobinuria | |
| valgus hand deformity | |
| diffuse cerebellar atrophy | Diffuse unlocalised atrophy affecting the cerebellum. |
| telangiectasia of the oral mucosa | Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. |
| myelopathy | |
| central hypothyroidism | A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. |
| sudden cardiac death | The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). |
| lateral displacement of patellae | |
| low-frequency hearing loss | A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). |
| large artery calcification | Calcification, that is, pathological deposition of calcium salts, of the large, conduit arteries (aorta, subclavian, carotid, iliac, renal, axillary, femoral, brachial). |
| salivary gland neoplasm | A tumor (abnormal growth of tissue) of a salivary gland. |
| obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| lacrimal duct stenosis | Narrowing of a tear duct (lacrimal duct). |
| broad femoral neck | An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| uterine prolapse | The presence of prolapse of the uterus. |
| abnormality of the lacrimal duct | An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. |
| broad distal phalanges of all fingers | Abnormally wide (broad) distal phalanx of finger of all fingers. |
| focal white matter lesions | |
| abnormality of the proximal tibial epiphysis | Any abnormality of the proximal epiphysis of the tibia. |
| insulin-resistant diabetes mellitus at puberty | |
| metabolic ketoacidosis | |
| narrow nasal ridge | Decreased width of the nasal ridge. |
| right-to-left shunt | Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. |
| hyperammonemia | An increased concentration of ammonia in the blood. |
| abnormality of the aortic valve | Any abnormality of the aortic valve. |
| spinal dysraphism | OMIM mapping confirmed by DO. [LS]. |
| loss of eyelashes | This term refers to the loss of eyelashes that were previously present. |
| abnormality of the corticospinal tract | Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. |
| profuse pigmented skin lesions | |
| granular corneal dystrophy | |
| hypoplasia of the primary teeth | Developmental hypoplasia of the primary teeth. |
| aplasia/hypoplasia of the phalanges of the 4th finger | |
| spastic tetraplegia | |
| posterior rib fusion | Complete or partial merging of the posterior part of adjacent ribs. |
| contractures of the large joints | |
| abnormality of the endocrine system | |
| progressive fusion 2nd-5th pip joints | |
| increased urinary cortisol level | Abnormally increased concentration of cortisol in the urine. |
| craniopharyngioma | |
| metacarpal osteolysis | |
| agenesis of maxillary lateral incisor | Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. |
| mitochondrial malic enzyme reduced | |
| situs inversus totalis | A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. |
| arachnodactyly | Abnormally long and slender fingers (spider fingers). |
| hypernatriuria | An increased concentration of sodium(1+) in the urine. |
| abnormality of the tarsal bones | An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. |
| short chordae tendineae of the mitral valve | Abnormally short chordae tendineae of the mitral valve. |
| overfolding of the superior helices | A condition in which the superior portion of the helix is folded over to a greater degree than normal. |
| poikiloderma | Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. |
| premature thelarche | Premature development of the breasts. |
| popliteal pterygium | A pterygium (or pterygia) occuring in the popliteal region (the back of the knee). |
| increased red cell osmotic fragility | |
| preaxial polydactyly | A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. |
| squared iliac bones | A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. |
| joint hyperflexibility | |
| unilateral narrow palpebral fissure | A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. |
| brain atrophy | Partial or complete wasting (loss) of brain tissue that was once present. |
| aplasia/hypoplasia of the biceps | Absence or underdevelopment of the biceps muscle. |
| aplasia/hypoplasia affecting the fundus | |
| abnormal posturing | Involuntary flexion or extension of the arms and legs. |
| obstructive sleep apnea | A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. |
| 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. |
| alveolar soft part sarcoma | A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. |
| congenital localized absence of skin | |
| epibulbar dermoid | An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). |
| velopharyngeal insufficiency | Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. |
| progressive encephalopathy | |
| optic neuropathy | |
| plexiform neurofibroma | |
| dilation of lateral ventricles | |
| hydranencephaly | |
| transitional cell carcinoma of the bladder | The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. |
| lip hyperpigmentation | |
| chorioretinal dysplasia | Abnormal development of the choroid and retina. |
| lambdoidal craniosynostosis | A kind of craniosynostosis affecting the lambdoidal suture. |
| edema of the dorsum of hands | An abnormal accumulation of fluid beneath the skin on the back of the hands. |
| small anterior fontanelle | Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. |
| autophagic vacuoles | The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. |
| aplasia/hypoplasia affecting the retina | |
| irregular carpal bones | Carpal bones with irregular or fragmented margins. |
| aganglionic megacolon | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| tongue atrophy | Wasting of the tongue. |
| excessive wrinkling of palmar skin | |
| salmonella osteomyelitis | |
| periventricular gray matter heterotopia | A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. |
| ragged-red muscle fibers | An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. |
| vertebral arch anomaly | A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. |
| partial abdominal muscle agenesis | Failure to form of portions of the abdominal musculature. |
| laryngeal carcinoma | A larynx cancer that has_material_basis_in epithelial cells. |
| enthesitis | |
| abnormality of the soft palate | An abnormality of the soft palate. |
| abnormality of the adrenal glands | Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. |
| osteolysis involving bones of the lower limbs | |
| abnormal natural killer cell physiology | A functional anomaly of the natural killer cell. |
| abnormality of the periorbital region | An abnormality of the region situated around the orbit of the eye. |
| nephrotic syndrome | Xref MGI. |
| calvarial hyperostosis | Excessive growth of the calvaria. |
| abnormality of the respiratory system | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| medullary thyroid carcinoma | A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. |
| superficial thrombophlebitis | Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). |
| complete duplication of thumb phalanx | A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism. |
| duplicated collecting system | A duplication of the collecting system of the kidney. |
| bracket epiphyses | |
| chest pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. |
| wide anterior fontanel | Enlargement of the anterior fontanelle with respect to age-dependent norms. |
| increased blood urea nitrogen (bun) | An increased amount of nitrogen in the form of urea in the blood. |
| intestinal polyposis | The presence of multiple polyps in the intestine. |
| 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. |
| glomus jugular tumor | |
| hyperactive renin-angiotensin system | An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. |
| hypothermia | Reduced body temperature due to failed thermoregulation. |
| anotia | Complete absence of any auricular structures. |
| morphological abnormality of the inner ear | A structural anomaly of the internal part of the ear. |
| renal agenesis | |
| frontolimbic dementia | |
| adrenocortical cytomegaly | The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. |
| uterine rupture | |
| birth length greater than 97th percentile | |
| increased sensitivity to ionizing radiation | An abnormally increased sensitivity to the effects of ionizing radiation. |
| numerous congenital melanocytic nevi | |
| spontaneous pneumothorax | Pneumothorax occurring without traumatic injury to the chest or lung. |
| aplasia/hypoplasia of the hallux | Absence or underdevelopment of the big toe. |
| maternal diabetes | |
| pleuropulmonary blastoma | A pulmonary blastoma that derives_from the lung or pleural cavity. |
| oropharyngeal squamous cell carcinoma | A squamous cell carcinoma that originates in the oropharnyx. |
| sleep-wake cycle disturbance | |
| triangular nasal tip | |
| nail pits | Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. |
| laryngeal calcification | Calcification (abnormal deposits of calcium) in the laryngeal tissues. |
| descending aortic aneurysm | A bulging, weakened area in the wall of the descending thoracic aorta. |
| gastrointestinal infarctions | |
| agoraphobia | A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. |
| abnormal external genitalia | |
| nevus sebaceous | A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. |
| macroorchidism | The presence of abnormally large testes. |
| tongue fasciculations | Fasciculations or fibrillation affecting the tongue muscle. |
| pear-shaped vertebrae | Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. |
| blepharophimosis | |
| young adult onset | Onset of disease at the age of between 16 and 40 years. |
| hypoplasia of the odontoid process | Developmental hypoplasia of the dens of the axis. |
| abnormality of fontanelles | An abnormality of the fontanelle. |
| 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. |
| abnormality of the anterior segment of the eye | An abnormality of the anterior segment of the eye. |
| abnormal immunoglobulin level | An abnormal deviation from normal levels of immunoglobulins in blood. |
| abnormality of the septum pellucidum | An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. |
| congenital abnormal hair pattern | A congenital abnormality of the distribution of hair growth. |
| calf muscle hypoplasia | Underdevelopment of the muscuklature of the calf. |
| aplasia/hypoplasia of the gallbladder | Absence or underdevelopment of the gallbladder. |
| dislocated wrist | An injury of the wrist with displacement of any of the eight carpal bones. |
| loss of facial expression | |
| widely-spaced incisors | |
| radial deviation of thumb terminal phalanx | |
| toe clinodactyly | Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). |
| abnormality of renal excretion | An altered ability of the kidneys to void urine and/or specific substances. |
| pigmentary retinopathy | |
| posterior polar cataract | OMIM mapping confirmed by DO. [SN]. |
| cutaneous syndactyly | A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. |
| abnormality of the premaxilla | An abnormality of the premaxilla. |
| basal ganglia gliosis | The presence of gliosis in the basal ganglia. |
| triangular shaped proximal phalanx of the 3rd finger | Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| alzheimer disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| spontaneous esophageal perforation | The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. |
| talipes cavus equinovarus | |
| facial palsy | |
| aplasia of the fingers | Aplasia of one or more fingers. |
| hypoplastic coccygeal vertebrae | |
| 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. |
| microphakia | Abnormal smallness of the lens. |
| cleft vertebral arch | A discontinuity of the vertebral arch (FMA:11946), i.e., of the posterior part of a vertebra. |
| alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| temporal hypotrichosis | Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). |
| palpebral edema | Edema in the region of the eyelids. |
| female hypogonadism | Decreased functionality of the female gonads, i.e., of the ovary. |
| radial deviation of the hand | An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). |
| eeg abnormality | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| hemiclonic seizures | |
| anomalous pulmonary venous return | A developmental defect characterized by abnormal connection of or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. |
| 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. |
| abnormality of renin-angiotensin system | An abnormality of the renin-angiotensin system. |
| abnormality of pancreas physiology | An anomaly of the function of the pancreas. |
| deviation of the hand or of fingers of the hand | Displacement of the hand or of fingers of the hand from their normal position. |
| diabetic ketoacidosis | OMIM mapping confirmed by DO. [SN]. |
| rarefaction of retinal pigmentation | |
| c1-c2 vertebral abnormality | Any abnormality of the atlas and the axis. |
| no social interaction | |
| hyperextensibility at wrists | The ability of the wrist joints to move beyond their normal range of motion. |
| bifid femur | A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. |
| long metacarpals | An abnormally increased length of the metacarpal bones. |
| abdominal symptom | |
| abnormality of the skin | An abnormality of the skin. |
| retinal degeneration | |
| dysostosis multiplex | |
| abnormality of lower lip | An abnormality of the lower lip. |
| duplication of the distal phalanx of the 3rd finger | Partial or complete duplication of the distal phalanx of middle finger. |
| olivopontocerebellar atrophy | A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. |
| sensorineural hearing impairment | a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear |
| hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| uterine leiomyosarcoma | The presence of a leiomyosarcoma of the uterus. |
| abnormality of the pectoral muscle | An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. |
| hand clenching | An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. |
| thick anterior alveolar ridges | |
| hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| triangular epiphyses of the phalanges of the hand | A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. |
| macular coloboma | A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. |
| flaring of lower rib cage | |
| horseshoe kidney | A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. |
| streak ovary | A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. |
| fused labia minora | Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. |
| severe hydrops fetalis | |
| hypochromic anemia | |
| abnormality of descemet's membrane | Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. |
| chronic lymphocytic meningitis | |
| cervical subluxation | A partial dislocation of one or more intervertebral joints in the cervical vertebral column. |
| intestinal pseudo-obstruction | |
| motor tics | Movement-based tics affecting discrete muscle groups. |
| pterygium | A fleshy mass of thickened conjunctiva that grows over part of the cornea usually from the inner side of the eyeball and causes a disturbance of vision. |
| malabsorption | Impaired ability to absorb one or more nutrients from the intestine. |
| 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. |
| anxiety (with pheochromocytoma) | |
| abnormality of the sclera | An abnormality of the sclera. |
| increased variability in muscle fiber diameter | An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. |
| flat capital femoral epiphysis | An abnormal flattening of the proximal epiphysis of the femur. |
| limited neck range of motion | |
| dyscalculia | A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. |
| deviation of the 2nd finger | Displacement of the 2nd finger from its normal position. |
| renal duplication | A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. |
| submucous cleft lip | A cleft of the lip with overlying mucous membrane. |
| aplasia/hypoplasia involving the pelvis | |
| corneal scarring | |
| pulmonary artery aneurysm | An aneurysm (localized balloon-like outward bulging) in the pulmonary artery. |
| phenotypic abnormality | A phenotypic abnormality. |
| radial deviation of the 3rd finger | Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). |
| fibroma of the breast | The presence of a fibroma of the breast. |
| aplastic pubic bones | |
| dagger-shaped pulp calcifications | Dagger-shaped calcifications in the dental pulp. |
| sirenomelia | A developmental defect in which the legs are fused together. |
| pericardial effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| abnormality of circulating adrenocorticotropin level | An abnormal concentration of corticotropin in the blood. |
| meningocele | |
| narrow sacroiliac notch | The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. |
| fasting hypoglycemia | |
| ridged fingernail | Longitudinal, linear prominences in the fingernail plate. |
| leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| abnormality of the radial head | |
| abnormality of saccadic eye movements | An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. |
| corneal crystals | |
| restrictive behavior | Behavior characterized by an abnormal limitation to few interests and activities. |
| abnormality of the nasolabial region | |
| pancreatic adenocarcinoma | A pancreatic carcinoma that derives_from epithelial cells of glandular origin. |
| peripheral pulmonary artery stenosis | Stenosis of a peripheral branch of the pulmonary artery. |
| hyperkinesis | Motor hyperactivity with excessive movement of muscles of the body as a whole. |
| intestinal edema | Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. |
| wide mouth | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| increased serum iduronate sulfatase activity | An increased rate of iduronate-2-sulfatase activity in the blood. |
| nevus | |
| low-molecular-weight proteinuria | Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). |
| recurrent thrombophlebitis | Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). |
| triangular shaped middle phalanx of the 3rd finger | Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| ataxia | |
| abnormality of somatosensory evoked potentials | An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. |
| limited elbow movement | |
| erythroid hyperplasia | Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. |
| long fingers | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| recurrent cerebral hemorrhage | Recurrent bleeding into the parenchyma of the brain. |
| methylmalonic aciduria | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| generalized opacification of the cornea | Generalized reduced transparency of the stroma of the cornea. |
| abnormality of the uvea | An abnormality of the uvea, the vascular layer of the eyeball. |
| nemaline bodies | Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. |
| diffuse demyelination of the cerebral white matter | A diffuse loss of myelin from nerve fibers in the central nervous system. |
| meningitis | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
| abnormality of female external genitalia | An abnormality of the female external genitalia. |
| descemet membrane folds | Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea. |
| reduced number of intrahepatic bile ducts | The presence of reduced numbers of intrahepatic bile duct than normal. |
| abnormality of tyrosine metabolism | An abnormality of a tyrosine metabolic process. |
| small epiphyses | Reduction in the size or volume of epiphyses. |
| slender build | Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. |
| underdeveloped antitragus | Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. |
| long coccyx | |
| lipemia retinalis | A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. |
| peripheral schwannoma | The presence of a peripheral schwannoma. |
| excessive daytime sleepiness | |
| hallux varus | Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. |
| absent radius | Missing radius bone associated with congenital failure of development. |
| constrictive pericarditis | |
| abnormality of extrapyramidal motor function | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| slow saccadic eye movements | An abnormally slow velocity of the saccadic eye movements. |
| gastrointestinal obstruction | |
| myoglobinuria | Presence of myoglobin in the urine. |
| gaze-evoked horizontal nystagmus | Horizontal nystagmus made apparent by looking to the right or to the left. |
| abnormal autonomic nervous system physiology | A functional abnormality of the autonomic nervous system. |
| abnormality of the musculature of the thorax | A disease or lesion affecting the muscles of the thorax. |
| intractable diarrhea | |
| wide cranial sutures | An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). |
| abnormal monocyte count | An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. |
| total cataract | A Congenital cataract characterized by an opacity of all the fibers of a lens. |
| pulmonary infiltrates | |
| abnormality of the cardiovascular system | Any abnormality of the cardiovascular system. |
| short columella | Reduced distance from the anterior border of the naris to the subnasale. |
| cartilaginous ossification of larynx | Ossification affecting the set of cartilages of larynx. |
| abnormality of the proximal phalanx of the 5th finger | Abnormality of the proximal phalanx of the little (5th) finger. |
| bladder fistula | The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. |
| abnormality of the rectum | An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. |
| facial diplegia | Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). |
| late-onset proximal muscle weakness | Lack of strength of the proximal musculature occuring late in the clinical course. |
| anterior sacral meningocele | |
| periosteal thickening of long tubular bones | Thickening of the periosteum of long bone. |
| uric acid nephrolithiasis | |
| abnormality of the epiphysis of the middle phalanx of the 5th finger | Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. |
| absence of intrinsic factor | Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. |
| increased intraabdominal fat | An abnormal increase in the amount of intraabdominal fat tissue. |
| abnormality of carbohydrate metabolism/homeostasis | An abnormality of the metabolism/homeostasis of a carbohydrate. |
| premature loss of teeth | Premature loss of teeth not related to trauma or neglect. |
| aplasia/hypoplasia of the mandible | Absence or underdevelopment of the mandible. |
| decreased t cell activation | |
| diffuse palmoplantar hyperkeratosis | |
| 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. |
| abnormal atrial arrangement | Abnormality of the spatial relationship of the atria to other components of the heart. |
| sclerosis of distal finger phalanx | An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| abnormality of the ulna | An abnormality of the ulna bone of the forearm. |
| progressive extrapyramidal movement disorder | |
| abnormality of the supraorbital ridges | An anomaly of the supraorbital portion of the frontal bones. |
| misalignment of incisors | Misaligned incisor. |
| abnormal morphology of ulna | |
| vitamin b12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| map-dot-fingerprint corneal dystrophy | |
| prolactin excess | |
| bipartite calcaneus | A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. |
| tics | |
| violent behavior | |
| abnormality of the coagulation cascade | An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. |
| unilateral polymicrogyria | Excessive number of small gyri (convolutions) on the surface of one side of the brain. |
| nephroblastomatosis | Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. |
| hypocalcemic seizures | |
| abnormal circulating renin | |
| cerebral arteriovenous malformation | |
| abnormal retinal folds | |
| aplasia/hypoplasia of the epiglottis | This term applies if the Epiglottis is absent or hypoplastic. |
| absent outer dynein arms | Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| spontaneous hematomas | Spontaneous development of hematomas (hematoma) or bruises without significant trauma. |
| chromosomal breakage induced by crosslinking agents | Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. |
| hydropic placenta | An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. |
| proximal fibular overgrowth | Overgrowth of the proximal part of the fibula. |
| abnormality of glycosaminoglycan metabolism | Abnormality of glycosaminoglycan metabolism. |
| abnormality of the extrinsic pathway | An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. |
| neoplasm of the skeletal system | A tumor (abnormal growth of tissue) of the skeleton. |
| symphalangism of middle phalanx of 5th finger | Fusion of the middle phalanx of the 5th finger with another bone. |
| breast carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| bifid sacrum | Presence of a bifid sacral bone. |
| epistaxis | Bleeding from the nose. |
| low-frequency sensorineural hearing impairment | A form of sensorineural hearing impairment that affects primarily the lower frequencies. |
| calf muscle pseudohypertrophy | Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. |
| absent fifth toenail | |
| prominent coccyx | |
| periodic hypokalemic paresis | Episodes of muscle weakness associated with reduced levels of potassium in the blood. |
| multicentric ossification of proximal femoral epiphyses | |
| pseudoepiphyses of second metacarpal | |
| abnormal pancreas size | A deviation from the normal size of the pancreas. |
| neonatal short-trunk short stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. |
| autoimmune antibody positivity | The presence of an antibody directed against the organism's own cells or tissues. |
| progressive gait ataxia | A type of gait ataxia displaying progression of clinical severity. |
| abnormal urine sodium concentration | An abnormal concentration of sodium in the urine. |
| abnormality of skeletal morphology | An abnormality of the form, structure, or size of the skeletal system. |
| speech apraxia | A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. |
| cortical thickening of long bone diaphyses | Abnormal thickening of the cortex of the diaphyseal region of long bones. |
| punctate opacification of the cornea | Punctate opacification (reduced transparency) of the corneal stroma. |
| cerebral amyloid angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| limitation of joint mobility | A reduction in the freedom of movement of one or more joints. |
| joint hemorrhage | |
| calcific mitral stenosis | Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets. |
| aplasia/hypoplasia of metatarsal bones | Absence or underdevelopment of the metatarsal bones. |
| laterally curved eyebrow | |
| ulnar bowing | Bending of the diaphysis (shaft) of the ulna. |
| abnormal vestibulo-ocular reflex | An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. |
| intervertebral space narrowing | Decreased height of the intervertebral disk. |
| aplasia/hypoplasia of the distal phalanges of the hand | Absence or underdevelopment of the distal phalanges. |
| lack of insight | |
| doll-like facies | A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. |
| confetti-like hypopigmented macules | |
| upper eyelid coloboma | A short discontinuity of the margin of the upper eyelid. |
| polyarticular chondrocalcinosis | |
| hypocortisolemia | A reduced concentration of cortisol in the blood. |
| knee dislocation | |
| discrete 2 to 5-mm hyper- and hypopigmented macules | |
| restricted neck movement due to contractures | |
| decreased palmar creases | Poorly defined or shallow palmar creases. |
| abnormal vertebral pedicle morphology | Abnormal morphology of a vertebral pedical. |
| agenesis of permanent teeth | A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. |
| deeply set eye | |
| decreased numbers of nephrons | A reduction in the count of nephrons per kidney. |
| absent lacrimal punctum | No identifiable superior and/or inferior lacrimal punctum. |
| multicentric ossification of proximal humeral epiphyses | |
| short nail | Decreased length of nail. |
| hyperapobetalipoproteinemia | Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. |
| synostosis involving the 4th metacarpal | |
| hypoplastic left atrium | |
| aplasia/hypoplasia of the uterus | Absence or developmental hypoplasia of the uterus. |
| extraadrenal pheochromocytoma | An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. |
| hyporeflexia of upper limbs | Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. |
| abnormal tendon morphology | An abnormality of the structure or form of the tendons, also often called sinews. |
| morphological abnormality of the vestibule of the inner ear | A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. |
| benign neoplasm of the central nervous system | |
| absent forearm | |
| accelerated atherosclerosis | |
| cervical cord compression | Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. |
| coxa magna | Widening of the femoral head and neck. |
| abnormal glucose homeostasis | Abnormality of glucose homeostasis. |
| short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| choroidal sclerosis | OMIM mapping confirmed by DO. [SN]. |
| abnormality of skin adnexa | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| intermittent hyperventilation | Episodic hyperventilation. |
| optic atrophy | Xref MGI. |
| abnormality of limb bone | |
| neonatal death | Death within the first 28 days of life. |
| neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| decreased methylmalonyl-coa mutase activity | An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. |
| multiple enchondromatosis | |
| abnormally folded helix | |
| intermittent hyperpnea at rest | |
| alopecia universalis | |
| abnormality of the mitral valve | An abnormality of the mitral valve. |
| hodgkin lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| congenital hepatic fibrosis | The presence of fibrosis of that part of the liver with congenital onset. |
| muscular edema | |
| dorsal subluxation of ulna | Partial dislocation of the ulna in the dorsal direction. |
| cerulean cataract | Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. |
| abnormality of orotic acid metabolism | An abnormality of the metabolism of orotic acid. |
| immotile cilia | |
| pseudohypoaldosteronism | |
| abnormality of neutrophil physiology | A functional abnormality of neutrophils. |
| abnormality of glycine metabolism | An abnormality of a glycine metabolic process. |
| genital tract atresia | Congenital occlusion of a tube in the genital tract. |
| abnormality of globe location | An abnormality in the placement of the ocular globe (eyeball). |
| absent facial hair | Absence of facial hair. |
| peripheral dysmyelination | Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. |
| reduced amplitude of b-wave (erg) | An abnormal reduction in the amplitude of the b-wave in electroretinography. |
| abnormality of the scapula | Any abnormality of the scapula, also known as the shoulder blade. |
| dilatation of the bladder | The presence of a dilated urinary bladder. |
| mandibulofacial dysostosis | OMIM mapping confirmed by DO. [SN]. |
| microscopic hematuria | Microscopic hematuria detected by dipstick or microscopic examination of the urine. |
| elongated radius | Increased length of the radius. |
| mania | A state of abnormally elevated or irritable mood, arousal, and or energy levels. |
| secundum atrial septal defect | A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. |
| rough bone trabeculation | |
| thickened cortex of bones | An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. |
| alveolar cell carcinoma | Adenocarcinoma of the Bronchus. |
| bulbous tips of toes | An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. |
| congenital laryngeal stridor | |
| mesomelic leg shortening | Shortening of the middle parts of the leg in relation to the upper and terminal segments. |
| flattened femoral epiphysis | An abnormal flattening of an epiphysis of femur. |
| metatarsal diaphyseal endosteal sclerosis | Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. |
| abnormality of t cells | An abnormality of T cells. |
| femoral bowing | Bowing (abnormal curvature) of the femur. |
| autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| decreased corneal reflex | An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. |
| abnormality of dicarboxylic acid metabolism | An abnormality of dicarboxylic acid metabolism. |
| elevated levels of phytanic acid | An abnormal elevation of phytanic acid. |
| flexion contracture of thumb | Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. |
| cone-shaped epiphyses of phalanges 2 to 5 | |
| projectile vomiting | Vomiting that ejects the gastric contents with great force. |
| psychomotor deterioration | Loss of previously present mental and motor abilities. |
| erythroid hypoplasia | Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. |
| multiple prenatal fractures | The presence of bone fractures in the prenatal period that are diagnosed at birth or before. |
| abnormality of cells of the granulocytic lineage | An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. |
| reduced subcutaneous adipose tissue | The presence of an abnormally reduced amount of subcutaneous adipose tissue. |
| lipomatous tumor | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| cuboid-shaped vertebral bodies | |
| focal seizures | Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. |
| sclerosis of skull base | Increased bone density of the skull base without significant changes in bony contour. |
| abnormality of the femur | Abnormality of the femur. |
| xerostomia | Dryness of the mouth due to salivary gland dysfunction. |
| communicating hydrocephalus | |
| severe carpal ossification delay | |
| sparse bone trabeculae | |
| sparse eyelashes | Decreased density/number of eyelashes. |
| short fourth metatarsal | Short fourth metatarsal bone. |
| generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| decreased achilles reflex | Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. |
| proximal renal tubular acidosis | A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. |
| impaired pain sensation | Reduced ability to perceive painful stimuli. |
| abnormality of upper limb joint | |
| joint contracture of the 5th finger | Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. |
| lung segmentation defects | |
| multiple joint contractures | |
| oral leukoplakia | A white patch on the oral mucosa that cannot be rubbed off. |
| abnormality of the pancreatic islet cells | An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. |
| precocious atherosclerosis | |
| prolonged prothrombin time | Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. |
| abnormal leukocyte count | Number of leukocytes per volume of blood beyond normal limits. |
| subaortic stenosis | |
| hypoplastic ischia | Underdevelopment of the ischium, which forms the lower and back part of the hip bone. |
| optic disc drusen | Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. |
| intermittent lactic acidemia | An intermittent (discontinuous) form of lactic acidemia. |
| pugilistic facies | Coarse facial features reminiscent of those of a boxer. |
| abnormality of long bone morphology | An abnormality of size or shape of the long bones. |
| poor wound healing | A reduced ability to heal cutaneous wounds. |
| thickened helices | Increased thickness of thehelix of the ear. |
| chromosomal breakage induced by ionizing radiation | Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. |
| decreased number of cd8+ t cells | A decreased count of circulating CD8-positive, alpha-beta regulatory T cells. |
| 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. |
| abnormality of the lymphatic system | |
| long fibula | Disproportionately long fibulae. |
| multiple rows of eyelashes | |
| mesangial abnormality | An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. |
| absent/shortened outer dynein arms | |
| flared nostrils | |
| refractory macrocytic anemia | |
| persistent left superior vena cava | |
| heinz body anemia | Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. |
| anterior clefting of vertebral bodies | Anterior schisis (cleft or cleavage) of vertebral bodies. |
| short humerus | Underdevelopment of the humerus. |
| atrial cardiomyopathy | |
| facial hemangioma | Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. |
| fever | Elevated body temperature due to failed thermoregulation. |
| pectus excavatum | A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. |
| decreased serum estradiol | |
| unilateral vestibular schwannoma | A unilateral vestibular Schwannoma (acoustic neurinoma). |
| subcortical dementia | A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. |
| malar anomaly | An anomaly of frontal process of maxilla. |
| bilateral cleft lip and palate | Cleft lip and cleft palate affecting both sides of the face. |
| abnormality of the musculature | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| 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. |
| complement deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| disproportionate short-trunk short stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. |
| episodic ketoacidosis | Intermittent episodes of ketoacidosis. |
| 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. |
| negative nitroblue tetrazolium (nbt) reduction test | In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. |
| edema of the dorsum of feet | An abnormal accumulation of fluid beneath the skin on the back of the feet. |
| neoplasm of the larynx | |
| duplication of bones involving the upper extremities | |
| long proximal phalanx of finger | Increased length of the proximal phalanx of finger. |
| pulmonary artery dilatation | An abnormal widening of the diameter of the pulmonary artery. |
| neuropathic arthropathy | |
| abnormality of the epiphyses of the 3rd finger | Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. |
| midline facial capillary hemangioma | |
| restrictive cardiomyopathy | Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. |
| muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| abnormality of the patella | Abnormality of the patella (knee cap). |
| shortened outer dynein arms | |
| blood group antigen abnormality | An abnormality of an erythrocyte cell surface molecule. |
| broad hallux phalanx | An increase in width in one or more phalanges of the big toe. |
| hemeralopia | A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. |
| platyspondyly | A flattened vertebral body shape with reduced distance between the vertebral endplates. |
| widow's peak | Frontal hairline with bilateral arcs to a low point in the midline of the forehead. |
| hypoplastic spinal processes | |
| papillary thyroid carcinoma | A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. |
| long penis | Penile length more than 2 SD above the mean for age. |
| disseminated intravascular coagulation | |
| abnormality of glycolysis | An abnormality of glycolysis. |
| dysplastic corpus callosum | Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. |
| inappropriate sexual behavior | |
| anterior hypopituitarism | A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. |
| low-set, posteriorly rotated ears | Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). |
| broad middle phalanx of finger | Increased width of the middle phalanx of finger. |
| gonadal tissue inappropriate for external genitalia or chromosomal sex | |
| mesomelic short stature | A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). |
| spondylolisthesis | A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. |
| recurrent aspiration pneumonia | Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. |
| nephrolithiasis | Formation of stones in the KIDNEY. |
| hyposegmentation of neutrophil nuclei | |
| maternal hyperphenylalaninemia | A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. |
| compensated hemolytic anemia | |
| abnormality of the optic disc | A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. |
| patellar aplasia | Absence of the patella. |
| metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| developmental stagnation at onset of seizures | A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. |
| hallux valgus | Lateral deviation of the great toe (i.e., in the direction of the little toe). |
| spastic tetraparesis | Spastic weakness affecting all four limbs. |
| hip osteoarthritis | |
| long palm | For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. |
| abnormality of dermal melanosomes | An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). |
| projection of scalp hair onto lateral cheek | An tongue-like extension of hair towards the cheeks. |
| abnormality of leucine metabolism | Abnormality of a leucine metabolic process. |
| sparse scalp hair | Decreased number of head hairs per unit area. |
| abnormality of b cell number | A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. |
| periorbital edema | Edema affecting the region situated around the orbit of the eye. |
| severe lactic acidosis | A severe form of lactic acidemia. |
| abnormal tarsal ossification | An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| generalized hyperpigmentation | |
| acute hepatic steatosis | An acute form of hepatic steatosis. |
| ventricular extrasystoles | Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. |
| deep anterior chamber | Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. |
| thromboembolic stroke | A cerebrovascular accident (stroke) that occurs because of thromboembolism. |
| wide nose | Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. |
| aplasia/hypoplasia of the distal phalanx of the thumb | |
| recurrent encephalopathy | Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. |
| proximal placement of thumb | Proximal mislocalization of the thumb. |
| autoimmune thrombocytopenia | |
| urethral fistula | The presence of an abnormal connection between the urethra and another organ or the skin. |
| abnormality of the renal cortex | An abnormality of the cortex of the kidney. |
| abnormality of the ventricular septum | An abnormality of the interventricular septum. |
| increased carrying angle | An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. |
| stillbirth | Death of the fetus in utero after at least 20 weeks of gestation. |
| macrodactyly | Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. |
| squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| striae distensae | Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. |
| ungual fibroma | Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate). |
| reduced factor xiii activity | Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. |
| recurrent e. coli infections | Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. |
| histidinuria | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| large hyperpigmented retinal spots | |
| macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| increased anterioposterior diameter of thorax | |
| hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| arnold-chiari malformation | Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. |
| abnormality of the musculature of the pelvis | |
| clinodactyly of the 5th toe | Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). |
| large vessel vasculitis | A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. |
| premature graying of hair | Development of gray hair at a younger than normal age. |
| venous insufficiency | A vein disease that is characterized by impaired flow of blood through the veins. |
| biconcave vertebral bodies | Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. |
| bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. |
| hyperprostaglandinuria | An increased concentration of prostaglandin in the urine. |
| recurrent mycobacterial infections | Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. |
| widened proximal tibial metaphyses | |
| abnormality of the fetal cardiovascular system | An abnormality of the fetal circulation system or fetal echocardiogram. |
| demyelinating motor neuropathy | Demyelination of peripheral motor nerves. |
| aplasia/hypoplasia of the eyebrow | Absence or underdevelopment of the eyebrow. |
| scapuloperoneal amyotrophy | Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. |
| hyperlipoproteinemia | An abnormal increase in the level of lipoprotein cholesterol in the blood. |
| hypoplasia of the pons | Underdevelopment of the pons. |
| type 2 muscle fiber predominance | An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). |
| trapezoidal distal femoral condyles | |
| diffuse swelling of cerebral white matter | |
| deposits immunoreactive to beta-amyloid protein | |
| limited knee flexion | |
| shallow orbits | Reduced depth of the orbits associated with prominent-appearing ocular globes. |
| increased hepatocellular lipid droplets | An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. |
| migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| flexion contracture of toe | One or more bent (flexed) toe joints that cannot be straightened actively or passively. |
| autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| intracranial cystic lesion | A cystic lesion originating within the brain. |
| thin vermilion border | Reduced width of the skin of vermilion border region of upper lip (FMA:312645). |
| cerebral calcification | The presence of calcium deposition within brain structures. |
| aplasia of the ovary | Aplasia, that is failure to develop, of the ovary. |
| sea-blue histiocytosis | An abnormality of macrophages, also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. |
| abnormality of nitrogen compound homeostasis | The presence of an abnormal concentration of nitrogen compounds. |
| micromelia | The presence of abnormally small extremities. |
| abnormality of the 3rd metacarpal | Any abnormality of the third metacarpal bone. |
| 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). |
| adrenal hyperplasia | Enlargement of the adrenal gland. |
| triangular shaped phalanges of the 2nd finger | Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| abnormality of the palate | Any abnormality of the palate, i.e., of roof of the mouth). |
| multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| anonychia | Aplasia of the nail. |
| mildly elevated creatine phosphokinase | |
| abnormality of the posterior hairline | An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not. |
| mild postnatal growth retardation | A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. |
| foot polydactyly | A kind of polydactyly characterized by the presence of a supernumerary toe or toes. |
| cerebral ischemia | |
| limbic malformations | |
| disproportionate short-limb short stature | A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. |
| hypomimic face | A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. |
| ectopic ossification in ligament tissue | Formation of abnormal bony tissue within ligament tissue. |
| decreased number of small peripheral myelinated nerve fibers | |
| oxycephaly | Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. |
| chronic otitis media | Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. |
| wrist flexion contracture | A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. |
| multiple plantar creases | |
| uterine neoplasm | A tumor (abnormal growth of tissue) of the uterus. |
| abnormality of the mandible | Any abnormality of the mandible, the bone of the lower jaw. |
| short middle phalanx of finger | Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. |
| chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| reduced von willebrand factor activity | Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. |
| absence seizures | Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures. |
| cutaneous leiomyosarcoma | |
| abnormality of the sinuses | Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. |
| primary hypothyroidism | A type of hypothyroidism that results from a defect in the thyroid gland. |
| spasticity of pharyngeal muscles | |
| decreased circulating acth level | An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. |
| delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| abnormality of the pubic hair | Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. |
| elevated urinary dopamine | An increased concentration of dopamine in the urine. |
| porokeratosis | Xref MGI. |
| benign genitourinary tract neoplasm | A non-malignant neoplasm of the genitourinary system. |
| abnormality of proteoglycan metabolism | An abnormality of proteoglycan metabolism. |
| aplasia/hypoplasia of the spleen | Absence or underdevelopment of the spleen. |
| paraparesis | Weakness or partial paralysis in the lower limbs. |
| mixed respiratory and metabolic acidosis | |
| cleft eyelid | A short discontinuity of the margin of the lower or upper eyelid. |
| aplasia/hypoplastia of the eccrine sweat glands | Absence or developmental hypoplasia of the eccrine sweat glands. |
| retinal telangiectasia | |
| tibial torsion | Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. |
| rhabdomyolysis | Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. |
| xanthinuria | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. |
| motor axonal neuropathy | Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. |
| obliteration of the pulp chamber | Obliteration of the pulp chambers owing to mineralization of the dental pulp. |
| megaloblastic bone marrow | Abnormal increased number of megaloblasts in the bone marrow. |
| elevated intracellular cystine | An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. |
| cold-induced hand cramps | |
| ectopia pupillae | A malposition of the pupil owing to a developmental defect of the iris. |
| thin ribs | Ribs with a reduced diameter. |
| epilepsia partialis continua | A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals. |
| subglottic stenosis | |
| hypokalemic metabolic alkalosis | |
| generalized hirsutism | Abnormally increased hair growth over much of the entire body. |
| slow-growing hair | Hair whose growth is slower than normal. |
| clitoromegaly | Increased size of the clitoris. |
| muscle abnormality related to mitochondrial dysfunction | |
| abnormality of the macula | An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. |
| elevated 7-dehydrocholesterol | Elevated 7-dehydrocholesterol levels. |
| arteriosclerosis of small cerebral arteries | Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. |
| decreased liver function | Reduced ability of the liver to perform its functions. |
| polycystic liver disease | |
| abnormality of the styloid process of ulna | |
| spastic diplegia | A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. |
| decreased lacrimation | Abnormally decreased lacrimation, that is, reduced ability to produce tears. |
| camptodactyly of toe | Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. |
| partial duplication of the distal phalanx of the 3rd finger | Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. |
| medial calcification of large arteries | Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. |
| autistic behavior | |
| mask-like facies | A lack of facial expression often with staring eyes and a slightly open mouth. |
| anterior creases of earlobe | Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. |
| septate vagina | The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. |
| abnormality of skull ossification | An abnormality of the process of ossification of the skull. |
| overgrowth of external genitalia | |
| small, conical teeth | |
| perineal fistula | The presence of a fistula between the bowel and the perineum. |
| hyposerinemia | Reduced concentration of serine in the blood. |
| shortening of the tibia | |
| synostosis of carpals/tarsals | The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. |
| joint contractures involving the joints of the feet | Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| recurrent aphthous stomatitis | disease cluster belonging to disease group other |
| gonadal dysgenesis, male | |
| anemia of inadequate production | A kind of anemia characterized by inadequate production of erythrocytes. |
| neurodevelopmental delay | |
| neoplasm of the adrenal medulla | The presence of a neoplasm of the adrenal medulla. |
| abnormality of the musculature of the upper arm | |
| gonadotropin deficiency | A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). |
| arachnoid hemangiomatosis | The presence of multiple hemangiomas in the arachnoid. |
| abnormality of vision evoked potentials | An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. |
| ventriculomegaly | An increase in size of the ventricular system of the brain. |
| crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| patchy alopecia | |
| progressive inspiratory stridor | |
| decreased serum progesterone | |
| localized epidermolytic hyperkeratosis | |
| endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| absence of subcutaneous fat | Lack of subcutaneous adipose tissue. |
| lymphoproliferative disorder | |
| csf pleocytosis | An increased white blood cell count in the cerebrospinal fluid. |
| increased serum 1,25-dihydroxyvitamin d3 | |
| diastasis recti | A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). |
| speckled corneal dystrophy | |
| recurrent fractures | The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture). |
| thickened calvaria | The presence of an abnormally thick calvaria. |
| hemihypotrophy of lower limb | Shortening of a leg affecting only one side. |
| peripheral primitive neuroectodermal neoplasm | A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. |
| unilateral primary pulmonary dysgenesis | |
| breast hypoplasia | Underdevelopment of the breast. |
| chronic calcifying pancreatitis | A form of chronic pancreatitis that is characterized by calcification. |
| neoplasm | A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. |
| hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| cephalocele | A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. |
| dysplastic distal thumb phalanges with a central hole | |
| semilobar holoprosencephaly | A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. |
| absent gallbladder | A developmental defect in which the gallbladder fails to form. |
| ambiguous genitalia, female | Ambiguous genitalia in an individual with XX genetic gender. |
| dermal atrophy | |
| postauricular skin tag | A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). |
| abnormality of the labia majora | An anomaly of the outer labia. |
| abnormality of the genital system | An abnormality of the genital system. |
| lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| retrocerebellar cyst | |
| aplasia/hypoplasia of the choroid | Absence or underdevelopment of the choroid. |
| limited hip movement | A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. |
| blotching pigmentation of the skin | |
| abnormality of the humerus | An abnormality of the humerus (i.e., upper arm bone). |
| paraganglioma-related cranial nerve palsy | A cranial nerve palsy associated with a paraganglioma of the head or neck. |
| homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| abnormal spermatogenesis | Incomplete maturation or aberrant formation of the male gametes. |
| hypermagnesiuria | An increased concentration of magnesium the urine. |
| irregular metacarpals | Irregular morphology of one or more metacarpal bones. |
| congenital malformation of the great arteries | |
| motor aphasia | Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. |
| impaired renal uric acid clearance | A reduction in the ability of the kidneys to remove uric acid from the serum. |
| joint dislocation | Displacement or malalignment of joints. |
| peripapillary chorioretinal atrophy | Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). |
| neuroblastic tumors | Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. |
| polymicrogyria, anterior to posterior gradient | |
| long hallux | Increased length of the big toe. |
| triangular shaped phalanges of the 5th finger | Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| narrow foot | A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. |
| subependymal cysts | |
| antineutrophil antibody positivity | The presence of autoantibodies in the serum that react against neutrophils. |
| commissural lip pit | A depression located at an oral commissure. |
| 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. |
| frontal cortical atrophy | Atrophy of the frontal cortex. |
| abnormality of lens shape | An abnormal shape of the lens. |
| abnormal size of pituitary gland | A deviation from the normal size of the pituitary gland. |
| facial shape deformation | |
| hypertension associated with pheochromocytoma | A type of hypertension associated with pheochromocytoma. |
| decreased beta-galactosidase activity | Abnormally decreased rate of beta-galactosidase activity. |
| insulin resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| vitamin k deficiency | |
| opacification of the corneal epithelium | Lack of transparency of the corneal epithelium. |
| subcortical cerebral atrophy | Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. |
| hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| midline facial cleft | A congenital malformation with a cleft (gap or opening) in the midline of the face. |
| narrow pelvis | Reduced side to side width of the pelvis. |
| cognitive impairment | Abnormality in the process of thought including the ability to process information. |
| abnormal urine potassium concentration | An abnormal concentration of potassium(1+) in the urine. |
| absent pubic hair | Absence of pubic hair. |
| increased adipose tissue | An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). |
| palmar hyperhidrosis | |
| abnormality of the eye | |
| loss of voice | |
| synostosis involving metatarsal bones | |
| abnormal synaptic transmission at the neuromuscular junction | Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. |
| language impairment | |
| low anterior hairline | Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. |
| abnormality of the uvula | Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. |
| abnormality of lateral ventricle | A morphological anomal of the lateral ventricle. |
| demyelinating peripheral neuropathy | Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. |
| small earlobe | Reduced volume of the earlobe. |
| fructose intolerance | |
| small forehead | The presence of a forehead that is abnormally small. |
| tortuous cerebral arteries | Excessive bending, twisting, and winding of a cerebral artery. |
| muscular hypotonia | Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. |
| decreased serum complement c9 | |
| palpitations (with pheochromocytoma) | |
| decreased serum complement c3 | |
| chronic rhinitis due to narrow nasal airway | |
| abnormality of chromosome segregation | An abnormality of chromosome segregation. |
| hypoplasia of the ciliary body | Underdevelopment of the ciliary body. |
| congenital contracture | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| loss of subcutaneous adipose tissue in limbs | Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. |
| intestinal bleeding | Bleeding from the intestines. |
| prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| non-caseating epithelioid cell granulomatosis | The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). |
| morbus scheuermann | |
| advanced ossification of carpal bones | Ossification of carpal bones at an abnormally early age. |
| 6 metacarpals | |
| hyperconvex fingernails | When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. |
| abnormality of higher mental function | Cognitive, psychiatric or memory anomaly. |
| absence of visual evoked potentials | |
| elevated erythrocyte sedimentation rate | |
| decreased urinary urate | Decreased concentration of urate in the urine. |
| peripheral retinal pigmentation abnormalities | |
| absent glenoid fossa | Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. |
| recurrent pancreatitis | A recurrent form of pancreatitis. |
| disproportionate shortening of the tibia | |
| complete heart block with broad rs complexes | |
| decreased number of large peripheral myelinated nerve fibers | A reduced number of large myelinated nerve fibers. |
| recurrent lower respiratory tract infections | An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. |
| 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. |
| lymphadenopathy | Enlargment (swelling) of a lymph node. |
| saccadic smooth pursuit | An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. |
| mild global developmental delay | A mild delay in the achievement of motor or mental milestones in the domains of development of a child. |
| paraganglioma of head and neck | |
| longitudinal vaginal septum | The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. |
| hypoplasia of the corpus callosum | Underdevelopment of the corpus callosum. |
| reduced protein c activity | |
| recurrent loss of toenails and fingernails | Recurrent loss, or shedding, of the nails of the fingers and toes. |
| subcutaneous nodule | Slightly elevated lesions on or in the skin with a diameter of over 5 mm. |
| episodic hyperhidrosis | Intermittent episodes of abnormally increased perspiration. |
| rotary nystagmus | A form of nystagmus in which the eyeball makes rotary motions around the axis. |
| bilateral cleft palate | Nonmidline cleft palate on the left and right sides. |
| agnosia | A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. |
| multiple small vertebral fractures | |
| aplasia of the semicircular canal | Absence of the semicircular canal. |
| eruptive xanthomas | Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. |
| sensory ataxic neuropathy | |
| muscle fiber atrophy | |
| mandibular condyle aplasia | |
| inflammatory abnormality of the eye | Inflammation of the eye, parts of the eye or the periorbital region. |
| cerebral vasculitis | Inflammation of the blood vessels within the brain. |
| glutathione synthetase deficiency | |
| double outlet right ventricle | OMIM mapping confirmed by DO. [SN]. |
| angiokeratoma | |
| increased density of long bones | An abnormal increase in the bone density of the long bones. |
| abnormality of vitamin k metabolism | Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. |
| myopathic facies | A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. |
| recurrent infections in infancy and early childhood | Recurrent infections at an early age with improvement in later childhood. |
| triangular shaped phalanges of the hand | |
| postural instability | |
| hemisacrum (s2-s5) | A hemisacral defect involving the sacral vertebrae S2 to S5. |
| intracerebral periventricular calcifications | The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. |
| horizontal pendular nystagmus | Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. |
| corneal opacity | A reduction of corneal clarity. |
| triangular shaped proximal phalanges of the hand | |
| abnormality of the nasal bone | An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. |
| linear arrays of macular hyperkeratoses in flexural areas | |
| decreased renal tubular phosphate excretion | |
| dynein arm defect of respiratory motile cilia | An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. |
| abnormality of the conjunctiva | An abnormality of the conjunctiva. |
| axenfeld anomaly | Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. |
| camptodactyly of 2nd-5th fingers | The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. |
| cerebellar cyst | |
| abnormality of amino acid metabolism | Abnormality of an amino acid metabolic process. |
| pulmonary hypoplasia | |
| myocardial infarction | Xref MGI. |
| bifid thoracic vertebrae | |
| peripheral arteriovenous fistula | |
| impaired pursuit initiation and maintenance | |
| protuberant abdomen | A thrusting or bulging out of the abdomen. |
| eye of the tiger anomaly of globus pallidus | The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. |
| bipolar affective disorder | |
| hyperactive deep tendon reflexes | |
| cerebellar hypoplasia | Underdevelopment of the cerebellum. |
| aplasia/hypoplasia involving bones of the lower limbs | Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. |
| biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| absent retinal pigment epithelium | |
| scapuloperoneal weakness | |
| abnormality of the chin | An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. |
| abnormality of cardiac atrium | An abnormality of a cardiac atrium. |
| midnasal stenosis | Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. |
| widened distal phalanges | |
| marked delay in bone age | |
| peripheral nerve compression | |
| abnormality of pain sensation | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| cardiac valve calcification | Abnormal calcification of a cardiac valve. |
| crystalline corneal dystrophy | |
| respiratory tract infection | An infection of the upper or lower respiratory tract. |
| argininuria | A increased concentration of arginine in the urine. |
| pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| thick corpus callosum | Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. |
| status epilepticus | |
| tetraparesis | Weakness of all four limbs. |
| autosomal dominant contiguous gene syndrome | |
| pancreatic squamous cell carcinoma | A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. |
| abnormality of the distal femoral epiphysis | Any abnormality of the distal epiphysis of the femur. |
| cystoid macular degeneration | A form of macular degeneration characterized by the presence of multiple cysts in the macula. |
| small distal femoral epiphysis | Reduced size of the Distal epiphysis of femur. |
| antecubital pterygium | Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. |
| small cervical vertebral bodies | Reduced size of cervical vertebrae. |
| tricuspid regurgitation | A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. |
| punctate cataract | A type of cataract with punctate opacities of the lens. |
| narrow femoral neck | An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| abnormality of the menstrual cycle | An abnormality of the ovulation cycle. |
| mydriasis | Abnormal dilatation of the iris. |
| optic disc pallor | A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. |
| ectopic anus | Abnormal displacement or malposition of the anus. |
| gingival fibromatosis | The presence of fibrosis of the gingiva. |
| abnormality of the anterior fontanelle | An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. |
| reye syndrome-like episodes | |
| papillary cystadenoma of the epididymis | The presence of a papillary cystadenoma of the epididymis. |
| abnormality of the plantar skin of foot | An abnormality of the plantar part of foot, that is of the soles of the feet. |
| abnormality of pyruvate family amino acid metabolism | An abnormality of a pyruvate family amino acid metabolic process. |
| sacrococcygeal pilonidal abnormality | The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. |
| progressive choreoathetosis | |
| hypoplasia of the brainstem | Underdevelopment of the brainstem. |
| decreased activity of cytochrome c oxidase in muscle tissue | An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. |
| decreased mitochondrial complex iii activity in liver tissue | Decreased activity of complex II Of the mitochondrion in the liver. |
| hypoplasia of the bladder | Underdevelopment of the urinary bladder. |
| depigmented lesions of the retinal pigment epithelium | |
| progressive spasticity | Spasticity that increases in degree with time. |
| choroidal dystrophy | |
| parietal bossing | Parietal bossing is a marked prominence in the parietal region. |
| hemangioblastoma | |
| craniofacial dystonia | A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. |
| natal tooth | Erupted tooth or teeth at birth. |
| absent vas deferens | Aplasia (congenital absence) of the vas deferens. |
| nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| small intestine carcinoid | |
| cochlear malformation | The presence of a malformed cochlea. |
| choroideremia | OMIM mapping confirmed by DO. [SN]. |
| large face | |
| menorrhagia | Excessive uterine bleeding during MENSTRUATION. |
| respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. |
| broad metacarpal epiphyses | Increased side-to-side width of the metacarpal epiphyses. |
| triangular-shaped open mouth | A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. |
| abnormality of phalanx of finger | Abnormalities affecting the phalanx of finger. |
| hypopigmented fundi | |
| increased cerebral lipofuscin | Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| acute megakaryocytic leukemia | |
| median cleft lip | A type of cleft lip presenting as a midline (median) gap in the upper lip. |
| hyperemesis gravidarum | Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. |
| abnormality of adrenal morphology | Any structural anomaly of the adrenal glands. |
| limited neck flexion | |
| echolalia | A speech disorder that involves the automatic repetition of vocalizations made by another person. |
| abnormality of carpal bone ossification | |
| jejunal atresia | A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. |
| anteriorly displaced genitalia | |
| stage 5 chronic kidney disease | |
| interphalangeal joint erosions | |
| ascending aortic aneurysm | A bulging, weakened area in the wall of the ascending thoracic aorta. |
| stridor | Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. |
| monochromacy | Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. |
| impaired vibration sensation at ankles | A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. |
| ventricular preexcitation with multiple accessory pathways | A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. |
| crumpled long bones | An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. |
| abnormality of male internal genitalia | An abnormality of the male internal genitalia. |
| abnormality of the eyelashes | An abnormality of the eyelashes. |
| duodenal carcinoma | |
| abnormality of the cerebral vasculature | |
| hypersegmentation of proximal phalanx of second finger | Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. |
| hypertonic dehydration | |
| aplasia/hypoplasia of the triceps | Absence or underdevelopment of the triceps muscle. |
| diffuse skin atrophy | |
| congenital palmoplantar keratosis | |
| dysharmonic bone age | Different levels of maturation of different bones. |
| perifolliculitis | Inflammation surrounding hair follicles. |
| vertical clivus | An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). |
| broad palm | For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. |
| shortening of all proximal phalanges of the fingers | Congenital hypoplasia of proximal phalanx of finger of all fingers. |
| fetal ultrasound soft marker | An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. |
| frontal encephalocele | |
| onychauxis | Thickened nails without deformity. |
| anterior open-bite malocclusion | A type of malocclusion in which there is a gap between the anterior teeth (incisors). |
| hyperaldosteronism | An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. |
| myocardial fibrosis | |
| knee flexion contracture | A bent (flexed) knee joint that cannot be straightened actively or passively. |
| cutaneous mastocytosis | |
| progressive peripheral neuropathy | |
| generalized hypopigmentation of hair | Reduced pigmentation of hair diffusely. |
| hypoplasia of the pharynx | Underdevelopment of the pharynx. |
| abnormal peripheral nervous system morphology | |
| normal pressure hydrocephalus | OMIM mapping confirmed by DO. [SN]. |
| thoracolumbar kyphoscoliosis | |
| abnormality of urine hormone level | An abnormal concentration of a hormone in the urine. |
| abnormality of mast cells | An abnormality of mast cells. |
| skin erosion | A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. |
| large joint dislocations | |
| dicarboxylic aciduria | An increased concentration of dicarboxylic acid in the urine. |
| quadriceps aplasia | Absence of the quadriceps muscle. |
| termporal pattern | The speed at which disease manifestations appear and develop. |
| achromatic retinal patches | Areas of the retina lacking pigmentation. |
| abnormal pupillary light reflex | An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. |
| increased urinary sulfite | Increased concentration of sulfate in the urine. |
| personality changes | An abnormal shift in patterns of thinking, acting, or feeling. |
| small intestinal polyposis | The presence of multiple polyps in the small intestine. |
| osteomyelitis due to immunodeficiency | |
| acrocyanosis | |
| hand muscle atrophy | Muscular atrophy involving the muscles of the hand. |
| back pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. |
| abnormality of globe size | An abnormality in the size of the ocular globe (eyeball). |
| hypoplastic-absent sebaceous glands | |
| limited pronation/supination of forearm | A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). |
| increased megakaryocyte count | Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. |
| macronodular adrenal hyperplasia | |
| abnormality of the eyebrow | An abnormality of the eyebrow. |
| gingivitis | |
| short metatarsal | Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. |
| honeycomb palmoplantar keratoderma | |
| abnormal pyramidal signs | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| skin tags | Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. |
| complete duplication of proximal phalanx of the thumb | Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| fasting hyperinsulinemia | An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. |
| elevated diastolic blood pressure | Abnormal increase in diastolic blood pressure. |
| gangrene | A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). |
| overriding aorta | An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. |
| pericardial constriction | |
| macular hypoplasia | Underdevelopment of the macula lutea. |
| myokymia | Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. |
| d-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. |
| axial malrotation of the kidney | An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. |
| ureteral duplication | A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. |
| anteriorly placed anus | Anterior malposition of the anus. |
| large cafe-au-lait macules with irregular margins | Large hypermelanotic macules with jagged borders. |
| aplasia of the nose | Complete absence of all nasal structures. |
| pectoralis hypoplasia | Underdevelopment of the pectoral muscle. |
| delayed patellar ossification | Formation of bone in the patella later than normal. |
| cortical irregularity | An abnormal irregularity of cortical bone. |
| chorioretinal dystrophy | |
| elevated follicle stimulating hormone | An elevated concentration of follicle-stimulating hormone in the blood. |
| widely patent fontanelles and sutures | An abnormally increased width of the cranial fontanelles and sutures. |
| vascular skin abnormality | |
| motor neuron atrophy | Wasting involving the motor neuron. |
| pleural effusion | The presence of an excessive amount of fluid in the pleural cavity. |
| alveolar proteinosis | Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates. |
| abnormal biliary tract morphology | A structural abnormality of the biliary tree. |
| plantar crease between first and second toes | The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. |
| hyperkalemic metabolic acidosis | |
| abnormality of central nervous system electrophysiology | |
| anencephaly | |
| marginal corneal dystrophy | |
| aortic valve atresia | A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. |
| nasal, dysarthic speech | |
| abnormality of the foramen magnum | Any abnormality of the foramen magnum. |
| abnormal pigmentation of the oral mucosa | An abnormality of the pigmentation of the mucosa of the mouth. |
| oral cavity teleangiectasia | Presence of teleangiectases in the oral cavity. |
| abnormality of the phalanges of the 3rd finger | Abnormality of the phalanges of the 3rd (middle) finger. |
| abnormality of the inner ear | An abnormality of the inner ear. |
| vertebral compression fractures | |
| hyperphenylalaninemia | An increased concentration of L-phenylalanine in the blood. |
| arterial dissection | A separation (dissection) of the layers of an artery. |
| generalized aminoaciduria | An increased concentration of all types of amino acid in the urine. |
| hypomature dental enamel | A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. |
| multifactorial inheritance | A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. |
| absent eyebrow | Absence of the eyebrow. |
| progressive sclerosis of skull base | Progressively increasing bone density of the skull base without significant changes in bony contour. |
| palmoplantar blistering | A type of blistering that affects the skin of the palms of the hands and the soles of the feet. |
| asymmetry of spinal facet joints | |
| wide intermamillary distance | A larger than usual distance between the left and right nipple. |
| spherocytosis | The presence of erythrocytes that are sphere-shaped. |
| inlet ventricular septal defect | .A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. |
| freckles in sun-exposed areas | |
| abnormality of hand joint mobility | |
| midclavicular hypoplasia | Underdevelopment of the middle portion of the clavicle. |
| abnormality of the urinary system | An abnormality of the urinary system. |
| anisocytosis | Abnormally increased variability in the size of erythrocytes. |
| delayed femoral head ossification | Delayed ossification of the femoral head. |
| long second metacarpal | |
| neonatal insulin-dependent diabetes mellitus | |
| joint swelling | |
| testicular torsion | |
| long phalanx of finger | Increased length of multiple or a single phalanx of finger. |
| hypoglycemia | |
| absent paranasal sinuses | Aplasia of the paranasal sinuses. |
| combined hyperlipidemia | |
| arteriovenous fistula | |
| antinuclear antibody positivity | The presence of autoantibodies in the serum that react against nuclei or nuclear components. |
| meconium ileus | Obstruction of the intestine due to abnormally thick meconium. |
| supernumerary nipple | Presence of more than two nipples. |
| abdominal colic | |
| triangular epiphyses of the proximal phalanges of the hand | |
| 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. |
| dyslexia | |
| gynecomastia | |
| impaired convergence | Reduced ability to turn the eyes inward in order to focus on a nearby object. |
| widely patent coronal suture | The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. |
| partial duplication of the phalanges of the hallux | |
| abnormality of the dorsal column of the spinal cord | An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. |
| retinal calcification | Deposition of calcium salts in the retina. |
| spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| aplasia/hypoplasia of the distal phalanges of the toes | Absence or underdevelopment of the distal phalanges of the toes. |
| thick cerebral cortex | |
| flattened metacarpal heads | Abnormally flat shape of the heads of the metacarpal bones. |
| glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| intercrural pterygium | A pterygium (or pterygia) in the intercrural (groin) region. |
| neoplasia of the pleura | |
| limited elbow flexion | |
| abnormality of the costochondral junction | Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. |
| abnormal hair pattern | An abnormality of the distribution of hair growth. |
| broad long bones | Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. |
| substantia nigra gliosis | The presence of gliosis in the substantia nigra. |
| disproportionate prominence of the femoral medial condyle | |
| heart block | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| renal hypoplasia/aplasia | Absence or underdevelopment of the kidney. |
| acrobrachycephaly | An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. |
| ascending aortic dissection | A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. |
| apraxia | An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. |
| supernumerary metacarpal bones | The presence of more than the normal number of metacarpal bones. |
| severe t-cell immunodeficiency | |
| progressive clavicular acroosteolysis | Progressive bone resorption in the distal part of the clavicle. |
| abducens palsy | Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. |
| abnormality of the epiglottis | An abnormality of the epiglottis. |
| abnormality of hair growth rate | Hair whose growth rate deviates from the norm. |
| aplasia cutis congenita | A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. |
| abnormal number of incisors | The presence of an altered number of of the incisor teeth.. |
| female infertility | |
| hypoplasia of the femoral head | Underdevelopment of the femoral head. |
| 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. |
| reduced catalase activity | An abnormally decreased amount of catalase activity. |
| abnormal localization of kidney | An abnormal site of the kidney. |
| acrokeratosis | Overgrowth of the stratum corneum characterized by nodular configurations of the backs of the toes and fingers. |
| retinal vascular malformation | |
| enlargement of the ankles | |
| abnormal elasticity of skin | Any abnormal increase or reduction in skin elasticity. |
| mandibular condyle hypoplasia | |
| nocturia | Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. |
| impaired vibratory sensation | A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. |
| abnormal platelet volume | Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. |
| edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| inflexible adherence to routines or rituals | |
| proximal tibial hypopolasia | Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' |
| parathyroid hyperplasia | Hyperplasia of the parathyroid gland. |
| incomplete penetrance | A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. |
| androgen insufficiency | Insufficient amount of androgenic activity. |
| abnormality of fatty-acid anion metabolism | An abnormality of fatty acid anion metabolism. |
| 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. |
| abnormality of the epiphysis of the 1st metacarpal | In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. |
| fibrous dysplasia of the bones | Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). |
| paroxysmal choreoathetosis | Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. |
| osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) | |
| lower limb hypertonia | |
| premature birth | The birth of a baby of less than 37 weeks of gestational age. |
| absent microvilli on the surface of peripheral blood lymphocytes | |
| 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. |
| abnormal muscle tone | |
| abnormality of magnesium homeostasis | An abnormality of magnesium ion homeostasis. |
| large sternal ossification centers | |
| aplasia/hypoplasia affecting bones of the axial skeleton | Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. |
| lack of subcutaneous fatty tissue | |
| corneal ulceration | |
| slurred speech | Abnormal coordination of muscles involved in speech. |
| sudden episodic apnea | Recurrent bouts of sudden, severe apnea that may be life-threatening. |
| hypergalactosemia | |
| 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. |
| albuminuria | The presence of albumin in the urine, an indicator of KIDNEY DISEASES. |
| abnormality of the ureter | An abnormality of the ureter. |
| absent neutrophil specific granules | Lack of specific granules in neutrophils. |
| dysuria | Painful or difficult urination. |
| hypochromic microcytic anemia | A microcytic anemia characterized by paler than normal blood cells. |
| small hypothenar eminence | Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. |
| alopecia totalis | Loss of all scalp hair. |
| cleft in skull base | A bony defect in the skull base. |
| hepatic encephalopathy | |
| pelvic girdle muscle atrophy | Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). |
| reduced renal corticomedullary differentiation | Reduced differentiation between renal cortex and medulla on diagnostic imaging. |
| folate-responsive megaloblastic anemia | A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. |
| hepatitis | |
| monodactyly (hands) | |
| adrenal gland agenesis | Absent development of the adrenal gland. |
| absent palmar crease | The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). |
| thyroid adenoma | |
| calcification of falx cerebri | The presence of calcium deposition in the falx cerebri. |
| pes planus | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| bilateral radial aplasia | Missing radius bone on both sides associated with congenital failure of development. |
| partial duplication of the phalanges of the 3rd finger | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| gait apraxia | |
| overbite | Maxillary teeth cover the mandibular teeth when biting to an increased degree. |
| beta-cell dysfunction | |
| spinal rigidity | Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. |
| cervical platyspondyly | A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. |
| muscle weakness | Reduced strength of muscles. |
| patchy palmoplantar keratoderma | A focal type of palmoplantar keratoderma in whichonly certain areas of the palms and soles are affected. |
| normocytic hypoplastic anemia | A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). |
| limb dystonia | A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. |
| abnormality of color vision | An anomaly in the ability to discriminate between or recognize colors. |
| hyperglycemia | |
| abnormality of vitamin e metabolism | |
| strabismus | |
| cerebral hypomyelination | Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. |
| talipes | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| metaphyseal cupping | Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. |
| narrow nasal bridge | Decreased width of the bony bridge of the nose. |
| laryngeal edema | An abnormal accumulation of fluid and swelling in the tissues of the larynx. |
| horner syndrome | |
| venous thrombosis | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. |
| neoplasm of the anterior pituitary | A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. |
| subungual hyperkeratosis | A thickening of the stratum corneum in the region beneath the nails. |
| hyperpigmentation of the fundus | Increased amount of pigmentation of the retina. |
| deviation of toes | |
| abnormality of the foot | An abnormality of the skeleton of foot. |
| scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| nasal mucosa telangiectasia | Telangiectasia of the nasal mucosa. |
| aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| erythema nodosum | An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. |
| spinocerebellar tract degeneration | |
| decreased electroretinogram (erg) amplitude | Descreased amplitude of eletrical response upon electroretinography. |
| agenesis of maxillary incisor | |
| peromelia | The distal parts of the limbs are missing leading to a stump formation. |
| peg-shaped maxillary lateral incisors | Peg-shaped upper lateral secondary incisor tooth. |
| molar tooth sign on mri | An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. |
| partial duplication of the distal phalanx of the 2nd finger | Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. |
| absent pulmonary artery | A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. |
| protein-losing enteropathy | OMIM mapping confirmed by DO. [SN]. |
| nonprogressive restrictive external ophthalmoplegia | Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. |
| death in childhood | Death in during childhood, defined here as between the ages of 2 and 10 years. |
| acute myeloid leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| abnormality of the middle phalanges of the hand | An anomaly of middle phalanx of finger. |
| tip-toe gait | An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. |
| sensory ataxia | Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. |
| specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| menstrual irregularities | |
| posterior y-sutural cataract | A type of sutural cataract in which the opacity follows the posterior Y suture. |
| abnormality of purine metabolism | |
| broad distal hallux | |
| panhypogammaglobulinemia | |
| abnormality of the nares | Abnormality of the nostril. |
| abnormality of the capitate bone | |
| apathy | Lack of emotion or emotional expression; a disorder of motivation that persists over time. |
| anterior open bite | |
| corticospinal tract hypoplasia | |
| abnormal lower motor neuron morphology | Any structural anomaly of the lower motor neuron. |
| pulp stones | Multiple punctate calcifications in the dental pulp. |
| progressive muscle weakness | |
| nasal speech | A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum. |
| decreased circulating renin level | An decreased level of renin (PRO:000013883) in the blood. |
| hyperpituitarism | |
| absent in utero rib ossification | Lack of formation and mineralization of the ribs in utero. |
| weight loss | Reduction inexisting body weight. |
| hypoplastic labia majora | Undergrowth of the outer labia. |
| absent toenail | Congenital absence of the toenail. |
| 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. |
| enlarged epiphyses of the 2nd finger | Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. |
| macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| macrocytic anemia | |
| abnormality of serum amino acid levels | The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. |
| clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| left ventricular septal hypertrophy | |
| increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors | |
| abnormality of the integument | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| abnormality of the retina | An abnormality of the retina. |
| autoamputation | Spontaneous detachment (amputation) of an appendage from the body. |
| verrucae | Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. |
| hypoaldosteronism | Abnormally reduced levels of aldosterone. |
| thyroid-stimulating hormone excess | Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland. |
| abnormality of the sacrum | An abnormality of the sacral bone. |
| reduced natural killer cell activity | Reduced ability of the natural killer cell to function in the adaptive immune response. |
| abnormality of midbrain morphology | An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. |
| square face | Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. |
| abnormality of the cerebral subcortex | An abnormality of the cerebral subcortex. |
| absent distal interphalangeal creases | Absence of the distal interphalangeal flexion creases of the fingers. |
| allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| prominent epicanthal folds | |
| panhypopituitarism | |
| severe combined immunodeficiency | A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. |
| hemoglobin h | Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. |
| chronic metabolic acidosis | Longstanding metabolic acidosis. |
| dental enamel pits | The presence of small depressions in the dental enamel. |
| kinetic tremor | Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. |
| right ventricular hypertrophy | In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. |
| abnormality of neuronal migration | An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. |
| digital flexor tenosynovitis | Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. |
| 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. |
| decreased serum leptin | A decreased concentration of leptin in the blood. |
| abnormality of ocular abduction | An abnormality involving the movement of the eye outwards. |
| hearing abnormality | An abnormality of the sensory perception of sound. |
| ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| developmental regression | Loss of developmental skills, as manifested by loss of developmental milestones. |
| aplasia/hypoplasia of the 1st metacarpal | Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). |
| spinal canal stenosis | |
| abnormality of the vagina | An abnormality of the vagina. |
| abnormality of xanthine metabolism | An abnormality of a xanthine metabolic process. |
| shawl scrotum | Superior margin of the scrotum superior to the base of the penis. |
| thyroid defect in oxidation and organification of iodide | |
| elevated amniotic fluid alpha-fetoprotein | An elevation of alpha-feto protein measured in the amniotic fluid. |
| oral cleft | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| neoplasm of the nervous system | |
| lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| glutaric acidemia | An increased concentration of glutaric acid in the blood. |
| irregular vertebral endplates | An irregular surface of the vertebral end plates, which are normally relatively smooth. |
| hemiparesis | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| choroidal neovascularization of the macula | Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. |
| sparse hair | Reduced density of hairs. |
| short umbilical cord | Decreased length of the umbilical cord. |
| facial asymmetry | An abnormal difference between the left and right sides of the face. |
| reduced prothrombin activity | Decreased activity of coagulation factor II, which is also known as prothrombin. |
| abnormality of the hand | An abnormality affecting one or both hands. |
| carpal bone hypoplasia | Underdevelopment of one or more carpal bones. |
| prominent superficial veins | A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. |
| neoplasm of the heart | A tumor (abnormal growth of tissue) of the heart. |
| acral ulceration leading to autoamputation of digits | |
| exaggerated startle response | An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. |
| xanthelasma | The presence of xanthomata in the skin of the eyelid. |
| cerebral degeneration | |
| nonossified fifth metatarsal | The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. |
| lymphocytosis | Increase in the number or proportion of lymphocytes in the blood. |
| abnormality of the hip bone | An abnormality of the hip bone. |
| radial deviation of the 4th finger | Displacement of the 4th finger towards the radial side (i.e., towards the thumb). |
| increased lacrimation | |
| abnormality of the iris | An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. |
| absence of bactericidal oxidative 'respiratory burst' in phagocytes | |
| congenital myopia | Myopia apparent at birth. |
| decreased fumarate hydratase activity | An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. |
| peripheral hypermyelination | Increased amount of peripheral myelination. |
| abnormality of the 4th metacarpal | Any abnormality of the fourth metacarpal bone. |
| abnormality of renal resorption | An abnormality of renal absorption. |
| hip contracture | Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. |
| compensatory chin elevation | A tendency to hold the child elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. |
| axillary freckling | The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| bifid uvula | Uvula separated into two parts most easily seen at the tip. |
| limb tremor | |
| bullet-shaped phalanges of the hand | The presence of short and wide phalanges which taper distally (bullet shaped). |
| reticulocytopenia | A reduced number of reticulocytes in the peripheral blood. |
| internal hemorrhage | The presence of hemorrhage within the body. |
| abnormal ciliary motility | Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. |
| periventricular cysts | |
| abnormal atrioventricular conduction | |
| arachnoid cyst | An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. |
| triangular shaped distal phalanges of the hand | |
| short upper lip | Decreased width of the upper lip. |
| gastrointestinal atresia | |
| episcleritis | Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. |
| asymptomatic hyperammonemia | An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. |
| morbilliform rash | An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. |
| axonal degeneration/regeneration | A pattern of simultaneous degeneration and regeneration of axons (see comment). |
| progressive alopecia | Progressive loss of hair. |
| muscle mounding | Transient swelling of muscle induced by percussion. |
| single ventricle | |
| exostoses | An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. |
| abnormality of cranial sutures | Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. |
| ulnar deviation of the 2nd finger | Displacement of the 2nd (index) finger towards the ulnar side. |
| cholestasis | |
| mutism | A speech disorder that involves a complete inability to speak. |
| renal malrotation | An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. |
| polydactyly | |
| osteochondrosis dissecans | |
| bladder neoplasm | The presence of a neoplasm of the urinary bladder. |
| pulmonary capillary hemangiomatosis | |
| b-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| abnormality of the ankles | |
| hypomelanotic macules | Hypomelanotic macules (ash leaf spots) are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. |
| autoimmune neutropenia | Autoimmune-induced neutropenia. |
| abnormality of the hair | An abnormality of the hair. |
| ovarian gonadoblastoma | |
| abnormality of phytanic acid metabolism | An abnormality of phytanic acid metabolism. |
| synostosis involving bones of the upper limbs | An abnormal union between bones or parts of bones of the upper limbs. |
| insulinoma | A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. |
| albinism | An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). |
| abnormality of toe | An anomaly of a toe. |
| resting tremor | A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. |
| cystic liver disease | |
| punctate palmoplantar hyperkeratosis | |
| frontoparietal cortical dysplasia | The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. |
| lethal skeletal dysplasia | |
| slender distal phalanx of finger | Reduced diameter of the distal phalanx of finger. |
| vertigo | An abnormal sensation of spinning while the body is actually stationary. |
| abnormality of earlobe | An abnormality of the lobule of pinna. |
| intestinal carcinoid | |
| adrenocorticotropin (acth) receptor (acthr) defect | Adrenal insufficiency secondary to a defect in the ACTH receptor. |
| genu varum | A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. |
| decreased methylcobalamin | Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. |
| myelin outfoldings | The presence of excessive redundant myelin in the peripheral nerve sheath. |
| severe recurrent varicella | |
| localized skin lesion | A lesion of the skin that is located in a specific region rather than being generalized. |
| reduced factor x activity | |
| retinal neoplasm | A tumor (abnormal growth of tissue) of the retina. |
| lack of peer relationships | |
| writer's cramp | A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. |
| tritanomaly | Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. |
| additional crus of antihelix | Supernumerary ridge or crus of the ear arising from the antihelix. |
| paraganglioma | Xref MGI. |
| hypopigmented skin patches on arms | |
| stiff skin | An induration (hardening) of the skin |
| osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| curly hair | |
| atrophic scars | Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. |
| drooling | Habitual flow of saliva out of the mouth. |
| vertebral body sclerosis | Increase in bone density of the vertebral body. |
| severe visual impairment | |
| broad distal phalanx of finger | Abnormally wide (broad) distal phalanx of finger. |
| abnormality of the radioulnar joints | |
| chronic pancreatitis | A chronic form of pancreatitis. |
| abnormal metatarsal ossification | Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. |
| feeding difficulties in infancy | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| clonus | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| inappropriate laughter | |
| skin dimple over apex of long bone angulation | |
| aberrant melanosome maturation | |
| bicuspid pulmonary valve | The presence of a bicuspid pulmonary valve. |
| broad thumb | Increased thumb width without increased dorso-ventral dimension. |
| spinal cord compression | External mechanical compression of the spinal cord. |
| facial hypotonia | Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| cutaneous leiomyoma | The presence of leiomyoma of the skin. |
| loss of truncal subcutaneous adipose tissue | Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. |
| 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. |
| abnormality of the thoracic cavity | |
| abnormality of the uterus | An abnormality of the uterus. |
| abnormality of facial soft tissue | |
| melanin pigment aggregation in hair shafts | |
| absent septum pellucidum | Absence of the septum pellucidum. |
| abnormality of the ischium | An anomaly of the ischium, which forms the lower and back part of the hip bone. |
| abnormality of the distal phalanx of the 4th finger | |
| abnormality of parotid gland | Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. |
| neoplasm of the large intestine | The presence of a neoplasm of the large intestine. |
| irregular, rachitic-like metaphyses | |
| glioblastoma | |
| hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| axonal loss | A reduction in the number of axons in the peripheral nervous system. |
| decreased serum ceruloplasmin | A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood. |
| gastrointestinal telangiectasia | Telangiectasia affecting thegastrointestinal tract. |
| retinal vascular tortuosity | The presence of an increased number of twists and turns of the retinal blood vessels. |
| upper limb postural tremor | A type of tremors that is triggered by holding an arm in a fixed position. |
| opposable triphalangeal thumb | A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. |
| conductive hearing impairment | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| abnormal sweat homeostasis | An abnormality of the composition of sweat or the levels of its components. |
| sensory impairment | An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. |
| delayed gross motor development | A type of motor delay characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| distal ulnar hypoplasia | Underdevelopment of the distal portion of the ulna. |
| primary open angle glaucoma | OMIM mapping confirmed by DO. [SN]. |
| misalignment of teeth | Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. |
| thoracolumbar interpediculate narrowness | A reduction of the distance between thoracolumbar vertebral pedicles. |
| beaking of vertebral bodies | Anterior tongue-like protrusions of the vertebral bodies. |
| adrenocorticotropic hormone deficiency | A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. |
| cutaneous amyloidosis | The presence of amyloid deposition in the superficial dermis. |
| microretrognathia | A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. |
| short distal phalanx of the 3rd finger | Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. |
| achalasia | An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. |
| absent/shortened dynein arms | |
| acidosis | Abnormal acid accumulation or depletion of base. |
| volvulus | |
| dilatated internal auditory canal | The presence of a dilated inner part of external acoustic meatus. |
| neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| rheumatoid factor positive | The presence in the serum of an autoantibody directed against the Fc portion of IgG. |
| sacral dimple | A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft . |
| abnormality of the spinal meninges | Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. |
| spasticity of facial muscles | Spasticity of one or more muscles innervated by the facial nerve. |
| paranoia | A persecutory delusion of supposed hostility of others. |
| abnormality of nervous system physiology | A functional anomaly of the nervous system. |
| broad forearm bones | Abnormally wide bone of the skeleton of forearm. |
| short palpebral fissure | Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. |
| hypoplastic olfactory lobes | |
| retrograde ejaculation | The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. |
| recurrent otitis media | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| abnormality of unsaturated fatty acid metabolism | An abnormality of unsaturated fatty acid metabolism. |
| paroxysmal ventricular tachycardia | |
| ptosis | An eye disease characterized by the drooping or falling of the upper or lower eyelid. |
| abnormality of hindbrain morphology | An abnormality of the hindbrain, also known as the rhombencephalon. |
| type b brachydactyly | |
| abnormal nasal base | An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. |
| aplasia/hypoplasia of the earlobes | Absence or underdevelopment of the ear lobes. |
| absent rod-and cone-mediated responses on erg | Absence of the combined rod-and-code response on electroretinogram. |
| metaphyseal spurs | Bony outgrowths that extend laterally from the margin of the metaphysis. |
| hypoplasia of the calcaneus | Underdevelopment of the heel bone. |
| cortical dysplasia | The presence of developmental dysplasia of the cerebral cortex. |
| curvilinear intracellular accumulation of autofluorescent lipopigment storage material | An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. |
| increased urinary taurine | Increased concentration of taurine in the urine. |
| sinus bradycardia | Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. |
| abnormality of glutamine metabolism | An abnormality of a glutamine metabolic process. |
| schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| duplication of renal pelvis | A duplication of the renal pelvis. |
| abnormality of small intestinal villus morphology | |
| short femur | An abnormal shortening of the femur. |
| hypoplastic left heart | Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. |
| hypohidrosis or hyperhidrosis | |
| metacarpal synostosis | Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). |
| sacral segmentation defect | |
| eeg with focal epileptiform discharges | EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| nonprogressive cerebellar ataxia | |
| abnormality of the calvaria | Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. |
| limited knee flexion/extension | A limited ability of the knee joint extension and flexion. |
| hypohidrosis | |
| corneal erosion | An erosion or abrasion of the cornea's outermost layer of epithelial cells. |
| increased carotid artery intimal medial thickness | An increase in the combined thickness of the intima and media of the carotid artery. |
| death in infancy | Death within the first 24 months of life. |
| hypolipoproteinemia | |
| nervous tissue neoplasm | A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). |
| proportionate shortening of all digits | |
| abnormal pelvis bone ossification | An abnormality of the formation and mineralization of any bone of the bony pelvis. |
| poorly ossified cervical vertebrae | Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. |
| absent forearm bone | Absence of one or more forearm bones associated with congenital failure of development. |
| opisthotonus | Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. |
| aplasia/hypoplasia of the 4th metacarpal | Aplasia or Hypoplasia affecting the 4th metacarpal. |
| chronic diarrhea | The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. |
| abnormal sperm morphology | A structural anomaly of sperm. |
| midline nasal groove | An abnormal groove on the midline of the nose that may extend to the nasal tip. |
| complete duplication of phalanx of hand | A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism. |
| widened posterior fossa | |
| abnormality of muscle morphology | A structural abnormality of a skeletal muscle. |
| duplication of middle phalanx of toe | Partial or complete duplication of a middle phalanx of toe. |
| progressive distal muscular atrophy | Progressive muscular atrophy affecting muscles in the distal portions of the extremities. |
| perifollicular hyperkeratosis | |
| fused cervical vertebrae | A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. |
| distal upper limb amyotrophy | Muscular atrophy of distal arm muscles. |
| memory impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
| interstitial pneumonitis | |
| very long chain fatty acid accumulation | |
| increased neuronal autofluorescent lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| chronic kidney disease | Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. |
| aplasia/hypoplasia of fingers | Small/hypoplastic or absent/aplastic fingers. |
| abnormality of placental membranes | |
| polydipsia | Excessive thirst manifested by excessive fluid intake. |
| aplasia of the epiglottis | Absence of the epiglottis. |
| c2-c3 subluxation | A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. |
| hyperplasia of the femoral trochanters | |
| polyarticular arthropathy | |
| aplasia/hypoplasia of the radius | A small/hypoplastic or absent/aplastic radius. |
| increased cellular sensitivity to uv light | |
| non-midline cleft palate | |
| bilateral single transverse palmar creases | The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. |
| impaired gluconeogenesis | An impairment of gluconeogenesis. |
| bifid distal phalanx of the thumb | Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. |
| generalized seborrheic dermatitis | |
| retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| olfactory lobe agenesis | |
| cryptorchidism | Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. |
| abnormality of urine homeostasis | An abnormality of the composition of urine or the levels of its components. |
| abnormality of leukocytes | An abnormality of leukocytes. |
| hepatic periportal necrosis | A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. |
| torus palatinus | A bony protrusion present on the midline of the hard palate. |
| distal lower limb amyotrophy | Muscular atrophy of distal leg muscles. |
| asymmetry of the thorax | Lack of symmetry between the left and right halves of the thorax. |
| abnormality of female internal genitalia | An abnormality of the female internal genitalia. |
| increased serum free triiodothyronine (ft3) | An elevated concentration of 3,3',5-triiodo-L-thyronine in the blood. |
| sleep disturbance | An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. |
| frontal cutaneous lipoma | Presence of a cutaneous lipoma on the forehead. |
| bowel diverticulosis | The presence of multiple diverticula of the intestine. |
| pyrimidine-responsive megaloblastic anemia | A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. |
| pulmonary valve defects | |
| stiff shoulders | Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. |
| abnormality of circulating cortisol level | An abnormality of the concentration of cortisol in the blood. |
| firm muscles | |
| mesoaxial polydactyly | The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. |
| aminoaciduria | An increased concentration of an amino acid in the urine. |
| aplasia/hypoplasia of the cerebellar vermis | Absence or underdevelopment of the vermis of cerebellum. |
| factor x activation deficiency | Reduced ability to transform factor X into its activated form factor Xa. |
| corneal perforation | A rupture of the cornea through which a portion of the iris protrudes. |
| abnormality of primary teeth | Any abnormality of the primary tooth. |
| abnormality of the striatum | Abnormality of the striatum (FMA:77618). |
| coombs-positive hemolytic anemia | A type of hemolytic anemia in which the Coombs test is positive. |
| bowing of the arm | A bending or abnormal curvature affecting a long bone of the arm. |
| ectopic ossification in muscle tissue | Formation of abnormal bony tissue within muscle tissue. |
| abnormality of the right ventricle | An abnormality of the right ventricle of the heart. |
| cupped ear | Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). |
| chorioretinopathy | |
| facial telangiectasia in butterfly midface distribution | Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. |
| abdominal wall defect | An incomplete closure of the abdominal wall. |
| absent hand | The total absence of the hand, with no bony elements distal to the radius or ulna. |
| 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. |
| displacement of the external urethral meatus | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| fatty replacement of skeletal muscle | Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers |
| marcus gunn pupil | Video description of how to test patients at: http://www.youtube.com/watch?v=HSYo7LhfV3A . |
| enteroviral hepatitis | |
| congenital sensorineural hearing impairment | A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. |
| renal artery stenosis | The presence of stenosis of the renal artery. |
| medium chain dicarboxylic aciduria | |
| visual field defect | |
| recurrent meningitis | An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. |
| decreased serum complement factor b | |
| impaired horizontal smooth pursuit | An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. |
| decreased serum complement factor h | |
| decreased serum complement factor i | |
| glabellar hemangioma | |
| vaginal atresia | Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. |
| shoulder girdle muscle weakness | The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. |
| flared humeral metaphysis | Flaring (increase of width with a splayed appearance) of the humeral metaphysis. |
| brainstem dysplasia | A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. |
| abnormality of lower-limb metaphyses | |
| coarse hair | Hair shafts are rough in texture. |
| abnormal ossification of the pubic bone | Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. |
| impaired tactile sensation | A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. |
| cuboidal metacarpal | Severely shortened metacarpal with a cuboidal appearance. |
| 4-hydroxyphenylpyruvic aciduria | Increased concentration of pyruvic acid in the urine. |
| adrenal overactivity | Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. |
| multiple digital exostoses | Multiple exostoses originating in the fingers and toes. |
| stenosis of the medullary cavity of the long bones | |
| cervical vertebrae fusion (c5/c6) | Fusion of the C5 and C6 cervical vertebrae. |
| urethrovaginal fistula | The presence of a fistula between the vagina and the urethra. |
| decreased urine output | A decreased rate of urine production. |
| defective dna repair after ultraviolet radiation damage | |
| reduced factor xii activity | |
| highly arched eyebrow | Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. |
| prolonged pr interval | Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). |
| cleft at the superior portion of the pinna | This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. |
| urogenital sinus anomaly | A rare birth defect in women where the urethra and vagina both open into a common channel. |
| germinoma | A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. |
| prelingual sensorineural hearing impairment | A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. |
| cartilaginous ossification of nose | |
| facial palsy secondary to cranial hyperostosis | Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. |
| incomplete partition of the cochlea | Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. |
| abnormality of hair texture | An abnormality of the texture of the hair. |
| muscle hypertrophy of the lower extremities | Muscle hypertrophy primarily affecting the legs. |
| microdontia of primary teeth | Decreased size of the primary teeth. |
| costal cartilage calcification | Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. |
| emg: myopathic abnormalities | The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. |
| duplication of phalanx of 3rd finger | This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| deep white matter hypodensities | Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. |
| bifid nose | Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. |
| pulmonary artery vasoconstriction | |
| generalized myoclonic seizures | Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). |
| spondylometaphyseal dysplasia | |
| bowing of limbs due to multiple fractures | Curvature of the shafts of the long bones due to multiple fractures. |
| delayed phalangeal epiphyseal ossification | Delay in the process of formation and maturation of the epiphysis of one or more phalanx. |
| x-linked dominant inheritance | A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. |
| ulnar deviation of the wrist | |
| mitochondrial respiratory chain defects | |
| corneal guttata | Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. |
| supraauricular pit | Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. |
| abnormal isoelectric focusing of serum transferrin | Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. |
| elevated 8(9)-cholestenol | |
| calcification of cartilage | |
| increased serum serotonin | A increased concentration of serotonin in the blood. |
| immune dysregulation | |
| abnormal hemoglobin | Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. |
| low plasma citrulline | A decreased concentration of citrulline in the blood. |
| hypoplasia of proximal fibula | |
| episodic vomiting | Paroxysmal, recurrent episodes of vomiting. |
| abnormality of the fontanelles or cranial sutures | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ). |
| furrowed tongue | OMIM mapping confirmed by DO. [SN]. |
| short phalanx of the thumb | Hypoplastic (short) thumb phalanx. |
| psychosis | A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor. |
| heterogeneous | |
| curved linear dimple below the lower lip | |
| median cleft palate | Cleft palate of the midline of the palate. |
| hyperreflexia | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| short attention span | Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. |
| distal lower limb muscle weakness | Reduced strength of the distal musculature of the legs. |
| lymphoid leukemia | |
| normochromic microcytic anemia | A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. |
| myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| hypoplasia of deltoid muscle | Underdevelopment of the deltoid muscle. |
| infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| bulging epiphyses | A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). |
| aplasia/hypoplasia of the thymus | Absence or underdevelopment of the thymus. |
| long clavicles | Increased length of the clavicles. |
| focal motor seizures | Focal seizures involving musculature in any form. |
| exertional dyspnea | |
| positional foot deformity | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| abnormality of the eyelid | An abnormality of the eyelids. |
| hypoketotic hypoglycemia | A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. |
| difficulty in tongue movements | |
| pear-shaped nose | |
| fluctuating hepatomegaly | Intermittently increased size of the liver. |
| superiorly displaced ears | |
| type ii lissencephaly | A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. |
| decreased distal sensory nerve action potential | A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. |
| insidious onset | Gradual, very slow onset of disease manifestations. |
| abnormal morphology of bones of the upper limbs | |
| amenorrhea | |
| aplasia/hypoplasia of the 2nd metacarpal | Aplasia or Hypoplasia affecting the 2nd metacarpal. |
| irregular femoral epiphysis | |
| amelia | Congenital absence (aplasia) of one or more limbs. |
| malformed lacrimal ducts | |
| thoracolumbar scoliosis | |
| absent inner and outer dynein arms | Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| weakness of long finger extensor muscles | |
| abnormal nasal morphology | This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. |
| lipomas of the central neryous system | |
| dilatation of the ascending aorta | |
| glucose intolerance | |
| prominent umbilicus | Abnormally prominent umbilicus (belly button). |
| defective lymphocyte apoptosis | A defect in apoptosis in lymphocytes. |
| dilated fourth ventricle | An abnormal dilatation of the fourth cerebral ventricle. |
| 2-4 toe cutaneous syndactyly | A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. |
| flat nasal alae | An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). |
| clubbing of toes | Terminal broadening of the toes (distal phalanges of the toes). |
| abnormality of urine calcium concentration | An abnormality of calcium concentration in the urine (FMA:12274). |
| nausea | A sensation of unease in the stomach together with an urge to vomit. |
| upper limb amyotrophy | Muscular atrophy involving the muscles of the upper limbs. |
| epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| early balding | Loss of scalp hair at an earlier than normal age. |
| facial capillary hemangioma | |
| elevated alpha-fetoprotein | An increased concentration of alpha-fetoprotein. |
| inability to walk | Incapability to ambulate. |
| butterfly vertebrae | In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra. |
| inspiratory stridor | Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. |
| mildly reduced visual acuity | |
| parathormone-independent increased renal tubular calcium reabsorption | An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. |
| pectus excavatum of inferior sternum | Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. |
| deformed tarsal bones | |
| time of death | The age group when the cessation of life happens. |
| abnormality of coordination | |
| periauricular skin pits | Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. |
| zonular cataract | Zonular cataracts are defined to be cataracts that affect specific regions of the lens. |
| intention tremor | A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). |
| decreased corneal thickness | A decreased anteroposterior thickness of the cornea. |
| medial arterial calcification | Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. |
| impaired ig class switch recombination | An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. |
| spinal stenosis with reduced interpedicular distance | An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). |
| tremor by anatomical site | Tremor classified by the affected body part. |
| preeclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| postlingual sensorineural hearing impairment | A form of sensorineural hearing impairment with onset after the acquisition of speech. |
| connective tissue nevi | Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. |
| telangiectasia | |
| short 5th metacarpal | Short fifth metacarpal bone. |
| fasciitis | |
| neoplasm by anatomical site | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| aplasia/hypoplasia involving the skeleton | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| absent achilles reflex | Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. |
| talipes equinovarus | |
| renal hypoplasia | Hypoplasia of the kidney. |
| right ventricular failure | Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading top pitting peripheral edema, ascites, and hepatomegaly. |
| concave nasal ridge | Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. |
| ulnar deviation of the hand | Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). |
| coarctation of the descending aortic arch | Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. |
| irregular ossification of hand bones | |
| pointed proximal second through fifth metacarpals | All of the metacarpal bones of the hand have a pointed proximal appearance. |
| abnormality of the lens | |
| external ophthalmoplegia | Paralysis of the external ocular muscles. |
| hypoplasia of the ulna | Underdevelopment of the ulna. |
| abnormal ossification involving the femoral head and neck | |
| hypoplasia of the uterus | Underdevelopment of the uterus. |
| abnormal concentration of calcium in blood | |
| abnormality of the hip-girdle musculature | |
| duplication of the proximal phalanx of the thumb | Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| 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 |
| difficulty climbing stairs | Reduced ability to climb stairs. |
| galactosuria | Elevated concentration of galactose in the urine. |
| infantile hypercalcemia | |
| decreased body weight | |
| thimble-shaped middle phalanges of hand | The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. |
| arnold-chiari type i malformation | Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. |
| low posterior hairline | Hair on the neck extends more inferiorly than usual. |
| aplasia/hypoplasia of the humerus | Absence (due to failure to form) or underdevelopment of the humerus. |
| rectal fistula | The presence of a fistula affecting the rectum. |
| bilateral conductive hearing impairment | A bilateral type of conductive hearing impairment. |
| small vessel vasculitis | A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. |
| aplasia/hypoplasia of the distal phalanx of the 4th finger | |
| abnormality of the musculature of the lower limbs | |
| dermal translucency | An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. |
| abnormality of the temporal bone | Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. |
| germ cell neoplasia | |
| abnormality of the hamate bone | |
| gray matter heterotopias | Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. |
| abnormal emotion/affect behavior | An abnormality of emotional behaviour. |
| hypercalciuria | |
| congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| abnormality of epidermal morphology | An abnormality of the morphology of the epidermis. |
| reduced quantity of von willebrand factor | Decreased quantity of von Willebrand factor. |
| fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| distal femoral metaphyseal abnormality | An anomaly of the metaphysis of the distal femur (close to the knee). |
| impaired ocular adduction | Reduced ability to move the eye in the direction of the nose. |
| preaxial foot polydactyly | Duplication of all or part of the first ray. |
| arthralgia | Joint pain. |
| branchial cyst | A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. |
| esophageal neoplasm | A tumor (abnormal growth of tissue) of the esophagus. |
| abnormal epiphyseal ossification | An abnormality of the formation and mineralization of an epiphysis. |
| persistence of primary teeth | Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. |
| aplasia/hypoplasia of the palmar creases | Absence or underdevelopment of the palmar creases. |
| diaphoresis (with pheochromocytoma) | |
| anophthalmia | Absence of the globe or eyeball. |
| mental deterioration | Loss of previously present mental abilities, generally in adults. |
| patellar subluxation | The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. |
| limited mobility of proximal interphalangeal joint | |
| hypocalciuria | An abnormally decreased calcium concentration in the urine (FMA:12274). |
| septic arthritis | An arthritis that involves infection by a pathogen located_in joint. |
| triangular epiphyses | |
| aplasia/hypoplasia of the maxilla | Absence or underdevelopment of the Maxilla. |
| neoplasm of the breast | A tumor (abnormal growth of tissue) of the breast. |
| vascular calcification | Abnormal calcification of the vasculature. |
| limited hip extension | Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. |
| aplasia of the testes | Absence of the testes. |
| vestibular dysfunction | An abnormality of the functioning of the vestibular apparatus. |
| hypoalbuminemia | Reduction in the concentration of albumin in the blood. |
| self-injurious behavior | Aggression towards oneself. |
| scapular winging | Abnormal protrusion of the scapula away from the surface of the back. |
| abnormal urine cytology | An anomalous finding in the examination of the urine for cells. |
| scalp hair loss | |
| pallor of dorsal columns of the spinal cord | |
| type 1 collagen overmodification | |
| hyperechogenic pancreas | |
| large beaked nose | |
| abnormal palmar dermatoglyphics | An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. |
| abnormality of the atrioventricular valves | An abnormality of an atrioventricular valve. |
| redundant skin | Loose and sagging skin often associated with loss of skin elasticity. |
| gastroschisis | OMIM mapping confirmed by DO. [SN]. |
| fingerprint intracellular accumulation of autofluorescent lipopigment storage material | An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. |
| abnormality of histidine metabolism | An abnormality of a histidine metabolic process. |
| absent proximal phalanx of thumb | Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| disinhibition | A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. |
| progressive truncal ataxia | |
| right ventricular cardiomyopathy | Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. |
| hypoplastic cervical vertebrae | |
| prominent antitragus | Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. |
| impaired renal concentrating ability | A defect in the ability to concentrate the urine. |
| bone-marrow foam cells | The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. |
| subacute progressive viral hepatitis | |
| aplasia/hypoplasia of the ribs | |
| tibial pseudoarthrosis | Pseudarthrosis, or false joint of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. |
| abnormality of metacarpal epiphyses | |
| centrocecal scotoma | A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. |
| abnormally straight spine | The absence of the normal curvature of the vertebral column. |
| 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. |
| abnormality of dental eruption | An abnormality of tooth eruption. |
| leukocoria | |
| short middle phalanx of the 5th finger | Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger. |
| feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| radial head subluxation | Partial dislocation of the head of the radius. |
| hyporeflexia | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| symmetrical, oval parietal bone defects | |
| chronic gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| abnormality of pelvic girdle bone morphology | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| generalized dystonia | A dystonia that affects most or all of the body. |
| abnormality of the metacarpal bones | An abnormality of the metacarpal bones. |
| abnormality of the renal pelvis | An abnormality of the renal pelvis. |
| abnormality of the talus | An abnormality of the talus. |
| anterior basal encephalocele | |
| abnormality of blood and blood-forming tissues | An abnormality of the hematopoietic system. |
| pre-b-cell acute lymphoblastic leukemia | |
| shuffling gait | |
| goiter | Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). |
| plantar pits | The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. |
| truncal ataxia | Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. |
| waldenstrom macroglobulinemia | A malignant monoclonal gammopathy characterized by a high level of an IgM monoclonal protein. |
| cochlear degeneration | Degeneration of the cochlea. |
| hypocholesterolemia | An decreased concentration of cholesterol in the blood. |
| abnormality of bone mineral density | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| aplasia/hypoplasia of the 1st metatarsal | Absence or underdevelopment of the first metatarsal bone. |
| bowing of the long bones | A bending or abnormal curvature of a long bone. |
| retinal flecks | Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. |
| aspiration | Inspiration of a foreign object into the airway. |
| metaphyseal rarefaction | Reduction in density of metaphyseal bony tissue. |
| tall lumbar vertebral bodies | |
| morphological abnormality of the semicircular canal | An abnormality of the morphology of the semicircular canal. |
| elbow ankylosis | |
| short proximal phalanx of finger | Congenital hypoplasia of one or more proximal phalanx of finger. |
| occipital myelomeningocele | |
| pulmonary arteriovenous malformation | |
| lumbar kyphosis in infancy | |
| abnormality of exocrine pancreas physiology | A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. |
| intellectual disability, severe | Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. |
| swan neck-like deformities of the fingers | A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. |
| chordee | Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. |
| abdominal situs inversus | A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. |
| abnormality of mitochondrial metabolism | A functional anomaly of mitochondria. |
| recurrent candida infections | An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. |
| mild hearing impairment | The presence of a mild form of hearing impairment. |
| aqueductal stenosis | Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. |
| muscle fiber inclusion bodies | |
| hypertrophic labia minora | |
| abnormality of corneal epithelium | Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. |
| bridged sella turcica | |
| shortening of the talar neck | |
| abnormality of central motor function | An anomaly of the control or production of movement in the central nervous system. |
| abnormality of the forehead | An anomalyof the forehead. |
| abnormality of the metatarsal bones | Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). |
| palmoplantar hyperkeratosis | |
| abnormality of iron homeostasis | An abnormality of the homeostasis (concentration) of iron cation. |
| decreased sensory nerve conduction velocity | Reduced speed of conduction of the action potential along a sensory nerve. |
| abnormality of the heme biosynthetic pathway | An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. |
| distal tapering of metatarsals | |
| flat occiput | Reduced convexity of the occiput (posterior part of skull). |
| abnormality of refraction | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| enlarged joints | Increase in size of one or more joints. |
| atypical scarring of skin | Atypically scarred skin . |
| keratan sulfate excretion in urine | An increased concentration of keratan sulfate in the urine. |
| cholecystitis | A cholangitis that is an inflammation of the gallbladder. |
| lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| hypometric horizontal saccades | Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. |
| spastic gait | |
| abnormal neuron morphology | A structural anomaly of a neuron. |
| toe extensor amyotrophy | Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. |
| tendon xanthomatosis | The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). |
| six lumbar vertebrae | |
| mitochondrial inheritance | A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). |
| schwannoma | |
| hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| rapid neurologic deterioration | |
| abnormality of urine glucose concentration | An abnormality of the concentration of glucose in the urine. |
| hypermobility of interphalangeal joints | The ability of the interphalangeal joints to move beyond their normal range of motion. |
| drusen | Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. |
| ankle contracture | A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. |
| abdominal pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. |
| 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. |
| ankle clonus | Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. |
| episodic hypertension | |
| patent urachus | Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. |
| bowing of the vocal cords | Bowing (abnormal curvature) of the vocal folds. |
| overfolded helix | A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. |
| aplasia/hypoplasia involving the vertebral column | |
| absent proximal finger flexion creases | Absence of the proximal interphalangeal flexion creases of the fingers. |
| arterial stenosis | Narrowing or constriction of the inner surface (lumen) of an artery. |
| pulmonary fibrosis | |
| functional abnormality of male internal genitalia | |
| abnormality of the gastric mucosa | An abnormality of the gastric mucous membrane. |
| pheochromocytoma | Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. |
| increased t3/t4 ratio | A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. |
| aplasia/hypoplasia of the 2nd finger | A small/hypoplastic or absent/aplastic 2nd finger. |
| preauricular pit | Small indentation anterior to the insertion of the ear. |
| intermittent diarrhea | |
| bracket epiphyses of the 5th finger | Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. |
| abnormality of glycosphingolipid metabolism | An abnormality of glycosphingolipid metabolism. |
| laryngeal hypoplasia | Underdevelopment of the larynx (FMA:55097). |
| supernumerary vertebrae | |
| abnormality of phosphate homeostasis | An abnormality of phosphate homeostasis or concentration in the body. |
| talon cusp | Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). |
| thyroid follicular hyperplasia | |
| fibrous tissue neoplasm | |
| large posterior fontanelle | An enlargement of the posterior fontanelle relative to age-dependent norms. |
| abnormality of the internal auditory canal | An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. |
| lipoma of corpus callosum | |
| midfrontal capillary hemangioma | |
| enterocolitis | An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). |
| macular edema | |
| papilledema | |
| distal ileal atresia | |
| lacrimal gland hypoplasia | Underdevelopment of the lacrimal gland. |
| abnormality of cells of the monocyte/macrophage lineage | |
| enlarged labia minora | Increase in size of the folds of skin between the outer labia. |
| absent first metatarsal | A developmental defect characterized by the absence of the first metatarsal bone. |
| 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). |
| neoplasm of the outer ear | A tumor (abnormal growth of tissue) of the outer ear. |
| megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| limb undergrowth | Limb shortening because of underdevelopment of one or more bones of the extremities. |
| hypoplastic superior helix | |
| entrapment neuropathy | |
| high axial triradius | |
| polyostotic fibrous dysplasia | An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. |
| mood swings | An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. |
| chronic colitis | A chronic inflammatory disease of the large intestine (colon, cecum and rectum). |
| mild neurosensory hearing impairment | The presence of a mild form of sensorineural hearing impairment. |
| phocomelia | Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). |
| vocal cord paresis | Decreased strength of the vocal folds. |
| cerebellar atrophy | Atrophy (wasting) of the cerebellum. |
| repetitive compulsive behavior | |
| posterior choanal atresia | OMIM mapping confirmed by DO. [SN]. |
| absent axillary hair | Absence of axillary hair. |
| finger syndactyly | Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as Symphalangism. |
| cystic medial necrosis | A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. |
| retinal arteriolar constriction | Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. |
| biliary tract neoplasm | A hepatobiliary benign neoplasm located_in the biliary tract. |
| decreased fetal movement | An abnormal reduction in quantity or strength of fetal movements. |
| abnormality of skeletal maturation | The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. |
| intellectual disability, progressive | The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. |
| leber optic atrophy | Degeneration of retinal ganglion cells and their axons. |
| duplication of hand bones | |
| penoscrotal hypospadias | A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. |
| sarcoma | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. |
| desquamation of skin soon after birth | |
| skin nodule | Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. |
| nocturnal hypoventilation | |
| kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| abnormality of adipose tissue | An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes. |
| neutrophil inclusion bodies | The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. |
| brisk reflexes | |
| prolonged bleeding following procedure | Prolonged or protracted bleeding following an invasive procedure or intervention. |
| lumbar kyphosis | Over curvature of the lumbar region. |
| iritis | |
| epiretinal membrane | An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. |
| cystic renal dysplasia | |
| paroxysmal atrial tachycardia | |
| autoamputation of digits | |
| pseudoepiphyses of the 3rd finger | A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. |
| abnormality of the left ventricular outflow tract | An abnormality of the outflow tract of the left ventricle. |
| adrenocortical abnormality | |
| jerky ocular pursuit movements | |
| decreased testicular size | Reduced volume of the testicle (the male gonad). |
| transient aminoaciduria | |
| abnormality of oral frenula | An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. |
| basal lamina 'onion bulb' formation | A type of onion bulb formation prominently affecting the area of the basal lamina. |
| neurodegeneration | a retrogressive impairment of function or destruction of neural tissue |
| abnormal csf lactate level | Abnormal concentration of lactate in the cerebrospinal fluid. |
| duplication of phalanx of hand | This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| congenital blindness | Blindness with onset at birth. |
| lipid accumulation in hepatocytes | |
| abnormal facial shape | An abnormal morphology (form) of the face or its components. |
| dolichocephaly | An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. |
| anterior beaking of lower thoracic vertebrae | Anterior tongue-like protrusions of the lower thoracic vertebral bodies. |
| athetosis | Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements. |
| symphalangism affecting the phalanges of the hand | Fusion of two or more phalangeal bones of the hand. |
| long chain 3 hydroxyacyl coa dehydrogenase deficiency | |
| infantile muscular hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. |
| metacarpophalangeal synostosis | Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. |
| prominent interphalangeal joints | |
| genu valgum | The legs angle inward, such that the knees are close together and the ankles far apart. |
| abnormal joint morphology | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| reduced factor vii activity | |
| delayed ossification of pubic rami | Delayed maturation and calcification of the rami (branches) of the pubic bone. |
| dilated vestibule of the inner ear | Dilatation of the vestibule of the inner ear. |
| chronic hepatitis | |
| abnormality of the scalp hair | An abnormality of the hair of head. |
| pigmentation of the sclera | |
| abnormality of citrulline metabolism | Abnormality of a metabolism or concentration of citrulline. |
| infra-orbital crease | Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. |
| prolonged partial thromboplastin time | Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. |
| abnormal vertebral segmentation and fusion | |
| follicular hyperkeratosis | A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. |
| abnormality of the clitoris | An abnormality of the clitoris. |
| palpebral fissure narrowing on adduction | |
| abnormality of the nasal mucosa | |
| frontal bone hypoplasia | Underdevelopment of the frontal bone. |
| lisch nodules | The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. |
| congenital pseudoarthrosis of the clavicle | The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. |
| oral mucosal blisters | Blisters arising in the mouth. |
| rectilinear intracellular accumulation of autofluorescent lipopigment storage material | An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. |
| respiratory insufficiency due to muscle weakness | |
| abnormality of the middle ear | An abnormality of the middle ear. |
| decreased serum ferritin | Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. |
| severe hydrocephalus | |
| arterial intimal fibrosis | Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. |
| sudden central visual loss | |
| uplifted earlobe | An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. |
| generalized arterial calcification | Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. |
| thin bony cortex | Abnormal thinning of the cortical region of bones. |
| zollinger-ellison syndrome | A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. |
| spastic paraparesis | |
| abnormality of body weight | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| premature rupture of membranes | Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. |
| aplasia/hypoplasia involving the metacarpal bones | Aplasia or Hypoplasia affecting the metacarpal bones. |
| stroke-like episodes | |
| peripheral retinal avascularization | |
| degenerative vitreoretinopathy | |
| patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| delusions | A belief that is pathological and is held despite evidence to the contrary. |
| aplasia/hypoplasia of the nipples | |
| irregular capital femoral epiphysis | Irregular surface of the normally relatively smooth capital femoral epiphysis. |
| stomatitis | |
| vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| distal tapering femur | |
| hoarse cry | |
| meningoencephalocele | |
| hypothalamic gonadotropin-releasing hormone (gnrh) deficiency | |
| cutaneous syndactyly of toes | A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. |
| abnormality of the synovia | |
| polysyndactyly of hallux | Combined syndactyly and polydactyly of the great toe. |
| increased iga level | An abnormally increased level of immunoglobulin A in blood. |
| thick hair | Increased density of hairs, i.e., and elevated number of hairs per unit area. |
| abnormal internal genitalia | An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). |
| enchondroma | A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. |
| infantile sensorineural hearing impairment | A form of sensorineural hearing impairment with infantile onset. |
| congenital hypothyroidism | A hypothyroidism that is present at birth. |
| hoarse voice | Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. |
| xanthine nephrolithiasis | The presence of xanthine-containing calculi (stones) in the kidneys. |
| excessive salivation | Excessive production of saliva. |
| recurrent urinary tract infections | |
| ivory epiphyses of the distal phalanges of the hand | Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. |
| brain stem compression | |
| abnormality of the sternum | An anomaly of the sternum, also known as the breastbone. |
| upper limb phocomelia | Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). |
| cavum septum pellucidum | Space enclosed within the laminae of the septum pelludicum, the membranous partition that seperates the frontal horns of the ventricle. |
| bilateral camptodactyly | |
| cogwheel rigidity | |
| subsarcolemmal accumulations of abnormally shaped mitochondria | An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. |
| reduced vital capacity | An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. |
| gastrointestinal dysmotility | Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. |
| carpal osteolysis | Osteolysis affecting carpal bones. |
| bilateral ptosis | |
| epiphyseal deformities of tubular 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. |
| relative macrocephaly | A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. |
| severe failure to thrive | |
| pseudoepiphyses of hand bones | |
| peripheral axonal atrophy | Atrophic changes of axons of the peripheral nervous system. |
| spinal deformities | |
| retinal pigment epithelial atrophy | |
| crusting erythematous dermatitis | |
| abnormality of the intrinsic pathway | An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. |
| 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. |
| abnormality of the endometrium | An anomaly of the inner mucous membrane of the uterus. |
| interrupted aortic arch | Non-continuity of the arch of aorta with an atretic point or absent segment. |
| hypokalemic hypochloremic metabolic alkalosis | |
| hypotelorism | Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). |
| synophrys | Meeting of the medial eyebrows in the midline. |
| gallbladder dysfunction | |
| abnormal oral glucose tolerance | A type of Abnormal glucose tolerance observed following administration of an oral bolus of glucose. |
| compensated hypothyroidism | |
| mandibular osteomyelitis | |
| 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 |
| 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. |
| dysfunctional alternative complement pathway | |
| increased corneal thickness | A increased anteroposterior thickness of the cornea. |
| polycystic ovaries | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. |
| duplication of phalanx of 2nd finger | This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| limb fasciculations | Fasciculations affecting the musculature of the arms and legs. |
| acanthosis nigricans | OMIM mapping confirmed by DO. [SN]. |
| cleft of chin | Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. |
| dilatation of the descending thoracic aorta | |
| cleft hard palate | |
| impaired ocular abduction | An impaired ability of the eye to move in the outward direction (towards the side of the head). |
| decreased cervical spine mobility | |
| sleepy facial expression | |
| hydrops fetalis | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| progressive central visual loss | |
| abnormality of the lacrimal punctum | An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. |
| iliac crest serration | Irregularities of the iliac crest that produce the appearance of a lace border around it. |
| generalized edema | Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| abnormality of the periungual region | An abnormality of the region around the nails of the fingers or toes. |
| lateral displacement of the femoral head | A developmental anomaly with lateral displacement of the femoral head. |
| juvenile posterior subcapsular lenticular opacities | |
| sex-limited autosomal dominant | |
| aplasia/hypoplasia of the 5th metacarpal | Aplasia or Hypoplasia affecting the 5th metacarpal. |
| congenital fibrosis of extraocular muscles | Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. |
| fused teeth | The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. |
| fingernail dysplasia | An abnormality of the development of the fingernails. |
| calcaneovalgus deformity | This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). |
| congenital kyphoscoliosis | |
| excessive wrinkled skin | |
| increased fibular diameter | Increased width of the cross sectional diameter of the fibula. |
| hypokinesia | Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. |
| abnormal delivery | An abnormality of the birth process. |
| splenic rupture | A breach of the capsule of the spleen. |
| abnormality of the pharynx | An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. |
| ketonuria | High levels of ketone bodies in the urine. |
| positive ferric chloride test | If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. |
| cartilage destruction | |
| abnormality of the pulmonary valve | An abnormality of the pulmonary valve. |
| abnormality of the phalanges of the toes | |
| lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| midline skin dimples over anterior/posterior fontanelles | |
| gait disturbance | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| abnormality of the calf | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| hypermetropia | |
| hyperglutaminemia | An increased concentration of glutamine in the blood. |
| anarthria | A defect in the motor ability that enables speech. |
| type i diabetes mellitus | A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. |
| abnormality of the mastoid | An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. |
| elliptocytosis | hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape |
| absent brainstem auditory responses | Lack of measurable response to stimulation of auditory evoked potentials. |
| aplasia/hypoplasia of the capital femoral epiphysis | Absence or underdevelopment of the proximal epiphysis of the femur. |
| reduced factor viii activity | |
| intestinal atresia | |
| proximal femoral epiphysiolysis | Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. |
| micrognathia | Developmental hypoplasia of the mandible. |
| leukopenia | decrease in no. of leukocytes |
| elevated c-reactive protein level | An abnormal elevation of the C-reactive protein level in serum. |
| 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. |
| abnormality of finger | An anomaly of a finger. |
| depigmented fundus | |
| abnormality of the tricuspid valve | An abnormality of the tricuspid valve. |
| chronic mucocutaneous candidiasis | A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. |
| narrow greater sacrosciatic notches | A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. |
| fusion of middle ear ossicles | Bony fusion of malleus, incus, and stapes. |
| increased nuchal translucency | The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). |
| decreased finger mobility | |
| lop ear | Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. |
| keratitis | |
| decreased activity of mitochondrial respiratory chain | Decreased activity of the mitochondrial respiratory chain. |
| ascites | Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. |
| elfin facies | This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. |
| neck flexor weakness | Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). |
| abnormality of the brainstem white matter | An anomaly of the white matter of brainstem. |
| aplasia/hypoplasia of the proximal phalanx of the thumb | This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| enlarged cerebellum | An abnormally increased size of the cerebellum compared to other brain structures. |
| advanced tarsal ossification | Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| portal fibrosis | Fibroblast proliferation and fiber expansion from the portal areas to the lobule. |
| block vertebrae | Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). |
| chronic tubulointerstitial nephritis | Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. |
| contractures of the joints of the lower limbs | |
| abnormal middle ear reflexes | |
| decreased activity of mitochondrial complex iii | A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. |
| partial duplication of thumb phalanx | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| orthostatic tachycardia | An increase in heart rate with standing of 30 beats per minute or more. |
| short chin | Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. |
| 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. |
| scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| thin metacarpal cortices | |
| skeletal myopathy | |
| inflammation of the large intestine | |
| cerebral cortical neurodegeneration | |
| high nonceruloplasmin-bound serum copper | An increased concentration of non ceruloplasmin bound copper in the blood. |
| triangular shaped middle phalanx of the 2nd finger | Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| late-onset spinocerebellar degeneration | |
| type 1 fibers relatively smaller than type 2 fibers | The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. |
| abnormality of transition element cation homeostasis | An abnormality of the homeostasis (concentration) of transition element cation. |
| large fleshy ears | |
| aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| autoimmune hemolytic anemia | An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. |
| failure to thrive secondary to recurrent infections | |
| bruising susceptibility | An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. |
| ocular albinism | |
| abnormally low-pitched voice | An abnormally low-pitched voice. |
| flared femoral metaphysis | |
| bracket epiphyses of the middle phalanges of the hand | |
| atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| steatorrhea | |
| adrenocortical adenoma | An adrenal adenoma that is a benign tumor of the adrenal cortex. |
| fundus atrophy | |
| amyloid deposition in the vitreous humor | |
| jerky head movements | |
| joint swelling onset late infancy | |
| t-cell lymphoma | A type of lymphoma that originates in T-cells. |
| abnormality of the heart valves | An abnormality of a Cardiac valve. |
| weak voice | Reduced intensity (volume) of speech. |
| cholestatic liver disease | |
| paroxysmal supraventricular tachycardia | An episodic form of supraventricular tachycardia with abrupt onset and termination. |
| encephalitis | Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. |
| muscle fiber necrosis | Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. |
| aplasia/hypoplasia of the proximal phalanx of the hallux | |
| presacral teratoma | Presence of a teratoma anterior to the sacrum. |
| recurrent cutaneous abscess formation | An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. |
| epiphyseal dysplasia | |
| scapular muscle atrophy | Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. |
| cardiac shunt | Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. |
| neurofibromas | The presence of multiple cutaneous neurofibromas. |
| cleft lower alveolar ridge | |
| odontoma | The presence of an odontoma. |
| urocanic aciduria | An increased concentration of urocanic acid in the urine. |
| lumbar scoliosis | |
| eeg with generalized slow activity | Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| arthralgia of the hip | Joint pain affecting the hip. |
| hypoplastic pulmonary veins | |
| aplasia/hypoplasia of the phalanges of the 3rd finger | |
| abnormal mitochondrial morphology | Any structural anomaly of the mitochondria. |
| poor appetite | |
| axillary pterygia | |
| spontaneous abortion | A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. |
| neonatal wrinkled skin of hands and feet | |
| shortening of all middle phalanges of the fingers | Short (hypoplastic middle phalanx of finger, affecting all fingers. |
| slow decrease in visual acuity | |
| cone-shaped epiphysis of the 1st metacarpal | A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. |
| abnormality of serine metabolism | An abnormality of a serine metabolism. |
| emg abnormality | Abnormal results of investigations using electromyography (EMG). |
| prominent fingertip pads | A soft tissue prominence of the ventral aspects of the fingertips. The term persistent fetal fingertip pads is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. |
| recurrent upper and lower respiratory tract infections | |
| abnormal cervical curvature | The presence of an abnormal curvature of the cervical vertebral column. |
| glycopeptiduria | Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. |
| abnormality of the pleura | An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. |
| abnormality of urinary uric acid concentration | Abnormal concentration of urate in the urine. |
| increased intracellular sodium | An abnormally increased sodium concentration in the cytosol. |
| aplasia/hypoplasia of the ear | The presence of aplasia or developmental hypoplasia of the ear. |
| hyperorality | A tendency or compulsion to examine objects by mouth. |
| abnormality of the tracheobronchial system | |
| bilateral coxa valga | The presence of bilateral coxa_valga. |
| non-acidotic proximal tubulopathy | A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. |
| nonmotile sperm | A lack of mobility of ejaculated sperm. |
| absence of lymph node germinal center | Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. |
| dyskinesia | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| missing ribs | A developmental anomaly with absence of one or more ribs. |
| straight clavicles | An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . |
| osteomyelitis leading to amputation due to slow healing fractures | |
| prolonged qrs complex | Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. |
| ovarian fibroma | The presence of a fibroma of the ovary. |
| cheilitis | A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. |
| impaired thrombin-induced platelet aggregation | Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). |
| functional respiratory abnormality | This category describes not-primarily structural lesions. |
| proximal/middle symphalangism of 5th finger | Fusion of the proximal and middle phalanges of the 5th finger. |
| protruding coccyx | |
| anxiety | Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. |
| cranial nerve motor loss | |
| asymmetric growth | A growth pattern that displays an abnormal difference between the left and the right side. |
| absence of labia majora | |
| abnormality of the skeletal system | An abnormality of the skeletal system. |
| aplasia/hypoplasia of the diaphragm | Absence or underdevelopment of the diaphragm. |
| posterior pituitary dysgenesis | Abnormal development of the neurohypophysis during embryonic growth and development. |
| abnormality of the 5th finger | An abnormality affecting one or both 5th fingers. |
| smooth philtrum | Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. |
| liposarcoma | A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. |
| global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| abnormality of the hypothenar eminence | An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). |
| adermatoglyphia | |
| aplastic/hypoplastic lacrimal glands | Absence or underdevelopment of the lacrimal gland. |
| stapes ankylosis | Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). |
| weakness of the intrinsic hand muscles | |
| retinal nonattachment | Failure of attachment of the retina during development. |
| premature closure of fontanelles | Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. |
| hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| increased circulating renin level | An increased level of renin (PRO:000013883) in the blood. |
| absent knee epiphyses | |
| thin anteverted nares | This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. |
| ureteral atresia | The presence of atretic ureter. |
| osteosclerosis of ribs | Osteosclerosis of ribs (increased density related to increased bone mass). |
| multiple glomerular cysts | The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. |
| anisopoikilocytosis | A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. |
| abnormality of the spinal cord | |
| diffuse cerebral sclerosis | |
| lethal short-limbed short stature | |
| loss of speech | |
| primary hyperparathyroidism | Xref MGI. |
| flat glenoid fossa | Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. |
| vasculitis in the skin | |
| abnormality of dentin | Any abnormality of dentin. |
| hypoplastic nasal tip | |
| ligamentous laxity | |
| acne | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| hemiatrophy | Undergrowth of the limbs that affects only one side. |
| increased circulating cortisol level | Abnormally increased concentration of cortisol in the blood. |
| flattened femoral head | An abnormally flattened femoral head. |
| anodontia | |
| aplasia/hypoplasia involving bones of the upper limbs | Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. |
| intrahepatic cholestasis | Xref MGI. |
| cafe-au-lait spot | Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| dumbbell-shaped metaphyses | |
| long upper lip | Increased width of the upper lip. |
| retinitis pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| congenital hypertrophy of left ventricle | |
| abnormal bleeding | |
| hyperchloridura | An increased concentration of chloride in the urine. |
| mild intrauterine growth retardation | Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. |
| micropenis | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| stippled calcification proximal humeral epiphyses | |
| prune belly | A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. |
| beaking of vertebral bodies t12-l3 | |
| poorly ossified vertebrae | Decreased ossification of the vertebral bodies. |
| hammertoe | Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. |
| decreased number of cd4+ t cells | A decreased count of circulating CD4-positive helper T cells. |
| juvenile cortical cataract | |
| uterine leiomyoma | A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.|A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. |
| short thorax | Reduced inferior to superior extent of the thorax. |
| encephalopathy | |
| pili canaliculi | Uncombable hair. |
| increased serum iron | |
| 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. |
| cleft helix | A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. |
| hyperextensible hand joints | The ability of the joints of the hand to move beyond their normal range of motion. |
| facial flushing after alcohol intake | |
| deviation of the 2nd toe | |
| breathing dysregulation | |
| amegakaryocytic thrombocytopenia | Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. |
| abnormality of the common coagulation pathway | An abnormality of blood coagulation, common pathway. |
| neck pterygia | Pterygia affecting the neck. |
| erythrocyte macrocytosis | Larger than normal size of erythrocytes. |
| hypodontia | A tooth disease characterized by failure to develop on or more missing teeth. |
| calcium oxalate nephrolithiasis | The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. |
| intermittent generalized erythematous papular rash | |
| abnormality of lower eyelashes | |
| asymmetry of the ears | An asymmetriy, i.e., difference in size, shape or position between the left and right ear. |
| abnormal myelination | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| lens subluxation | |
| aplasia of the thymus | Absence of the thymus. |
| dysmetric saccades | The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. |
| maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| sparse or absent eyelashes | |
| odontogenic neoplasm | Neoplasm involving odontogenic cells, an odontogenic tumor. |
| brachydactyly syndrome | |
| hepatic calcification | The presence of abnormal calcium deposition in the liver. |
| plantar hyperkeratosis | Hyperkeratosis affecting the sole of the foot. |
| delayed eruption of permanent teeth | Delayed tooth eruption affecting the secondary dentition. |
| recurrent burkholderia cepacia infections | Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. |
| short mandibular rami | |
| hypoalphalipoproteinemia | An decreased concentration of high-density lipoprotein cholesterol in the blood. |
| biventricular hypertrophy | |
| cutaneous melanoma | A skin cancer that has_material_basis_in melanocytes. |
| blue cone monochromacy | An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. |
| disturbance of facial expression | An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. |
| small intestinal stenosis | The narrowing or partial blockage of a portion of the small intestine. |
| fingerpad telangiectases | Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. |
| renal juxtaglomerular cell hypertrophy/hyperplasia | Increased number and size of the juxtaglomerular cells. |
| cranial nerve paralysis | |
| abnormality of molar | An abnormality of molar tooth. |
| nodular goiter | |
| irregular myelin loops | |
| type i lissencephaly | A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. |
| conical incisor | An abnormal conical morphology of the incisor tooth. |
| abolished electroretinogram (erg) | Lack of any response to stimulation upon electroretinography. |
| abnormality of the midnasal cavity | Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. |
| triangular epiphyses of the middle phalanges of the hand | |
| glossitis | |
| aplasia/hypoplasia of the premaxilla | Absence or underdevelopment of the premaxilla. |
| decreased movement range in interphalangeal joints | |
| leukocytosis | An abnormal increase in the number of leukocytes in the blood. |
| abnormality of facial adipose tissue | |
| ankyloblepharon | Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. |
| peripheral neuropathy | A neuropathy that is located_in nerves of the peripheral nervous system. |
| premaxillary prominence | Prominent aspect of the premaxilla. |
| oculomotor apraxia | Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. |
| hurthle cell thyroid adenoma | A kind of thyroid adenoma characterized by the presence of oxyphil cells. |
| tubular basement membrane disintegration | DIsruption and breaking up of the basement membrane of the tubules of the kidney. |
| decreased retinal pigmentation with dispersion | |
| abnormality of lysine metabolism | An abnormality of a lysine metabolic process. |
| atrophy/degeneration affecting the cerebrum | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| sinusitis | A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. |
| hypogonadotrophic hypogonadism | Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). |
| spinal hemangioblastoma | A 'hemangioblastoma of the spinal cord. |
| decreased activity of mitochondrial atp synthase complex | A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. |
| abnormal mitochondrial shape | An anomaly in the surface contour of mitochondria. |
| abnormality of thalamus morphology | An abnormality of the thalamus. |
| 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. |
| aplasia/hypoplasia of the cerebrum | |
| late onset | A type of adult onset with onset of symptoms after the age of 60 years. |
| rhabdomyoma | A benign tumor of striated muscle. |
| tetraamelia | Amelia of all four limbs. |
| hypermelanotic macule | A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. |
| onychomycosis | A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. |
| subcutaneous calcification | Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). |
| abnormality of the elbow | An anomaly of the joint that connects the upper and the lower arm. |
| redundant skin on fingers | Loose and sagging skin of the fingers. |
| abnormal auditory evoked potentials | An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. |
| nodular corneal dystrophy | |
| absent cellular immunity | |
| osteolytic defects of the phalanges of the hand | Dissolution or degeneration of bone tissue of the phalanges of the hand. |
| weakness due to upper motor neuron dysfunction | 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. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| spider hemangioma | A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. |
| duplication of the distal phalanx of the thumb | Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. |
| elevated systolic blood pressure | Abnormal increase in systolic blood pressure. |
| aplasia/hypoplasia of the 3rd toe | |
| pulmonic valve myxoma | |
| impaired social interactions | Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. |
| deep-set nails | Deeply placed nails. |
| syncope | Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. |
| aplasia/hypoplasia of the middle phalanges of the hand | |
| vertebral clefting | Schisis (cleft or cleavage) of vertebral bodies. |
| retinal malformation | |
| abnormality of the palm | An abnormality of the palm, that is, of the front of the hand. |
| epileptic encephalopathy | |
| central apnea | Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. |
| absent patellar reflexes | Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. |
| hepatic fibrosis | The presence of fibrosis of the liver tissue. |
| impaired lymphocyte transformation with phytohemagglutinin | Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. |
| thoracic hemivertebrae | Absence of one half of the vertebral body in the thoracic spine. |
| split foot | A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. |
| left ventricular hypertrophy | |
| small thenar eminence | Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. |
| retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| cutaneous finger syndactyly | A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. |
| duodenal atresia | A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. |
| sensorimotor neuropathy | |
| abnormality of glycoside metabolism | Abnormality of glycoside metabolism. |
| streaky metaphyseal sclerosis | The presence of streaks (bands) of abnormally increased density of metaphyseal bone. |
| functional abnormality of the bladder | Dysfunction of the urinary bladder. |
| congenital goiter | An enlargement of the thyroid gland with congenital onset. |
| constrictive median neuropathy | Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. |
| hyperoxaluria | Increased excretion of oxalates in the urine. |
| cupped ribs | Wide, concave rib end. |
| nonprogressive congenital retinal dystrophy | A form or retinal dystrophy that is present at birth and does not further progress. |
| pain | An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. |
| abnormality of the curvature of the vertebral column | The presence of an abnormal curvature of the vertebral column. |
| joint contracture of the hand | Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| abnormality of coagulation | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| abnormality of the female genitalia | Abnormality of the female genital system. |
| abnormal activity of mitochondrial respiratory chain | An increased or decreased activity of the mitochondrial respiratory chain. |
| recurrent spontaneous abortion | Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. |
| screwdriver-shaped incisors | An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. |
| hepatic steatosis | The presence of steatosis in the liver. |
| prominent digit pad | A soft tissue prominence of the ventral aspects of the fingertips or toe tips. |
| proximal femoral metaphyseal abnormality | An anomaly of the metaphysis of the proximal femur (close to the hip). |
| abnormality of cardiovascular system physiology | Abnormal functionality of the cardiovascular system. |
| delayed peripheral myelination | Delayed myelination in the peripheral nervous system. |
| supraventricular tachycardia | Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. |
| somatic mutation | |
| absence of secondary sex characteristics | No secondary sexual characteristics are present at puberty. |
| atransferrinemia | OMIM mapping confirmed by DO. [SN]. |
| fasciculations | Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. |
| upper limb spasticity | |
| crowded carpal bones | |
| cryoglobulinemia | A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004 |
| synostosis of joints | The abnormal fusion of neighboring bones across a joint. |
| abnormality of temperature regulation | An abnormality of temperature homeostasis. |
| congenital adrenal hyperplasia | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. |
| facial telangiectasia | Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. |
| aplasia/hypoplasia of the phalanges of the 2nd finger | |
| metabolic alkalosis | |
| phonic tics | Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. |
| flaring of rib cage | The presence of wide, concave anterior rib ends. |
| abnormality of the rib cage | A morphological anomaly of the rib cage. |
| malformation of the hepatic ductal plate | |
| absent nares | The nostrils (the paired channels of the nose) are not present. |
| abnormal location of ears | Abnormal location of the ear. |
| bull's eye maculopathy | Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. |
| esophageal atresia | |
| abnormality of muscle size | Abnormalities of the overall muscle bulk based on clinical observation. |
| vaginal neoplasm | A tumor (abnormal growth of tissue) of the vagina. |
| hypoplastic distal humeri | Underdevelopment of the distal portion of the humerus. |
| abnormality of the abdominal wall | The presence of any abnormality affecting the abdominal wall. |
| first dorsal interossei muscle atrophy | |
| functional abnormality of the inner ear | An abnormality of the function of the inner ear. |
| hyperacusis | Over-sensitivity to certain frequency ranges of sound. |
| blindness | |
| elevated right atrial pressure | |
| personality disorder | A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. |
| tombstone-shaped proximal phalanges | |
| growth hormone deficiency | Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. |
| elevated leukocyte alkaline phosphatase | An increased alkaline phosphatase activity measured within leukocytes. |
| hyperpigmented/hypopigmented macules | |
| renal steatosis | Abnormal fat accumulation in the kidneys. |
| increased pulmonary vascular resistance | |
| lester's sign | A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. |
| congenital macroorchidism | |
| venous malformation | A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. |
| synostosis involving bones of the feet | |
| right ventricular dilatation | Enlargement of the chamber of the right ventricle. |
| prominent crus of helix | The presence of an abnormally prominent of the crus of the helix (FMA:61024). That is, development of the crus helix to the same degree as an average antihelix stem or helix. |
| synostosis involving bones of the lower limbs | An abnormal union between bones or parts of bones lower limbs. |
| carpal bone aplasia | Congenital absence of a carpal bone. |
| woolly hair | |
| prolonged miniature endplate currents | An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. |
| delayed pubic bone ossification | Delayed maturation and calcification of the pubic bone. |
| poor suck | An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. |
| complete duplication of the distal phalanges of the hand | A complete duplication affecting one or more of the distal phalanges of the hand. |
| radial deviation of the hand or of fingers of the hand | |
| congenital stationary night blindness | A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. |
| nonprogressive muscular atrophy | Muscular atrophy that does not display a progression in severity with time. |
| elongated superior cerebellar peduncle | Increased length of the superior cerebellar peduncle. |
| abnormality of the line of schwalbe | An abnormality of the line of Schwalbe. |
| triangular epiphyses of the 2nd finger | A triangular appearance of the epiphyses of the 2nd finger of the hand. |
| abnormal cns myelination | An abnormality of myelination of nerves in the central nervous system. |
| facial cleft | A congenital malformation with a cleft (gap or opening) in the face. |
| externally rotated hips | |
| hypocalcemia | An abnormally decreased calcium concentration in the blood. |
| kayser-fleischer ring | Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. |
| falciform retinal fold | An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. |
| eunuchoid habitus | A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). |
| choroid coloboma | A congenital defect in which a portion of choroid is not developed and the corresponding region of the retina is atrophic. |
| myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| elevated urinary vanillylmandelic acid | An increased concentration of vanillylmandelic acid in the urine. |
| hyperextensible skin | A condition in which the skin can be stretched beyond normal, and then returns to its initial position. |
| aplasia/hypoplasia of the bladder | Absence or underdevelopment of the urinary bladder. |
| dysplastic patella | |
| trichiasis | Inversion and rubbing of the eyelashes against the globe of the eye. |
| proximal symphalangism | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. |
| carotid artery tortuosity | Abnormal tortuous (i.e., twisted) form of the carotid arteries. |
| abnormality of nail color | An anomaly of the color of the nail. |
| bundle branch block | Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. |
| transient ischemic attack | |
| nonprogressive visual loss | |
| abnormality of vitamin d metabolism | |
| abnormal eye physiology | A functional anomaly of the eye. |
| abnormal renal physiology | An abnormal functionality of the kidney. |
| dandy-walker malformation | A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. |
| aplasia/hypoplasia affecting the uvea | Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. |
| 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. |
| perianal abscess | The presence of an abscess located around the anus. |
| agenesis of central incisor | Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. |
| broad distal phalanx of the toes | Increased width of the distal phalanx of toe of one or more toes. |
| low maternal serum estriol | An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. |
| redundant neck skin | Excess skin around the neck, often lying in horizontal folds. |
| abnormality of divalent inorganic cation homeostasis | An abnormality of divalent inorganic cation homeostasis. |
| progressive language deterioration | Progressive loss of previously present language abilities. |
| abnormality of the humeral epiphysis | An anomaly of the humeral epiphysis. |
| hypobetalipoproteinemia | |
| slowed horizontal saccades | An abnormally slow velocity of horizontal saccadic eye movements. |
| abnormality of the vasculature | An abnormality of the vasculature. |
| 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. |
| lumbar hemivertebrae | Absence of one half of the vertebral body in the lumbar spine. |
| salt and pepper retinopathy | Mottling (Spots or blotches with different shades) of the retinal pigment epithelium. |
| multiple suture craniosynostosis | Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. |
| pulmonary artery sling | An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. |
| dermatan sulfate excretion in urine | An increased concentration of dermatan sulfate in the urine. |
| abnormality of the cerebral ventricles | Abnormality of the cerebral ventricles. |
| periarticular subcutaneous nodules | Subcutaneous nodules that are located in the vicinity of joints. |
| limitation of knee mobility | An abnormal limitation of knee joint mobility. |
| abnormal eating behavior | Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. |
| chilblain lesions | Chilblains are acral ulcers. |
| aplasia/hypoplasia of the sweat glands | Absence or developmental hypoplasia of the sweat glands. |
| coronal cleft vertebrae | Frontal schisis (cleft or cleavage) of vertebral bodies. |
| vitelliform maculopathy | |
| abnormality of the preputium | |
| unilateral breast hypoplasia | Underdevelopment of the breast on one side only. |
| clavicular sclerosis | An increase in bone density within the clavicle. |
| inguinal hernia | An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. |
| mottled pigmentation | Patchy and irregular skin pigmentation. |
| pulsatile tinnitus | Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. |
| irregular epiphyses | An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. |
| facial myokymia | Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| 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. |
| webbed neck | Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. |
| abnormality of brain morphology | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| macroorchidism, postpubertal | |
| abnormality of the penis | |
| long-segment aganglionic megacolon | A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. |
| abnormality of the astrocytes | An abnormality of astrocytes. |
| right bundle branch block | |
| frontal open bite | |
| ectodermal dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| easy fatigability | Increased susceptibility to fatigue. |
| epileptiform eeg discharges | Electroencephalographic patterns that resemble epileptogenic abnormalities. |
| mesomelia | Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. |
| abnormal atrioventricular connection | An abnormality of the circulatory connection between atria and ventricles. |
| posteriorly rotated ears | A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). |
| absent toe | Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. |
| pseudoepiphyses of the metacarpals | A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. |
| abnormality of the maxilla | An abnormality of the Maxilla (upper jaw bone). |
| thigh hypertrophy | Muscle hypertrophy affecting the thighs. |
| x-linked recessive inheritance | A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. |
| abnormality of dental enamel | An abnormality of the dental enamel. |
| retinopathy | Any disease or disorder of the retina. |
| abnormalities of the peripheral arteries | |
| sandwich appearance of vertebral bodies | |
| cerebral hamartomata | The presence of a hamartoma of the cerebrum. |
| intermittent claudication | |
| subependymal nodules | Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter. |
| tachycardia | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| scanning speech | |
| amniotic constriction ring | Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. |
| cone-shaped epiphyses of the phalanges of the hand | A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. |
| genital neoplasm | A tumor (abnormal growth of tissue) of the genital system. |
| abnormality of the peritoneum | An abnormality of the peritoneum. |
| thoracic hypoplasia | |
| talipes equinovalgus | A deformity of foot and ankle in which the foot is bent down and outwards. |
| fluctuations in consciousness | |
| osteolysis involving bones of the feet | |
| urethral stricture | |
| abnormal ventriculo-arterial connection | |
| hyperornithinemia | Increased concentration of ornithine in the blood. |
| abnormality of the fovea | An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. |
| degenerative joint disease | 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. |
| proximal upper limb amyotrophy | Muscular atrophy affecting proximally located muscles of the arms. |
| widely-spaced maxillary central incisors | Increased distance between the maxillary central permanent incisor tooth. |
| abnormality of the epiphyses of the proximal phalanges of the hand | |
| low urinary cyclic amp response to pth administration | |
| median cleft lip and palate | Cleft lip or palate affecting the midline region of the palate. |
| increased density of long bone diaphyses | |
| abnormality of thyroid physiology | An abnormal functionality of the thyroid gland. |
| neoplasm of the pancreas | |
| abnormality of hair pigmentation | An abnormality of hair pigmentation (color). |
| tongue nodules | |
| increased serum beta-hexosaminidase | This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. |
| increased skull ossification | An increase in the magnitude or amount of ossification of the skull. |
| cystocele | When the tough fibrous wall between a woman's bladder and her vagina (the pubocervical fascia) is torn, allowing the bladder to herniate into the vagina. |
| restrictive external ophthalmoplegia | Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. |
| elevated hepatic transaminases | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| aplasia/hypoplasia of the femur | Absence or underdevelopment of the femur. |
| abnormality of the cheeks | |
| limitation of neck motion | |
| spasticity | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| euthyroid hyperthyroxinemia | An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. |
| mastoiditis | A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. |
| hyperalaninemia | An increased concentration of alanine in the blood. |
| tongue telangiectasia | Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. |
| childhood-onset truncal obesity | Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. |
| abnormal anterior horn cell morphology | Any anomaly of the anterior horn cell. |
| shallow acetabular fossae | |
| triangular epiphysis of the proximal phalanx of the 2nd finger | |
| neck muscle weakness | Decreased strength of the neck musculature. |
| scotoma | |
| monocytopenia | An decreased number of circulating monocytes. |
| bone cyst | A fluid filled cavity that develops with a bone. |
| abnormality of the mitochondrion | An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. |
| short lingual frenulum | The presence of an abnormally short lingual frenulum. |
| retrocollis | A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. |
| preauricular skin tag | A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear). |
| abnormality of the renal artery | An abnormality of the renal artery. |
| reduced phenylalanine hydroxylase activity | A reduction in phenylalanine 4-monooxygenase activity. |
| endocardial fibroelastosis | An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. |
| abnormality of the spinocerebellar tracts | An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract (FMA:72642), the anterior spinocerebellar tract (FMA:72642), and the posterior spinocerebellar tract (FMA:72641). |
| flared, irregular rib ends | |
| impaired left ventricular function | |
| delayed closure of the anterior fontanelle | A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. |
| renal corticomedullary cysts | The presence of multiple cysts at the border between the renal cortex and medulla. |
| unilateral cleft palate | |
| asymmetric septal hypertrophy | Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. |
| pulsatile tinnitus (tympanic paraganglioma) | Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear. |
| axial dystonia | A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. |
| gliosis | The presence of gliosis in the central nervous system. |
| broad first metatarsal | Increased side-to-side width of the first metatarsal bone. |
| double tooth | A dental anomaly characterized by the presence of a two fused teeth. |
| abnormality of the wing of the ilium | An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. |
| agenesis of corpus callosum | Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. |
| hyperbetalipoproteinemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| severe b lymphocytopenia | A severe form of B lymphocytopenia in which the count of B cells is very low or absent. |
| juvenile epithelial corneal dystrophy | |
| hemoptysis | Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. |
| tracheal stenosis | |
| cervical myelopathy | |
| radial bowing | A bending or abnormal curvature of the radius. |
| intellectual disability, profound | Profound mental retardation is defined as an intelligence quotient (IQ) below 20. |
| abnormality of the vitreous humor | An anomaly of the vitreous body. |
| duplication of internal organs | |
| rachitic rosary | A row of beadlike prominences at the junction of a rib and its cartilage, resembling a rosary. |
| generalized tonic-clonic seizures | Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena. |
| type d brachydactyly | This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. |
| pectoralis major hypoplasia | Underdevelopment of the pectoralis major. |
| neuronal loss in the cerebral cortex | |
| adult onset | Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. |
| lipodystrophy | |
| cough | A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. |
| hypochloremic metabolic alkalosis | |
| congenital nephrotic syndrome | |
| facial paralysis | |
| atrophy/degeneration affecting the brainstem | |
| orbital cyst | |
| disproportionate short stature | A kind of short stature in which different regions of the body are shortened to differing extents. |
| vesicovaginal fistula | The presence of a fistula connecting the urinary bladder to the vagina. |
| abnormality of the periventricular white matter | |
| white eyebrow | White color (lack of pigmentation) of the eyebrow. |
| eeg with centrotemporal focal spike waves | EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. |
| flexion contracture of digit | A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| fetal akinesia sequence | Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). |
| neoplasm of the nose | Cancer of the nasal cavity. |
| recurrent sinopulmonary infections | An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. |
| palmoplantar hyperhidrosis | An abnormally increased perspiration on palms and soles. |
| dextrocardia | |
| premature fusion of phalangeal epiphyses | Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. |
| radioulnar dislocation | |
| impacted tooth | A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). |
| porencephaly | NT MGI. |
| elevated urinary delta-aminolevulinic acid | An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. |
| dry hair | Hair that lacks the lustre (shine or gleam) of normal hair. |
| aplasia of the musculature | Absence of the musculature. |
| pyropoikilocytosis | A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. |
| bicuspid aortic valve | The presence of an aortic valve with two instead of the normal three cusps (flaps). |
| distal amyotrophy | Muscular atrophy affecting muscles in the distal portions of the extremities. |
| hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| squamous cell carcinoma of the skin | Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. |
| deviation of the 5th finger | Displacement of the 5th finger from its normal position. |
| abnormality of adrenal physiology | A functional abnormality of the adrenal glands. |
| congenital hypertrophy of retinal pigment epithelium | Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium. |
| adrenal medullary hypoplasia | Developmental hypoplasia of the adrenal medulla. |
| frontal release signs | Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. |
| pulmonary insufficiency | |
| abnormality of the epiphyses of the 5th finger | Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. |
| abnormality of taste sensation | |
| bilateral cryptorchidism | Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. |
| recurrent klebsiella infections | Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. |
| abnormality of galactoside metabolism | Abnormality of galactoside metabolism. |
| aplasia/hypoplasia affecting the anterior segment of the eye | Absence or underdevelopment of the anterior segment of the eye. |
| prominent nose | Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. |
| primitive neuroectodermal tumor | A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. |
| slender long bone | Reduced diameter of a long bone. |
| generalized seizures | Seizures of with initial involvement of both cerebral hemispheres. |
| atrophy/degeneration involving the caudate nucleus | |
| abnormal germ cell morphology | Any structural anomaly of a reproductive cell. |
| 1-5 toe syndactyly | Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). |
| 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. |
| hypersplenism | |
| failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| fetal ascites | Accumulation of fluid in the peritoneal cavity during the fetal period. |
| abnormality of granulocytes | An abnormality of granulocytes. |
| abnormality of skin morphology | Any morphological abnormality of the skin. |
| sprengel anomaly | A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). |
| cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| hypertrophic cardiomyopathy | A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| low back pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. |
| t-wave alternans | A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. |
| underfolded superior helices | A condition in which the superior portion of the helix is folded over to a lesser degree than normal. |
| 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). |
| abnormality of the tongue | Any abnormality of the tongue. |
| atypical or prolonged hepatitis | |
| prominent protruding coccyx | |
| short 3rd metacarpal | Short third metacarpal bone. |
| parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| abnormality of the nasal skeleton | An abnormality of the nasal skeleton. |
| progressive hyperpigmentation | |
| impaired myocardial contractility | |
| cheekbone underdevelopment | Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin. |
| prolonged whole-blood clotting time | An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. |
| parkinsonism with favorable response to dopaminergic medication | |
| arrhinencephaly | |
| broad distal phalanx of the hallux | An increase in width of the distal phalanx of the big toe. |
| carpal synostosis | Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). |
| atrioventricular canal defect with right ventricle aorta and pulmonary atresia | An atrioventricular canal defect whereby the aorta arises from right ventricle instead of from the left ventricle combined with atresia of the pulmonic valve. |
| growth delay | A deficiency or slowing down of growth pre- and postnatally. |
| abnormality of liposaccharide metabolism | An abnormality of liposaccharide metabolism. |
| gaze-evoked nystagmus | Nystagmus made apparent by looking to the right or to the left. |
| renotubular dysgenesis | A developmental defect characterized by absence or poor development of proximal renal tubules. |
| exercise-induced myoglobinuria | Presence of myoglobin in the urine following exercise. |
| pyramidal skinfold extending from the base to the top of the nails | Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. |
| agenesis of lateral incisor | |
| clinodactyly of the 5th finger | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| hemophagocytosis | Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. |
| female external genitalia in individual with 46,xy karyotype | The presence of female external genitalia in a person with a male karyotype. |
| abnormal upper to lower segment ratio | A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. |
| fulminant hepatitis | Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. |
| patent foramen ovale | |
| abnormality of the epididymis | An abnormality of the epididymis. |
| eclampsia | A pre-eclampsia characterized by the presence of seizures. |
| abnormal form of the vertebral bodies | Abnormal morphology of vertebral body. |
| optic atrophy from cranial nerve compression | |
| lethargy | A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. |
| abnormality of the orbital region | |
| profound hearing impairment | A profound (essentially complete) form of hearing impairment. |
| congenital malformation of the right heart | |
| fibroma | |
| ependymoma | The presence of an ependymoma of the central nervous system. |
| cleft mandible | Midline deficiency of the mandible and some or all overlying tissues. |
| ventricular hypertrophy | Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. |
| type e brachydactyly | In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. |
| abnormality of the curvature of the cornea | |
| deformed forearm bones | |
| elevated long chain fatty acids | Increased concentration of long-chain fatty acid. |
| limb duplication | |
| bicarbonaturia | Abnormally increased concentration of hydrogencarbonate in the urine. |
| somnolence | |
| increased red cell sickling tendency | |
| unconjugated hyperbilirubinemia | An increased amount of unconjugated (indirect) bilurubin in the blood. |
| abnormality of the thoracic spine | An abnormality of the thoracic vertebral column. |
| abnormality of the epiphysis of the femoral head | Any abnormality of the proximal epiphysis of the femur. |
| intercostal muscle weakness | Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. |
| heterochromia iridis | Heterochromia iridis is a difference in the color of the iris in the two eyes. |
| celiac artery aneurysm | Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. |
| blepharospasm | A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. |
| synovitis | A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. |
| macroglossia | Increased length and width of the tongue. |
| thin metatarsal cortices | |
| intrauterine growth retardation | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| hypoplasia of teeth | Developmental hypoplasia of teeth. |
| abnormality of the 2nd toe | An anomaly of the second toe. |
| synostosis involving bones of the hand | An abnormal union between bones or parts of bones of the hand. |
| elbow flexion contracture | A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. |
| dyspnea | Difficult or labored breathing. |
| abnormality of pyrimidine metabolism | An abnormality of a pyrimidine base metabolic process. |
| abnormality of t cell physiology | A deviation from the normal count of T cells. |
| sick sinus syndrome | Xref MGI. |
| mesoaxial hand polydactyly | The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. |
| hypoammonemia | A decreased concentration of ammonia in the blood. |
| ornithinuria | An increased concentration of ornithine in the urine. |
| agranulocytosis | |
| dysgenesis of the cerebellar vermis | Defective development of the vermis of cerebellum. |
| deviation of the thumb | Displacement of the thumb from its normal position. |
| multiple lipomas | The presence of multiple lipomas (a type of benign tissue made of fatty tissue). |
| hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| hypertrichosis | |
| irregular ossification of the humeral epiphyses | |
| thickened nuchal skin fold | A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). |
| hyperphosphaturia | An increased excretion of phosphates in the urine. |
| splenomegaly | Abnormal increased size of the spleen. |
| hypouricemia | An abnormally low level of uric acid in the blood. |
| broad ulna | Increased width of the ulna. |
| blue irides | A markedly blue coloration of the iris. |
| symphalangism affecting the proximal phalanges of the hand | |
| microtia, first degree | Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. |
| type i transferrin isoform profile | Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. |
| pretibial blistering | A type of blistering that affects the skin of the tibial region. |
| functional abnormality of the middle ear | An abnormality of the function of the middle ear. |
| anorectal anomaly | An abnormality of the anus or rectum. |
| sparse lower eyelashes | |
| abnormal biliary tract physiology | A functional abnormality of the biliary tree. |
| 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. |
| abnormality of the antitragus | An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. |
| retroperitoneal fibrosis | |
| premature skin wrinkling | The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. |
| lower thoracic interpediculate narrowness | A reduction of the distance between the lower thoracic vertebral pedicles. |
| progressive hypotrichosis | Progressively reduced or lacking hair growth. |
| macular dystrophy | Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. |
| arteriovenous fistulas of celiac and mesenteric vessels | |
| hypoplastic nasal septum | Underdevelopment of the nasal septum. |
| enlarged vertebral pedicles | Increased size of the vertebral pedicle. |
| abnormality of the umbilical cord | An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. |
| hypoplastic iris stroma | Underdevelopment of the stroma of iris. |
| recurrent systemic pyogenic infections | |
| high maternal serum alpha-fetoprotein | An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. |
| recurrent myoglobinuria | Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. |
| increased intracranial pressure | |
| abnormal urine output | Ab abnormal amount of urine production. |
| mottled pigmentation of the trunk and proximal extremities | |
| lower limb muscle weakness | Weakness of the muscles of the legs. |
| dehydration | |
| abnormal blistering of the skin | The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. |
| wide distal femoral metaphysis | Increased width of the distal part of the shaft (metaphysis) of the femur. |
| small placenta | Reduced size of the placenta. |
| soft tissue swelling of interphalangeal joints | |
| triangular epiphysis of the proximal phalanx of the 3rd finger | A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. |
| bracket epiphysis of the middle phalanx of the 5th finger | The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side. |
| acroosteolysis (feet) | |
| cutaneous anergy | Inability to react to a delayed hypersensitivity skin test. |
| specific anti-polysaccharide antibody deficiency | The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. |
| central opacification of the cornea | Reduced transparency of the central portion of the corneal stroma. |
| cerebral hemorrhage | Hemorrhage into the parenchyma of the brain. |
| protruding tongue | Tongue extending beyond the alveolar ridges or teeth at rest. |
| hemorrhage of the eye | Bleeding from vessels of the various tissues of the eye. |
| angiofibromas | Angiofibroma consist of many often dilated vessels. |
| microphthalmos | |
| vitreoretinal degeneration | Gradual deterioration of the vitreous humor and retina. |
| expressive language delay | A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. |
| craniofacial disproportion | |
| abnormal diaphysis morphology | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| transposition of the great arteries | A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. |
| spondyloepiphyseal dysplasia | A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
| head tremor | An unintentional, oscillating to-and-fro muscle movement affecting head movement. |
| hypertyrosinemia | |
| posterior plagiocephaly | Asymmetry of the posterior part of the skull. |
| amblyopia | |
| stippled chondral calcification | |
| thin nail | Nail that appears thin when viewed on end. |
| peripheral hypomyelination | Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. |
| diaphragmatic paralysis | The presence of a paralyzed diaphragm. |
| aplasia/hypoplasia of the nasal bone | Absence or underdevelopment of the nasal bone. |
| progressive sensorineural hearing impairment | A progressive form of sensorineural hearing impairment. |
| dyschromatopsia | A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. |
| abnormality of the substantia nigra | |
| combined immunodeficiency | A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. |
| progressive pulmonary function impairment | |
| torticollis | |
| abnormality of the epiphysis of the proximal phalanx of the 3rd finger | |
| hypoplastic pubic bone | Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. |
| calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| abnormal cholesterol homeostasis | |
| apneic episodes precipitated by illness, fatigue, stress | Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. |
| abnormality of the proximal phalanx of the hallux | In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| hypoplastic labia minora | |
| anomalous trichromacy | Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. |
| dysplastic iliac wings | |
| joint laxity | Lack of stability of a joint. |
| lacrimation abnormality | Abnormality of tear production. |
| vocal cord paralysis | A loss of the ability to move the vocal folds. |
| eeg with focal spike waves | EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. |
| defective b cell activation | |
| episodic upper airway obstruction | Intermittent episodes of increased resistance to the passage of air in the upper airway. |
| neoplasm of the middle ear | A tumor (abnormal growth of tissue) of the middle ear. |
| abnormality of lower limb epiphysis morphology | An anomaly of one or more epiphyses of one or both legs. |
| hepatic vascular malformations | |
| prominent supraorbital ridges | Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. |
| aplasia/hypoplasia of the middle phalanges of the toes | |
| spina bifida | |
| full cheeks | Increased prominence or roundness of soft tissues between zygomata and mandible. |
| chronic csf lymphocytosis | Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. |
| acute promyelocytic leukemia | An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) |
| partial fusion of tarsals | |
| post-angioplasty coronary artery restenosis | |
| short palm | Short palm. |
| macular flecks | Pale often indistinct lesions of the macula. |
| ectopic kidney | A developmental defect in which a kidney is located in an abnormal anatomic position. |
| t-cell lymphoma/leukemia | A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. |
| lateral femoral bowing | A lateral bending or abnormal curvature of the femur. |
| abnormality of ion homeostasis | Abnormality of the homeostasis (concentration) of a monoatomic ion. |
| elbow dislocation | Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. |
| muscular hypotonia of the trunk | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. |
| subungual hyperkeratotic fragments | |
| cessation of head growth | Stagnation of head growth seen as flattening of the head circumference curve. |
| prominent sternum | |
| posterior scalloping of vertebral bodies | An excessive concavity of the posterior surface of one or more vertebral bodies. |
| decreased purine levels | |
| enlarged epiphysis of the middle phalanx of the 2nd finger | |
| nevus flammeus of the forehead | Naevus flammeus localised in the skin of the forehead. |
| abnormality of the clivus | An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. |
| palmoplantar keratoderma | A keratosis characterized by abnormal thickening of the palms and the soles. |
| aplasia/hypoplasia of the testes | Absence or underdevelopment of the testes. |
| hypercalcemia | |
| abnormality of the distal phalanx of the 5th finger | Abnormality of the distal phalanx of the 5th (little) finger. |
| kyphoscoliosis | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| aggressive behavior | A behavioral interaction between organisms in which one organism has the intention of inflicting physical damage on another individual. |
| spina bifida occulta | The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. |
| pigmentation anomalies of sun-exposed skin | |
| dysmyelinating leukodystrophy | |
| slanting of the palpebral fissure | |
| elevated alkaline phosphatase | Abnormally increased serum levels of alkaline phosphatase activity. |
| hypokalemia | |
| labial hypoplasia | |
| symphalangism of the 5th finger | Fusion of two or more bones of the 5th finger. |
| posterior wedging of vertebral bodies | An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). |
| premature separation of centromeric heterochromatin | |
| abnormality of the forearm | An abnormality of the lower arm. |
| abnormality of the 1st metacarpal | A structural anomaly of the first metacarpal. |
| biparietal narrowing | A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). |
| limb joint contracture | A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. |
| 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). |
| abnormal urine citrate concentration | A deviation from normal of the concentration of citrate(3-) in the urine. |
| budd-chiari syndrome | |
| mood changes | |
| downturned corners of mouth | A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. |
| hyperplastic colonic polyposis | Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. |
| midface capillary hemangioma | |
| episodic peripheral neuropathy | |
| aplasia/hypoplasia involving bones of the thorax | |
| short mandibular condyles | |
| exudative retinopathy | OMIM mapping confirmed by DO. [SN]. |
| linear hyperpigmentation | |
| hypoplasia of the maxilla | Underdevelopment of the Maxilla. |
| allergy | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. |
| medial flaring of the eyebrow | An abnormal distribution of eyebrow hair growth in the medial direction. |
| proximal muscle weakness in lower limbs | A lack of strength of the proximal muscles of the legs. |
| cerebellar vermis atrophy | Wasting (atrophy) of the vermis of cerebellum. |
| microtia | Underdevelopment of the external ear. |
| facial hirsutism | Excess facial hair. |
| recurrent gram-negative bacterial infections | Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. |
| optic nerve dysplasia | The presence of developmental dysplasia of the optic nerve. |
| whistling appearance | An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. |
| hyperpigmentation of the skin | A darkening of the skin related to an increase in melanin production and deposition. |
| anemic pallor | A type of pallor that is secondary to the presence of anemia. |
| asplenia | Absence (aplasia) of the spleen. |
| emg: axonal abnormality | Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. |
| abnormality of the distal phalanx of the 3rd finger | |
| sparse eyebrow | Decreased density/number and/or decreased diameter of eyebrow hairs. |
| hydronephrosis | |
| atlantoaxial dislocation | Partial dislocation of the atlantoaxial joint. |
| elevated urinary norepinephrine | An increased concentration of noradrenaline in the urine. |
| wide-cupped costochondral junctions | |
| glyoxalase deficiency | |
| villous atrophy | The enteric villi are atrophic or absent. |
| bifid ureter | Incomplete duplication of the ureter. |
| hypothyroidism | A deficiency of thyroid hormone. |
| reduced tendon reflexes | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| irregular tarsal ossification | Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| hydroxyprolinemia | An increased concentration of hydroxyproline in the blood. |
| congenital posterior urethral valve | A developmental defect resulting in an obstructing membrane in the posterior male urethra. |
| supravalvular aortic stenosis | |
| leukoencephalopathy | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| abnormal size of the palpebral fissures | An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. |
| retinal hemorrhage | Hemorrhage occurring within the retina. |
| absence of subcutaneous fat over entire body except buttocks, hips, and thighs | |
| paroxysmal lethargy | Repeated episodes of sudden-onset and transient lethargy. |
| rigidity | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |
| bifid uterus | The presence of a bifid uterus. |
| keratoglobus | Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. |
| aplasia/hypoplasia of the optic tract | |
| abnormality of the spleen | An abnormality of the spleen. |
| abnormality of the nipple | An abnormality of the nipple. |
| phthisis bulbi | Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. |
| abnormality of the autonomic nervous system | An abnormality of the autonomic nervous system. |
| absence of pubertal development | |
| cardiovascular calcification | Abnormal calcification in the cardiovascular system. |
| iris atrophy | Atrophy of the iris. |
| radioulnar synostosis | OMIM mapping confirmed by DO. [SN]. |
| lymphadenitis | |
| thoracic platyspondyly | A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. |
| rieger anomaly | A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. |
| 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. |
| umbilical hernia | A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. |
| increased igg level | An abnormally increased level of immunoglobulin G in blood. |
| low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| acute encephalopathy | |
| symptomatic seizures | A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. |
| defect in the atrial septum | |
| sparse facial hair | Reduced number or density of facial hair. |
| abnormality of the ciliary body | A structural anomaly of the ciliary body (FMA:58295). |
| abnormality of body height | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| flat forehead | A forehead with abnormal flatness. |
| aplasia of the sweat glands | Absence of the sweat glands. |
| abnormality of the biliary system | An abnormality of the biliary system. |
| cellulitis | |
| hypoplastic frontal sinuses | Underdevelopment of frontal sinus. |
| increased red cell osmotic resistance | |
| hypoplastic vertebral bodies | |
| limited knee extension | |
| increased muscle glycogen content | An increased amount of glycogen in muscle tissue. |
| hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| peripheral pulmonary vessel aplasia | |
| increased urinary disaccharide excretion | Increased concentration of disaccharide in the urine. |
| abnormality of skeletal muscle fiber size | Any abnormality of the size of the skeletal muscle cell. |
| pelvic kidney | A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. |
| ankle swelling | |
| precocious puberty with sertoli cell tumor | |
| muscle fiber splitting | Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. |
| mosaic corneal dystrophy | |
| absent/hypoplastic coccyx | |
| alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| hyponatremia | An abnormally decreased sodium concentration in the blood. |
| pigmentary retinal degeneration | |
| hydroureter | The distention of the ureter with urine. |
| narrow maxilla | |
| childhood onset short-limb short stature | |
| spinal instability | |
| abnormal hand morphology | Any structural anomaly of the hand. |
| hypoplastic sacrum | |
| joint stiffness | Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. |
| corneal arcus | OMIM mapping confirmed by DO. [SN]. |
| chronic noninfectious lymphadenopathy | A chronic form of lymphadenopathy that is not related to infection. |
| distal shortening of limbs | |
| elevated serum acid phosphatase | Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. |
| axonal regeneration | The presence of axonal regeneration following a previous axonal lesion. |
| 4-5 toe syndactyly | Syndactyly with fusion of toes four and five. |
| aplasia/hypoplasia of the nails | Aplasia or developmental hypoplasia of the nail. |
| increased urinary o-linked sialopeptides | Excretion of peptides conjugated to sialic acid in the urine. |
| persistent pupillary membrane | The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. |
| enlargement of the wrists | |
| abnormality of the skull base | An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. |
| dense posterior cortical cataract | A type of posterior cortical cataract characterized by dense lenticular opacities. |
| abnormality of the amniotic fluid | Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. |
| bradycardia | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| nonarteritic anterior ischemic optic neuropathy | |
| paraplegia/paraparesis | Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. |
| congenital nonbullous ichthyosiform erythroderma | OMIM mapping confirmed by DO. [SN]. |
| progressive forgetfulness | |
| supranuclear gaze palsy | A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| abnormality of the anus | Abnormality of the anal canal. |
| band keratopathy | OMIM mapping confirmed by DO. [SN]. |
| punctate corneal dystrophy | |
| palmar hyperkeratosis | Hyperkeratosis affecting the palm of the hand. |
| visual hallucinations | |
| abnormal hair quantity | An abnormal amount of hair. |
| abnormality of the male genitalia | Abnormality of the male genital system. |
| hypertrophic nerve changes | |
| hypocitraturia | A lower than normal concentration of citrate(3-) in the urine. |
| atelectasis | Collapse of part of a lung associated with absence of inflation (air) of that part. |
| atlantoaxial instability | Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. |
| chondrocalcinosis | An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. |
| abnormal anatomic location of the heart | |
| persistent open anterior fontanelle | The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. |
| somatic mosaicism | The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. |
| prominent nasal tip | |
| ectopic ossification in tendon tissue | Formation of abnormal bony tissue within tendon tissue. |
| neoplasm of the skin | |
| preauricular skin furrow | A groove of the skin immediately in front of the ear. |
| abnormality of the coccyx | An abnormality of the coccyx. |
| micronodular cirrhosis | A type of cirrhosis characterized by the presence of small regenerative nodules. |
| lower limb amyotrophy | Muscular atrophy affecting the lower limb. |
| ambiguous genitalia | A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. |
| reduced consciousness/confusion | |
| congenital malformation of the left heart | |
| lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| proximal radio-ulnar synostosis | An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. |
| alacrima | Absence of tear secretion. |
| abnormality of the ovary | An abnormality of the ovary. |
| limited elbow extension | Limited ability to straighten the arm at the elbow joint. |
| ectopia of the spleen | An abnormal (non-anatomic) location of the spleen. |
| papule | A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. |
| caudal appendage | The presence of a tail-like skin appendage located adjacent to the sacrum. |
| abnormality of homocysteine metabolism | An abnormality of a homocysteine metabolic process. |
| long nose | Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. |
| increased igm level | An abnormally increased level of immunoglobulin M in blood. |
| hypoglycemic coma | |
| dystrophic toenail | Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. |
| c8 deficiency | |
| duodenal polyposis | Presence of multiple polyps in the duodenum. |
| arterial calcification | Pathological deposition of calcium salts in one or more arteries. |
| inappropriate behavior | |
| weakness of muscles of respiration | Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. |
| triangular shaped middle phalanges of the hand | |
| eversion of lateral third of lower eyelids | |
| abnormality of limbs | |
| hyperuricosuria | An abnormally high level of uric acid in the urine. |
| hyperglycinuria | An increased concentration of glycine in the urine. |
| self-mutilation of tongue and lips due to involuntary movements | |
| bifid epiglottis | A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. |
| abnormality of the renal medulla | An abnormality of the medulla of the kidney. |
| abnormality of the testis | An anomaly of the testicle (the male gonad). |
| sudden death | Rapid and unexpected death. |
| osteolytic defects of the distal phalanges of the toes | |
| triangular face | Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. |
| multifocal cerebral white matter abnormalities | |
| aplasia/hypoplasia of the corpus callosum | Absence or underdevelopment of the corpus callosum. |
| embryonal rhabdomyosarcoma | A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. |
| large intestinal polyposis | The presence of multiple polyps in the large intestine. |
| abnormality of the columella | An abnormality of the columella. |
| intrahepatic biliary dysgenesis | |
| distal sensory impairment of all modalities | |
| midclavicular aplasia | Developmental defect resulting in congenital absence of the middle portion of the clavicle. |
| abnormal iron deposition in mitochondria | |
| male infertility | |
| intestinal malrotation | An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. |
| congenital cataract | A congenital cataract. |
| abnormality of the glabella | An abnormality of the glabella. |
| aplasia cutis congenita over the scalp vertex | A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. |
| deep philtrum | Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. |
| short 2nd toe | Underdevelopment (hypoplasia) of the second toe. |
| sperm head anomaly | A structural abnormality of the sperm head. |
| abnormality of branched chain family amino acid metabolism | Abnormality of a branched chain family amino acid metabolic process. |
| depletion of mitochondrial dna in liver | An abnormal reduction in the number of mitochondria in hepatocytes. |
| megaloblastic erythroid hyperplasia | |
| abnormality of the atrial septum | An abnormality of the interatrial septum. |
| sulfite oxidase deficiency | Abnormally reduced sulfite oxidase activity. |
| euthyroid goiter | A goiter that is not associated with functional thyroid abnormalities. |
| dystrophic fingernails | The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. |
| absent urinary urothione | Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. |
| wide capital femoral epiphyses | Abnormally wide morphology of the proximal epiphysis of the femur. |
| reduced lymphocyte surface expression of cd43 (sialophorin) | A reduction in the expression of CD43 on the cell surface of lymphocytes. |
| malignant gastrointestinal tract tumors | |
| irregular acetabular roof | |
| plagiocephaly | Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. |
| generalized neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. |
| prenatal maternal abnormality | |
| mesomelic/rhizomelic limb shortening | |
| short proximal phalanx of thumb | Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| diaphyseal cortical sclerosis | An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| abnormality of the anterior pituitary | |
| uncontrolled eye movements | |
| hematochezia | The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. |
| spinal arteriovenous malformation | |
| tonic pupil | An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. |
| posterior embryotoxon | A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. |
| generalized hyperkeratosis | |
| attention deficit hyperactivity disorder | A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV) |
| inferior vermis hypoplasia | Underdevelopment of the inferior portion of the vermis of cerebellum. |
| pituitary dwarfism | A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. |
| increased serum bile acid concentration | An increase in the concentration of bile acid in the blood. |
| severe intrauterine growth retardation | Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. |
| abnormal morphology of forearm bone | |
| midface prominence | Anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. |
| vestibular hypofunction | Reduced functioning of the vestibular apparatus. |
| onset | The age group in which disease manifestations appear. |
| uterus didelphys | A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. |
| generalized osteoporosis with pathologic fractures | |
| hitchhiker thumb | With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. |
| immunoglobulin igg2 deficiency | A reduction in immunoglobulin levels of the IgG2 subclass. |
| right ventricular outlet obstruction | |
| thickening of the lateral border of the scapula | |
| delayed eruption of teeth | Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. |
| infantile encephalopathy | Encephalopathy with onset in the infantile period. |
| generalized muscle weakness | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| ileus | |
| phosphoethanolaminuria | An increased concentration of phosphoethanolamine in the urine. |
| abnormal circulating aldosterone | |
| respiratory insufficiency due to defective ciliary clearance | |
| primary gonadal insufficiency | |
| phalangeal dislocation | |
| aplasia/hypoplasia of the brainstem | |
| colonic diverticulosis | The presence of multiple diverticula of the colon. |
| recurrent corneal erosions | The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. |
| limited extraocular movements | |
| dysplastic testes | |
| incomprehensible speech | |
| mild short stature | A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. |
| fragile nails | Nails that easily break. |
| autosomal dominant inheritance with maternal imprinting | A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. |
| thick upper lip vermilion | Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). |
| prolactin deficiency | A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. |
| loss of retinal pigment epithelium | |
| progressive microcephaly | Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. |
| cortical visual impairment | |
| abnormality of erythrocytes | An abnormality of erythrocytes (red-blood cells). |
| abnormal male germ cell morphology | A structural anomaly of a male reproductive cell. |
| aplasia of the pectoralis major muscle | Absence of the pectoralis major muscle. |
| long toe | Digits that appear disproportionately long compared to the foot. |
| increased csf lactate | Increased concentration of lactate in the cerebrospinal fluid. |
| abnormality of multiple cell lineages in the bone marrow | |
| hypoplastic spleen | Underdevelopment of the spleen. |
| bladder carcinoma | A carcinoma that forms in tissues of the bladder.|Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.|A carcinoma that arises_from tissues of the bladder.|A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. |
| gastrointestinal inflammation | |
| cortical pulverulent cataract | A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. |
| reduced sperm motility | An abnormal reduction in the mobility of ejaculated sperm. |
| rectal prolapse | |
| abnormality of the first metatarsal bone | An anomaly of the first metatarsal bone. |
| abnormality of incisor morphology | An abnormality of morphology of the incisor tooth. |
| long thorax | Increased inferior to superior extent of the thorax. |
| exercise-induced muscle fatigue | An abnormally increased tendency towards muscle fatigue induced by physical exercise. |
| ethylmalonic aciduria | An increased concentration of ethylmalonic acid in the urine. |
| decreased plasma total carnitine | A decreased concentration of total carnitine in the blood. |
| short middle phalanx of the 2nd finger | Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. |
| recurrent infections due to aspiration | |
| aplasia/hypoplasia of the abdominal wall musculature | Absence or underdevelopment of the abdominal musculature. |
| metaphyseal cupping of proximal phalanges | Metaphyseal cupping affecting the proximal phalanges. |
| flat face | Absence of concavity or convexity of the face when viewed in profile. |
| abnormality of the hepatic vasculature | An abnormality of the hepatic vasculature. |
| peripheral vitreous opacities | |
| neuronal loss in basal ganglia | A reduction in the number of nerve cells in the basal ganglia. |
| endocarditis | A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).|Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.|Inflammation of the endocardium. |
| multicystic kidney dysplasia | Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. |
| myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| unilateral renal agenesis | A unilateral form of agenesis of the kidney. |
| prolonged bleeding after dental extraction | Prolonged bleeding post dental extraction sufficient to require medical intervention. |
| sclerosis of foot bone | An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| decreased/absent ankle reflexes | |
| femoral bowing present at birth, straightening with time | Congenital onset bending or abnormal curvature of the femur that normalizes with age. |
| abnormality of the nasopharynx | The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. |
| asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| progressive alveolar ridge hypertropy | |
| myelomeningocele | A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. |
| dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| erysipelas | |
| decreased hip abduction | Reduced ability to move the femur outward to the side. |
| dysphagia | Difficulty in swallowing. |
| intervertebral disk calcification | The presence of abnormal calcium deposition of the intervertebral disk. |
| abnormality of sodium homeostasis | An abnormal concentration of sodium. |
| high, narrow palate | The presence of a high and narrow palate. |
| premature loss of permanent teeth | Premature loss of the permanent teeth. |
| abnormality of the middle phalanx of the 2nd finger | |
| barrett esophagus | Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma. |
| primary amenorrhea | |
| aortic valve calcification | Deposition of calcium salts in the aortic valve. |
| neoplasm of striated muscle | A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. |
| complete duplication of the middle phalanges of the hand | A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. |
| abnormal platelet morphology | An anomaly in platelet form, ultrastructure, or intracellular organelles. |
| choanal stenosis | Abnormal narrowing of the choana (the posterior nasal aperture). |
| short neck | Diminished length of the neck. |
| vitamin d deficiency | |
| posterior pharyngeal cleft | |
| prominent antihelix | The presence of an abnormally prominent antihelix. |
| soft skin | Subjective impression of increased softness upon palpitation of the skin. |
| abnormality of the incisor | An abnormality of the Incisor tooth. |
| neoplasm of the ear | A tumor (abnormal growth of tissue) of the ear. |
| abnormality of the carotid arteries | |
| premaxillary underdevelopment | Reduction in size of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. |
| milia | Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. |
| primary congenital glaucoma | Xref MGI. |
| abnormal circulating creatinine level | An abnormal concentration of creatinine in the blood. |
| widely spaced toes | An overall widening of the spaces between the digits. |
| reduced thyroxin-binding globulin | An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. |
| opsoclonus | Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. |
| gait instability, worse in the dark | |
| eczema | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| extension of hair growth on temples to lateral eyebrow | A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows. |
| cyst of the eyelid | |
| migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| oroticaciduria | A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. |
| telecanthus | Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. |
| abnormal platelet function | Any anomaly in the function of thrombocytes. |
| chronic leukemia | A leukemia that develops slowly. |
| atrophy of alveolar ridges | |
| abnormality of the vasculature of the conjunctiva | Any abnormality of the blood vessels of the conjunctiva. |
| aortic dilatation | |
| generalized hypopigmentation | |
| antegonial notching of mandible | |
| chin dimple | A persistent midline depression of the skin over the fat pad of the chin. |
| schistocytosis | The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. |
| congenital hemolytic anemia | |
| minicore (multicore) myopathy | Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. |
| 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. |
| aplastic clavicles | Absence of the clavicles as a developmental defect. |
| coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| osteopoikilosis | An osteosclerosis that results_in numerous bone islands located_in skeleton. |
| abnormality of the tibia | Abnormality of the tibia (shinbone). |
| severe short-limb dwarfism | |
| fifth finger distal phalanx clinodactyly | Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). |
| aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| abnormality of urine catecholamine concentration | An abnormal level of urinary catecholamine concentration. |
| iris hypopigmentation | An abnormal reduction in the amount of pigmentation of the iris. |
| perifollicular fibrosis | Presence of excess fibrous connective tissue surrounding hair follicules. |
| hepatic failure | |
| poor hand-eye coordination | |
| progressive proximal muscle weakness | Lack of strength of the proximal muscles that becomes progressively more severe. |
| abnormal large intestine physiology | A functional anomaly of the large intestine. |
| abnormality of dental structure | An abnormality of the structure or composition of the teeth. |
| prominent superficial blood vessels | |
| poor gross motor coordination | |
| cholesteatoma | |
| tubulointerstitial nephritis | |
| scarring alopecia of scalp | |
| hallucinations | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. |
| granular osmiophilic deposits (grod) in cells | |
| enuresis | Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. |
| decreased central vision | |
| pigmentary retinal deposits | |
| bimanual synkinesia | Mirror hand movements. |
| rocker bottom foot | The presence of both a prominent heel and a convex contour of the sole. |
| ketoacidosis | Acidosis resulting from accumulation of ketone bodies. |
| proptosis | An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. |
| choanal atresia | OMIM mapping confirmed by DO. [SN]. |
| cartilaginous trachea | |
| pierre-robin sequence | Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. |
| dental malocclusion | Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. |
| gastroparesis | |
| 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). |
| hypoproteinemia | A decreased concentration of protein in the blood. |
| paroxysmal bursts of laughter | |
| congenital onychodystrophy | |
| long-tract signs | Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. |
| myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| ring fibers | Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. |
| malabsorption of vitamin b12 | |
| adult-onset night blindness | Inability to see well at night or in poor light with onset in adulthood. |
| hypoglycorrhachia | Abnormally low glucose concentration content in the cerebrospinal fluid. |
| pancreatic islet-cell hyperplasia | Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. |
| abnormality of the fourth ventricle | An abnormality of the fourth ventricle. |
| hypernatremia | An abnormally increased sodium concentration in the blood. |
| abnormal facial expression | |
| childhood onset sensorineural hearing impairment | Sensorineural hearing impairment with childhood onset. |
| tenesmus | A repeated, painful urge to defecate without excreting stool. |
| aplasia/hypoplasia of the inner ear | Aplasia or developmental hypoplasia of the inner ear. |
| ectopic calcification | Deposition of calcium salts in a tissue or location in which calcification does not normally occur. |
| pulmonic stenosis | |
| abnormality of the distal phalanx of the hallux | |
| deficiency or absence of cytochrome b(-245) | |
| absent uvula | Lack of the uvula. |
| enuresis nocturna | Enuresis occurring during sleeping hours. |
| progressive macrocephaly | The progressive development of an abnormally large skull. |
| restrictive respiratory insufficiency | |
| lip telangiectasia | Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. |
| pseudopapilledema | OMIM mapping confirmed by DO. [SN]. |
| irregular proximal tibial epiphyses | Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. |
| anal stenosis | Abnormal narrowing of the anal opening. |
| central diabetes insipidus | OMIM mapping confirmed by DO. [SN]. |
| abnormality of the sacroiliac notch | |
| hyperostosis frontalis interna | Bony overgrowth of the internal (endosteal) surface of the frontal bone. |
| coat hanger sign of ribs | An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). |
| abnormal urine chloride concentration | An abnormal concentration of chloride in the urine. |
| myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| hypnagogic hallucinations | |
| abnormality of the retinal vasculature | An arterial or venous retinal vascular anomaly. |
| absent specific antibody response | |
| joint hypermobility | The ability of a joint to move beyond its normal range of motion. |
| recurrent respiratory infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| normochromic anemia | |
| renal atrophy | Atrophy of the kidney. |
| neuroectodermal neoplasm | A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. |
| peripheral axonal degeneration | Progressive deterioration of peripheral axons. |
| hyposthenuria | An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. |
| abnormality of dental morphology | An abnormality of the morphology of the tooth. |
| triceps aplasia | Absence of the triceps muscle. |
| aplasia/hypoplasia of the fovea | Congenital absence or underdevelopment of the fovea centralis. |
| silver-gray hair | Hypopigmented hair that appears silver-gray. |
| fragmented epiphyses | Fragmented appearance of the epiphyses. |
| opacification of the corneal stroma | Reduced transparency of the stroma of cornea. |
| tibial deviation of toes | |
| aplasia/hypoplasia of the cochlea | Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. |
| hypoplastic heart | |
| encephalocele | A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. |
| gastroesophageal reflux | Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. |
| periodic hyperkalemic paralysis | |
| duplication of thumb phalanx | Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| ectopia lentis | Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. |
| sensory neuropathy | A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. |
| hiatus hernia | OMIM mapping confirmed by DO. [SN]. |
| vertebral fusion | A developmental defect leading to the union of two adjacent vertebrae. |
| nonketotic hypoglycemia | |
| urinary excretion of sialylated oligosaccharides | Excretion of oligosaccharides conjugated to sialic acid in the urine. |
| depressed nasal ridge | Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. |
| oromotor apraxia | |
| premature loss of primary teeth | Loss of the primary (also known as deciduous) teeth before the usual age. |
| brachytelomesophalangy | Disproportionately short middle and distal phalanges compared to the hand/foot. |
| hyperopic astigmatism | A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. |
| long palpebral fissure | Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. |
| congenital ichthyosiform erythroderma | OMIM mapping confirmed by DO. [SN]. |
| macular retinal pigment epithelial mottling | Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. |
| congenital hip dislocation | |
| aplasia/hypoplasia involving the sinuses | Absence or underdevelopment of a cranial sinus or sinuses. |
| abnormal vascular physiology | Abnormality of vascular function. |
| spontaneous, recurrent epistaxis | |
| decreased activity of mitochondrial complex i | A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. |
| neoplasm of the respiratory system | A tumor (abnormal growth of tissue) of the respiratory system. |
| portal hypertension | |
| obsessive-compulsive trait | The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. |
| chin with h-shaped crease | H-shaped crease in the fat pad of the chin. |
| supraventricular arrhythmia | A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. |
| spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| hypoplasia of the semicircular canal | Underdevelopment of the semicircular canal. |
| abnormal vertebral ossification | An abnormality of the formation and mineralization of one or more vertebrae. |
| distichiasis | Double rows of eyelashes. |
| 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. |
| exaggerated cupid's bow | More pronounced paramedian peaks and median notch of the Cupid's bow. |
| broad columella | Increased width of the columella. |
| anterior segment of eye aplasia | |
| abnormality of the upper respiratory tract | An abnormality of the upper respiratory tract. |
| interosseus muscle atrophy | Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. |
| aplasia/hypoplasia involving the femoral head and neck | |
| insulin-resistant diabetes mellitus | A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. |
| hypohidrotic ectodermal dysplasia | A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
| age-related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| csf lymphocytic pleiocytosis | An increased lymphocyte count in the cerebrospinal fluid. |
| hemolytic-uremic syndrome | Xref MGI. |
| hyperglycinemia | An elevated concentration of glycine in the blood. |
| adrenocortical carcinoma | An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| splayed epiphyses | Flaring (widening) of the epiphysis. |
| depression | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| duplication of the distal phalanx of the hallux | |
| pancreatic pseudocyst | Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. |
| increased red cell hemolysis by shear stress | |
| peripheral arterial stenosis | |
| absent inner dynein arms | Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| hypoplasia of the ear cartilage | |
| dysdiadochokinesis | A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee. |
| bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| myoclonic spasms | |
| chronic lung disease | According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. |
| elevated plasma branched chain amino acids | An increased concentration of a branched chain amino acid in the blood. |
| abnormal renal morphology | Any structural anomaly of the kidney. |
| muscle fiber cytoplasmatic inclusion bodies | The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. |
| secondary hyperparathyroidism | |
| sacral lipoma | Presence of a lipoma in the region of the sacrum. |
| tremor | An unintentional, oscillating to-and-fro muscle movement. |
| spinal cord posterior columns myelin loss | |
| 2-3 toe cutaneous syndactyly | |
| vitreous detachment | |
| titubation | Nodding movement of the head or body. |
| postnatal growth retardation | Slow or limited growth after birth. |
| abnormal heart morphology | Any structural anomaly of a heart. |
| hypoplastic sacral vertebrae | |
| blue sclerae | An abnormal bluish coloration of the sclera. |
| external genital hypoplasia | Underdevelopment of part or all of the external reproductive organs. |
| shortening of all phalanges of the toes | Developmental hypoplasia (shortening) of all phalanges of the foot. |
| incisor macrodontia | Increased size of the incisor tooth. |
| impaired neutrophil bactericidal activity | A reduction in the ability of neutrophils to kill bacteria. |
| broad nasal tip | Increase in width of the nasal tip. |
| abnormal hair laboratory examination | |
| abnormality of the nasal dorsum | An abnormality of the nasal dorsum, also known as the nasal ridge. |
| lower limb undergrowth | Leg shortening because of underdevelopment of one or more bones of the lower extremity. |
| percussion-induced rapid rolling muscle contractions (pirc) | |
| retinal arteriolar tortuosity | The presence of an increased number of twists and turns of the retinal arterioles. |
| elevated mean arterial pressure | |
| hypoplasia of the vagina | Developmental hypoplasia of the vagina. |
| adactyly | The absence of all phalanges of all the digits of a limb and the associated soft tissues. |
| bell-shaped thorax | The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, follwed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. |
| abnormality of the fingernails | An abnormality of the fingernails. |
| 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. |
| polydactyly affecting the 2nd finger | |
| abnormality of the fifth metatarsal bone | An anomaly of the fifth metatarsal bone. |
| spatulate ribs | Ribs that are increased in width and taper to the posterior ends. |
| denervation of the diaphragm | Interruption of the innervation of the diaphragm. |
| absence of renal corticomedullary differentiation | A lack of differentiation between renal cortex and medulla on diagnostic imaging. |
| abnormality of the proximal phalanx of the 2nd finger | |
| midgut malrotation | |
| choroid plexus cyst | A cyst occurring within the choroid plexus within a cerebral ventricle. |
| hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| prostatitis | Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. |
| abnormal retinal pigmentation | |
| abnormal shape of the palpebral fissure | The presence of an abnormal shape of the palpebral fissure. |
| congenital foot contractures | |
| metabolic acidosis | A lactic acidosis that has_material_basis_in high levels of acid. |
| atrophy/degeneration involving the spinal cord | |
| abnormality of neutrophils | A neutrophil abnormality. |
| fibular bowing | A bending or abnormal curvature of the fibula. |
| angina pectoris | Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. |
| myxoid subcutaneous tumors | |
| abnormalities of placenta or umbilical cord | An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). |
| pendular nystagmus | Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. |
| abnormality of the ileum | |
| elevated calcitonin | Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. |
| recurrent singultus | A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. |
| abnormal lymphocyte count | |
| abnormality of arginine metabolism | An abnormality of a arginine metabolic process. |
| aplasia of the optic tract | |
| aplasia/hypoplasia of the phalanges of the hand | Small or missing phalangeal bones of the fingers of the hand. |
| abnormality of carboxylic acid metabolism | An abnormality of the metabolism of a carboxylic acid. |
| hyperkalemia | An abnormally increased potassium concentration in the blood. |
| paucity of anterior horn motor neurons | |
| hypoplasia of first ribs | |
| laryngomalacia | Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. |
| dental crowding | Overlapping teeth within an alveolar ridge. |
| hypertrophy of skin of soles | |
| hypopigmented skin patches | |
| 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. |
| leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| gastrointestinal angiodysplasia | Dysplasia affecting the vasculature of the gastrointestinal tract. |
| abnormality of the cerebellum | An abnormality of the cerebellum. |
| warfarin-induced skin necrosis | |
| meckel diverticulum | OMIM mapping confirmed by DO. [SN]. |
| erlenmeyer flask deformity of the femurs | Flaring of distal femur. |
| monocytosis | An increased number of circulating monocytes. |
| accelerated skeletal maturation | An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. |
| abnormality of the nasolacrimal system | An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. |
| type 1 muscle fiber atrophy | Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. |
| abnormality of endocrine pancreas physiology | A function abnormality of the endocrine pancreas. |
| abnormality of the vertebral spinous processes | |
| normal interictal eeg | |
| ivory epiphyses | Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. |
| ophthalmoparesis | Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. |
| abnormality of nervous system morphology | A structural anomaly of the nervous system. |
| increased corneal curvature | An increase in the degree of curvature of the cornea compared to normal. |
| functional abnormality of the gastrointestinal tract | Abnormal functionality of the gastrointestinal tract. |
| irido-fundal coloboma | The presence of a coloboma of iris, choroid and retina. |
| neurological speech impairment | |
| tarsal stippling | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. |
| vertical nystagmus | Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. |
| thymus hyperplasia | Enlargement of the thymus. |
| cerebellar hemisphere hypoplasia | |
| lobar holoprosencephaly | A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. |
| anterior bowing of long bones | An abnormal anterior curvature of a long bone. |
| abnormality of facial skeleton | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| abnormal conjugate eye movement | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| occasional neurofibromas | Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. |
| absent in utero ossification of vertebral bodies | |
| late onset congenital glaucoma | |
| disc-like vertebral bodies | |
| abnormality of the vocal cords | An abnormality of the vocal cord. |
| intermittent microsaccadic pursuits | |
| alternating esotropia | |
| reticulocytosis | An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. |
| chondroitin sulfate excretion in urine | An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. |
| hamartoma of the eye | A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. |
| abnormality of the placenta | An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. |
| broad eyebrow | Regional increase in the width (height) of the eyebrow. |
| temperature instability | Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. |
| abnormal autonomic nervous system morphology | A structural abnormality of the autonomic nervous system. |
| absent primary metaphyseal spongiosa | |
| triangular shaped phalanges of the 3rd finger | Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| vaginal fistula | The presence of a fistula of the vagina. |
| increased extraneuronal autofluorescent lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| abnormality of long-chain fatty-acid metabolism | An abnormality of long-chain fatty acid metabolism. |
| gonadal hypoplasia | |
| narrow nail | Decreased width of nail. |
| hypoplasia of the iris | Congenital underdevelopment of the iris. |
| ankylosis of feet small joints | |
| severe hearing impairment | A severe form of hearing impairment. |
| duplication of the middle phalanx of hand | This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| abnormality of the foot musculature | An anomaly of the musculature of foot. |
| absent/hypoplastic paranasal sinuses | Aplasia or hypoplasia of the paranasal sinuses. |
| autoimmunity | |
| proximal muscle weakness | A lack of strength of the proximal muscles. |
| abnormality of the outer ear | An abnormality of the external ear. |
| astrocytosis | Proliferation of astrocytes in the area of a lesion of the central nervous system. |
| vascular neoplasm | A benign or malignant neoplasm (tumour) originating in the vascular system. |
| abnormality of circle of willis | An anomaly of the circle of Willis, also known as the cerebral arterial circle. |
| loss of ability to walk in early childhood | |
| abnormality of the caudate nucleus | An abnormality of the caudate nucleus. |
| abnormal pulmonary lymphatics | An abnormality of the pulmonary lymphatic chain. |
| diffuse leukoencephalopathy | |
| recurrent subcortical infarcts | |
| reduced prothrombin consumption | The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. |
| duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| carcinoid | A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. |
| granulocytopenia | |
| acute kidney injury | Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). |
| aplasia/hypoplasia of the extremities | Absence (due to failure to form) or underdevelopment of the extremities. |
| abnormality of the urachus | Abnormality of the urachus. |
| vagal paraganglioma | |
| oromandibular dystonia | A focal dystonia that is characterized by distortions of the mouth and tongue. |
| decreased muscle glycogen content | A decreased amount of glycogen in muscle tissue. |
| agenesis of mandibular central incisor | Agenesis of lower secondary incisor or lower primary incisor. |
| abnormality of the knees | An abnormality of the knee joint or surrounding structures. |
| abnormality of skull size | Any abnormality of the size of the skull. |
| hypermagnesemia | An abnormally increased magnesium concentration in the blood. |
| abnormality of subcutaneous fat tissue | |
| diminished movement | |
| 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. |
| coarse facial features | Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. |
| abnormality of the scrotum | |
| abnormality of the umbilicus | Abnormality of the umbilicus. |
| hepatosplenomegaly | Simultaneous enlargement of the liver and spleen. |
| congenital thrombocytopenia | Thrombocytopenia with congenital onset. |
| diaphragmatic weakness | A decrease in the strength of the diaphragm. |
| abnormality of the zygomatic arch | An abnormality of the zygomatic arch, also known as the cheek bone. |
| multiple carpal ossification centers | A delay in the process of formation and maturation of the epiphysis of one or more long bones. |
| aplasia of the vagina | Aplasia of the vagina. |
| abnormality of aspartate family amino acid metabolism | Abnormality of a aspartate family amino acid metabolic process. |
| elevated serum transaminases during infections | Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. |
| abnormality of epiphysis morphology | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| membranous cataract | A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. |
| 11 pairs of ribs | Presence of only 11 pairs of ribs. |
| cystic angiomatosis of bone | Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. |
| mitochondrial encephalopathy | |
| broad alveolar ridges | |
| avascular necrosis of the capital femoral epiphysis | Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. |
| pterygium formation (nails) | |
| endocardial fibrosis | |
| severe muscular hypotonia | A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. |
| eeg with spike-wave complexes (>3.5 hz) | The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). |
| flared iliac wings | Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. |
| hypoplastic philtrum | Underdevelopment of the philtrum. |
| histiocytoma | A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH) |
| secondary growth hormone deficiency | |
| hemiplegia | |
| ophthalmoplegia | |
| cerebral cortical atrophy | Atrophy of the cortex of the cerebrum. |
| flared upper limb metaphysis | The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. |
| dilatation of the abdominal aorta | |
| delayed oxidation of acetaldehyde | In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. |
| proximal femoral metaphyseal irregularity | Irregularity of the normally smooth surface of the proximal metaphysis of the femur. |
| cavitation of the basal ganglia | The formation of small cavities in the tissue of the basal ganglia. |
| astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| abnormality of the shoulder girdle musculature | |
| visual loss | Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that). |
| abnormality of the abdomen | Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. |
| dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| narrow palm | For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. |
| posterior leukoencephalopathy | |
| insulin-dependent but ketosis-resistant diabetes | Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. |
| skin vesicle | A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. |
| abnormality of skin pigmentation | An abnormality of the pigmentation of the skin. |
| thromboembolism | The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. |
| nasal obstruction | Reduced ability to pass air through the nasal cavity often leading to mouth breathing. |
| cerebellar hemorrhage | Hemorrhage into the parenchyma of the cerebellum. |
| spontaneous neonatal pneumothorax | Pneumothorax occurring neonatally without traumatic injury to the chest or lung. |
| neoplasm of the endocrine system | A tumor (abnormal growth of tissue) of the endocrine system. |
| abnormality of the fundus | |
| dialeptic seizures | Seizures characterized by impaired consciousness. |
| short phalanx of finger | Short (hypoplastic) phalanx of finger, affecting one or more phalanges. |
| 3-methylglutaconic aciduria | |
| sinus tachycardia | Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. |
| supernumerary maxillary incisor | The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. |
| chronic bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. |
| amyoplasia | Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. |
| duplication of the proximal phalanx of the hallux | Partial or complete duplication of the proximal phalanx of big toe. |
| choroidal degeneration | Degeneration of the choroid. |
| agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| increased number of peripheral cd3+ t cells | |
| congenital septal defect | |
| abnormality of the parietal bone | Any abnormality of the parietal bone of the skull. |
| ventricular escape rhythms | |
| 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. |
| toe syndactyly | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as Symphalangism. |
| recurrent skin infections | Infections of the skin that happen multiple times. |
| thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| ectopic thyroid | Mislocalised thyroid gland. |
| enlarged fossa interpeduncularis | |
| astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| arrhythmia | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| chronic acidosis | Longstanding abnormal acid accumulation or depletion of base. |
| 2-3 finger syndactyly | Syndactyly with fusion of fingers two and three. |
| club-shaped distal femur | An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. |
| abnormality of the nasal tip | An abnormality of the nasal tip. |
| paroxysmal involuntary eye movements | Sudden-onset episode of abnormal, involuntary eye movements. |
| arterial tortuosity | Abnormal tortuous (i.e., twisted) form of arteries. |
| pseudobulbar signs | Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. |
| abdominal distention | Distention of the abdomen. |
| skin rash | |
| cellular metachromasia | Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. |
| abnormality of the pulmonary veins | An abnormality of the pulmonary veins. |
| limited wrist extension | |
| 3-methylglutaric aciduria | |
| diffuse nuclear cataract | Opacity of the entire lens nucleus. |
| angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| abnormal pattern of respiration | An anomaly of the rhythm or depth of breathing. |
| aplasia/hypoplasia of the nasal septum | Absence or underdevelopment of the nasal septum. |
| short foot | A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). |
| tongue thrusting | |
| 4-5 finger syndactyly | Syndactyly with fusion of fingers four and five. |
| abnormality of the nasal bridge | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| proximal tubulopathy | Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. |
| molybdenum cofactor deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| reduced activity of n-acetylglucosaminyltransferase ii | An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. |
| progressive external ophthalmoplegia | |
| recurrent bronchopulmonary infections | An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. |
| broad philtrum | Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. |
| abnormality of the ocular region | |
| abnormality of the cerebral cortex | An abnormality of the cerebral cortex. |
| muscle fibrillation | Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. |
| biliary cirrhosis | liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts |
| small hand | Disproportionately small hand. |
| abnormality of the choroid | |
| yellow subcutaneous tissue covered by thin, scaly skin | |
| early onset of sexual maturation | An early onset of puberty, in this case early does not refer to precocious. |
| short distal phalanx of the 5th finger | Hypoplastic/small distal phalanx of the fifth finger. |
| single interphalangeal crease of fifth finger | Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. |
| cor pulmonale | A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. |
| abnormality of the distal phalanges of the toes | |
| hypoplastic toenails | Underdevelopment of the toenail. |
| abnormality of periauricular region | |
| craniofacial hyperostosis | Excessive growth of the craniofacial bones. |
| abnormality of the middle ear ossicles | An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). |
| maternal hypertension | Increased blood pressure during a pregnancy. |
| optic nerve compression | |
| intrahepatic cholestasis with episodic jaundice | |
| abnormality of corneal endothelium | Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. |
| oligomenorrhea | Infrequent menses (less than 6 per year or more than 35 days between cycles). |
| endopolyploidy on chromosome studies of bone marrow | An increase in the number of chromosome sets per cell in bone marrow cells. |
| heberden's node | Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically. |
| hypotension | Blood pressure that is abnormally low. |
| tracheomalacia | A tracheal disease characterized by flaccidity of the tracheal support cartilage. |
| increased connective tissue | The presence of an abnormally increased amount of connective tissue. |
| hypsarrhythmia | Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). |
| poliosis | Circumscribed depigmentation of the hair of the head or the eyelashes. |
| shortening of all distal phalanges of the fingers | Hypoplasia of all of the distal phalanx of finger. |
| abnormality of the left ventricle | An abnormality of the left ventricle of the heart. |
| aplasia/hypoplasia of the phalanges of the thumb | |
| carious teeth | |
| granulovacuolar degeneration | Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. |
| osteolysis involving tarsal bones | An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. |
| aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| absent vertebral body mineralization | A lack of bone mineralization of the vertebral bodies. |
| reduction of oligodendroglia | |
| increased mean platelet volume | Average platelet volume above the upper limit of the normal reference interval. |
| abnormality of brainstem morphology | An anomaly of the brainstem. |
| humeroradial synostosis | An abnormal osseous union (fusion) between the radius and the humerus. |
| esophageal varix | |
| phenotypic variability | A variability of phenotypic features. |
| high-frequency sensorineural hearing impairment | A form of sensorineural hearing impairment that affects primarily the higher frequencies. |
| recurrent mycobacterium avium complex infections | Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. |
| aphalangy of the hands | Absence of a digit or of one or more phalanges of a finger. |
| abnormality of the gallbladder | An abnormality of the gallbladder. |
| respiratory failure requiring assisted ventilation | |
| knee osteoarthritis | |
| absence of cd8+ t cells | |
| reduced number of corneal endothelial cells | A reduction in the number of corneal endothelial cells. |
| overtubulated long bones | Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. |
| hyperphosphatemia | |
| abnormality of lipid metabolism | |
| acute respiratory tract infection | An acute infection of the upper or lower respiratory tract. |
| headache (with pheochromocytoma) | |
| increased urinary potassium | An increased concentration of potassium(1+) in the urine. |
| movement abnormality of the tongue | |
| advanced eruption of teeth | Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. |
| broad chin | Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. |
| frontoparietal polymicrogyria | An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region. |
| broad-based gait | An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. |
| schizencephaly | The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. |
| renal insufficiency | |
| sternal punctate calcifications | |
| macrovesicular hepatic steatosis | A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. |
| cerebral dysmyelination | Defective structure and function of myelin sheaths of the white matter of the brain. |
| abnormality of phagocytes | An abnormality of phagocytes. |
| hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| distal/middle symphalangism of 5th finger | Fusion of the terminal/distal and middle phalanges of the 5th finger. |
| abnormality of the posterior cranial fossa | An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. |
| abnormality of the aorta | An abnormality of the aorta. |
| abnormality of the cervical spine | Any abnormality of the cervical vertebral column. |
| skull defect | A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. |
| pericardial lymphangiectasia | |
| st segment elevation | An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. |
| hypercoagulability | |
| abnormality of the 2nd finger | An anomaly of the second finger, also known as the index finger. |
| abnormal protein glycosylation | An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
| bilateral microphthalmos | A developmental anomaly characterized by abnormal smallness of both eyes. |
| palmar telangiectasia | The presence of telangiectases on the skin of palm of hand. |
| 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. |
| renal cortical microcysts | Cysts of microscopic size confined to the cortex of the kidney. |
| pelvic girdle amyotrophy | Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. |
| dysphonia | An impairment in the ability to produce voice sounds. |
| high-output congestive heart failure | A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. |
| abnormality of facial musculature | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| telangiectases of the cheeks | Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. |
| abnormal hair whorl | An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). |
| fatigable weakness | A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| unossified vertebral bodies | A lack of ossification of the vertebral bodies. |
| midface retrusion | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| thyroid lymphangiectasia | The presence of lymphangiectasis of the thyroid gland. |
| lower thoracic kyphosis | Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. |
| basal ganglia calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. |
| short ribs | Reduced rib length. |
| retinal arteriolar occlusion | Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. |
| short proximal phalanx of hallux | Underdevelopment (hypoplasia) of the proximal phalanx of big toe. |
| areflexia of lower limbs | Inability to elicit tendon reflexes in the lower limbs. |
| abnormality of abdominal situs | An abnormality of the abdominal situs, i.e., of the sidedness of the abdomin and its organs. |
| foam cells | The presence of foam cells, which cells in an atheroma that can be derived from either macrophages or smooth muscle cells that have taken up modified low density lipoprotein particles and thereby take on a foamy appearance. |
| abnormality of the distal phalanx of the thumb | Any anomaly of the distal phalanx of thumb. |
| reduced alpha/beta synthesis ratio | A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. |
| duane anomaly | Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows. |
| proteinuria | |
| abnormality of superior crus of antihelix | An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. |
| swelling of proximal interphalangeal joints | |
| impaired smooth pursuit | An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. |
| short 3rd finger | Hypoplastic/small 3rd (middle) finger. |
| 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. |
| broad clavicles | Increased width (cross-sectional diameter) of the clavicles. |
| ganglioneuroblastoma | A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular.|A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. |
| ulnar deviation of finger | Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. |
| mitral stenosis | A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. |
| acute rhabdomyolysis | An acute form of rhabdomyolysis. |
| sleep apnea | A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. |
| craniofacial osteosclerosis | Abnormally increased density of craniofacial bone tissue. |
| gm2-ganglioside accumulation | |
| 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. |
| short ear | Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. |
| abnormality of the metaphyses | An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. |
| irregularly spaced teeth | Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. |
| decreased plasma carnitine | A decreased concentration of carnitine in the blood. |
| polycystic kidney dysplasia | |
| inability to walk by childhood/adolescence | |
| mucosal telangiectasiae | Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. |
| hypoargininemia | A decreased concentration of arginine in the blood. |
| palmoplantar cutis gyrata | Cutis gyrata of palms and soles. |
| subcapsular cataract | A cataract that affects the region of the lens directly beneath the capsule of the lens. |
| progressive night blindness | |
| abnormality of upper lip vermillion | An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. |
| abnormality of eosinophils | An eosinophil abnormality. |
| abnormal connection of the cardiac segments | |
| osteolytic defects of the hand bones | |
| autism | An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. |
| bile duct proliferation | Proliferative changes of the bile ducts. |
| vascular tortuosity | |
| dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| mitral atresia | A congenital defect with failure to open of the mitral valve orifice. |
| aplasia cutis congenita on trunk or limbs | A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. |
| 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). |
| abnormality of the phalanges of the 2nd finger | Abnormality of the phalanges of the 2nd (index) finger. |
| action tremor | A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. |
| lateral clavicle hook | An excessive upward convexity of the lateral clavicle. |
| hepatocellular necrosis | |
| proportionate short stature | A kind of short stature in which different regions of the body are shortened to a comparable extent. |
| increased csf protein | Increased concentration of protein in the cerebrospinal fluid. |
| abnormality of circulating leptin level | An abnormal concentration of leptin in the blood. |
| hypoplastic lacrimal duct | |
| dysphasia | |
| metaphyseal irregularity | Irregularity of the normally smooth surface of the metaphyses. |
| abnormal cartilage collagen | Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. |
| alveolar rhabdomyosarcoma | A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar |
| aplasia/hypoplasia of the 3rd finger | A small/hypoplastic or absent/aplastic 3rd (middle) finger. |
| mixed hearing impairment | A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. |
| abnormality of the level of lipoprotein cholesterol | An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. |
| abnormality of vitamin metabolism | An anomaly in the metabolism of a vitamin. |
| hypercholesterolemia | An increased concentration of cholesterol in the blood. |
| elevated circulating catecholamine level | An abnormal increase in catecholamine concentration in the blood. |
| psychotic mentation | |
| methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| ovarian neoplasm | A female reproductive organ cancer that is located_in the ovary. |
| reticular retinal dystrophy | |
| fine hair | Hair that is fine or thin to the touch. |
| decreased mean platelet volume | Average platelet volume below the lower limit of the normal reference interval. |
| emg: impaired neuromuscular transmission | An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). |
| 2nd-5th toe middle phalangeal hypoplasia | |
| hip dislocation | Displacement of the femur from its normal location in the hip joint. |
| ulnar deviation of the hand or of fingers of the hand | |
| mucopolysacchariduria | Excessive amounts of mucopolysaccharide in the urine. |
| enlarged epiphyses of the middle phalanges of the hand | |
| hypoplasia of the phalanges of the toes | |
| anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| distal femoral bowing | A bending or abnormal curvature of the distal portion of the femur. |
| tetraplegia | |
| hepatic cysts | |
| cervical kyphosis | Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. |
| abnormality of the pericardium | An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. |
| recurrent hypoglycemia | Recurrent episodes of decreased concentration of glucose in the blood. |
| abnormal umbilical stump bleeding | Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. |
| syndactyly | A synostosis that results_in the fusion of two or more digits. |
| celiac disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| increased facial adipose tissue | An increased amount of subcutaneous fat tissue in the face. |
| accumulation of melanosomes in melanocytes | |
| hypernatremic dehydration | |
| abnormality of the tragus | An abnormality of the tragus. |
| anterior lenticonus | A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. |
| long distal phalanx of finger | Increased length of the distal phalanx of finger. |
| atresia of the external auditory canal | Absence or failure to form of the external auditory canal. |
| aplasia/hypoplasia of the clavicles | Absence or underdevelopment of the clavicles (collar bones). |
| generalized papillary lesions | |
| multiple mitochondrial dna deletions | The presence of multiple deletions of mitochondrial DNA (mtDNA). |
| spinal neurofibromas | Neurofibromas originating in the spine. |
| periorbital hyperpigmentation | Increased pigmentation of the skin in the region surrounding the orbit of the eye. |
| cerebellar vermis hypoplasia | Underdevelopment of the vermis of cerebellum. |
| synostosis involving the elbow | |
| jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| cone-shaped epiphyses of the proximal phalanges of the hand | |
| distal muscle weakness | Reduced strength of the musculature of the distal extremities. |
| supernumerary ribs | The presence of more than 12 rib pairs. |
| vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| metatarsal osteolysis | Osteolysis involving metatarsal bones. |
| pulmonary lymphangiectasia | Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. |
| slender nose | |
| enlarged metacarpophalangeal joints | |
| abnormal social behavior | An abnormality of actions or reactions of a person taking place during interactions with others. |
| reduced bone mineral density | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| dense calvaria | An abnormal increase of density of the bones making up the calvaria. |
| toxemia of pregnancy | Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Ecplamsia. |
| curly eyelashes | Abnormally curly or curved eyelashes. |
| lack of skin elasticity | |
| neonatal respiratory distress | Respiratory difficulty as newborn. |
| ventricular tachycardia | |
| osteoma | Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. |
| anterior wedging of l2 | An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). |
| tapered toe | The gradual reduction in girth of the digit from proximal to distal. |
| anterior wedging of l1 | An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). |
| abnormality of the 3rd finger | An anomaly of the third finger. |
| trident hand | A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. |
| abnormality of retinal arteries | |
| aplasia/hypoplasia of the sacrum | Aplasia or developmental hypoplasia of the sacral bone. |
| multiple pterygia | |
| susceptibility to herpesvirus | |
| reduced dihydropyrimidine dehydrogenase activity | |
| severe demyelination of the white matter | A severe loss of myelin from nerve fibers in the central nervous system. |
| thenar muscle weakness | |
| basal ganglia cysts | |
| prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| abnormal cortical gyration | An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. |
| short toe | A toe that appears disproportionately short compared to the foot. |
| decreased activity of the pyruvate dehydrogenase (pdh) complex | |
| thin clavicles | Abnormally reduced diameter (cross section) of the clavicles. |
| transverse vaginal septum | |
| abnormality of the 5th toe | An anomaly of the little toe. |
| metacarpal diaphyseal endosteal sclerosis | Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone. |
| deficient excision of uv-induced pyrimidine dimers in dna | |
| agenesis of incisor | Agenesis of incisor. |
| cystoid macular edema | OMIM mapping confirmed by DO. [SN]. |
| segmental peripheral demyelination | A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. |
| abnormality of the alternate complement pathway | |
| prominent median palatal raphe | Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. |
| abnormality of the lower urinary tract | An abnormality of the lower urinary tract. |
| abnormality of the fourth metatarsal bone | |
| premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| kernicterus | |
| generalized hypotonia due to defect at the neuromuscular junction | |
| anal mucosal leukoplakia | Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. |
| abnormal serum iron | |
| abnormality of circulating fibrinogen | An abnormality of the level of activity of circulating fibrinogen. |
| abnormality of the enteric ganglia | An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. |
| increased body weight | |
| oligodactyly | A developmental defect resulting in the presence of fewer than the normal number of digits. |
| 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 distal phalanges | Aplasia (absence) of the distal phalanges. |
| absent eyelashes | Lack of eyelashes. |
| limited interphalangeal movement | |
| common atrium | Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. |
| adrenocortical hypoplasia | |
| abnormal number of permanent teeth | The presence of an altered number of of permanent teeth. |
| skull asymmetry | |
| nonprogressive disorder | |
| abnormal sex determination | Anomaly of primary or secondary sexual development or characteristics. |
| superior rectus atrophy | Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. |
| hypermetric saccades | A saccade that overshoots the target with the dynamic saccade. |
| increase in t cell number | |
| aplasia/hypoplasia involving bones of the skull | |
| distal symphalangism | |
| multinodular goiter | A goiter characterized by a multinodular enlargement of the thyroid gland. |
| aplastic/hypoplastic toenail | Absence or underdevelopment of the toenail. |
| abnormality of pineal morphology | A structural abnormality of the pineal gland. |
| severe sensorineural hearing impairment | A severe form of sensorineural hearing impairment. |
| short thumb | Hypoplasia (congenital reduction in size) of the thumb. |
| rhegmatogenous retinal detachment | A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. |
| foam cells in visceral organs and cns | |
| short iliac bones | |
| febrile seizures | Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two. |
| gingival hyperkeratosis | Hyperkeratosis of the gingiva. |
| bifid ribs | A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. |
| broad foot | A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. |
| reduced orotidine 5-prime phosphate decarboxylase activity | An abnormal decrease in orotidine 5'-phosphate decarboxylase activity. |
| generalized distal tubular acidosis | |
| coronary artery calcification | Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries. |
| absent styloid process of ulna | |
| anterior rounding of vertebral bodies | |
| autonomic dysregulation | An abnormality of the regulation of the autonomic nervous system. |
| reduced delayed hypersensitivity | Decreased ability to react to a delayed hypersensitivity skin test. |
| brachyturricephaly | |
| quadriceps muscle weakness | Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). |
| loss of consciousness | |
| neoplasm of head and neck | |
| abnormality of the small intestine | An abnormality of the small intestine. |
| coronary atherosclerosis | Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. |
| honeycomb retinal degeneration | |
| hypermyelinated retinal fibers | |
| hypoplasia of the ovary | Developmental hypoplasia of the ovary. |
| finger joint hypermobility | |
| patchy osteosclerosis | Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. |
| constipation | |
| short lower limbs | Shortening of the legs related to developmental hypoplasia of the bones of the leg. |
| abnormality of the glenoid fossa | An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. |
| severe t lymphocytopenia | A severe form of T lymphocytopenia in which the count of T cells is very low or absent. |
| abnormality of the voice | Any abnormality of the voice. |
| underdeveloped superior crus of antihelix | Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. |
| bladder diverticulum | OMIM mapping confirmed by DO. [SN]. |
| noninflammatory macular atrophy | |
| 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. |
| intellectual disability, mild | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
| absent epiphyses | |
| laryngotracheal stenosis | |
| 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. |
| 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. |
| impaired thermal sensitivity | |
| periportal fibrosis | The presence of fibrosis affecting the interlobular stroma of liver. |
| increased intraocular pressure | |
| thin upper lip vermilion | Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). |
| cirrhosis | |
| aplasia/hypoplasia of the musculature of the pelvis | |
| igg deficiency | An abnormally decreased level of immunoglobulin IgG in blood. |
| megacalicosis | A nonobstructive dilatation of the renal major calices due to malformation of the renal papillae. |
| abnormality of chloride homeostasis | An abnormality of chloride homeostasis or concentration in the body. |
| supernumerary vertebral ossification centers | Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. |
| aplasia involving bones of the lower limbs | |
| congenital agranulocytosis | Congenital onset of a marked decrease in the number of granulocytes. |
| medial deviation of the foot | |
| acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) | |
| short distal phalanx of the thumb | Hypoplastic (short) distal phalanx of the thumb. |
| glandular hypospadias | |
| hyperlordosis | Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. |
| sclerocornea | A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. |
| pelvic girdle muscle weakness | Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. |
| abnormal prolactin level | |
| hashimoto thyroiditis | An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. |
| generalized cerebral atrophy/hypoplasia | Generalized atrophy or hypoplasia of the cerebrum. |
| ventricular arrhythmia | |
| aplasia of the parotid gland | Absence of the parotid gland. |
| episodic fever | Periodic (episodic or recurrent) bouts of fever. |
| peptic ulcer | An ulcer of the gastrointestinal tract. |
| flexion contracture of finger | Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. |
| hyposmia | A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). |
| aplasia/hypoplasia of the tibia | Absence or underdevelopment of the tibia. |
| flexion limitation of toes | Limitation of the ability to bend the toes. |
| hypoplastic ischiopubic rami | Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. |
| autosomal dominant somatic cell mutation | |
| anuria | |
| reduced antithrombin iii activity | |
| flattened epiphysis | Abnormal flatness (decreased height) of epiphyses. |
| recurrent protozoan infections | Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. |
| dural ectasia | A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. |
| 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. |
| abnormality of renal calyx morphology | Any abnormality of the morphology of the major calices or minor calices of the kidney. |
| wide pubic symphysis | Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. |
| central adrenal insufficiency | A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. |
| 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. |
| abnormality of the meninges | An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. |
| axial muscle weakness | Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). |
| poor motor coordination | |
| wide nasal base | Increased distance between the attachments of the alae nasi to the face. |
| abnormality of the dental root | An abnormality of the dental root. |
| premature arteriosclerosis | Arteriosclerosis occuring at an age that is younger than usual. |
| neoplasia of the nasopharynx | |
| hypoplasia of the prostate | |
| vacuolated lymphocytes | The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. |
| transient hyperlipidemia | |
| patchy demyelination of subcortical white matter | Patchy loss of myelin from nerve fibers in the central nervous system. |
| frontal lobe dementia | |
| biphenotypic acute leukaemia | A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. |
| abnormality of the vertebral endplates | Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. |
| facial erythema | Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. |
| increased circulating acth level | An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. |
| adrenogenital syndrome | Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. |
| accelerated bone age after puberty | |
| abnormality of neutrophil morphology | An abnormal form or size of neutrophils. |
| urogenital fistula | The presence of a fistula affecting the genitourinary system. |
| externally rotated/abducted legs | |
| renal calcium wasting | High urine calcium in the presence of hypocalcemia. |
| acute necrotizing encephalopathy | |
| abnormality of mucopolysaccharide metabolism | An abnormality of the metabolism of mucopolysaccharide. |
| cerebellar dysplasia | The presence of developmental dysplasia of the cerebellum. |
| dystonia | |
| recurrent upper respiratory tract infections | An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). |
| short phalanx of hallux | Underdevelopment (hypoplasia) of a phalanx of big toe. |
| abnormality of the stomach | An abnormality of the stomach. |
| increased intramuscular fat | An abnormal increase in the amount of intramuscular fat tissue. |
| thin proximal phalanges with broad epiphyses of the hand | removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) |
| ankyloglossia | Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. |
| abnormality of cellular immune system | An abnormality of the morphology or counts of the cells that make up the immune system. |
| hypoplasia of proximal radius | Proximal radial shortening owing to a congenital defect of development. |
| bilateral vestibular schwannoma | A bilateral vestibular Schwannoma (acoustic neurinoma). |
| growth hormone excess | |
| rudimentary fibula | Absent or nearly absent fibula. (Does not include aplastic) |
| 2-4 finger syndactyly | Syndactyly with fusion of the fingers two to four. |
| abnormality of mouth size | |
| large tarsal bones | |
| fragile skin | Skin that splits easily with minimal injury. |
| restrictive heart failure | |
| long ear | Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. |
| sunken cheeks | Lack or loss of the soft tissues between the zygomata and mandible. |
| orofacial dyskinesia | |
| aplasia/hypoplasia of the patella | Absence or underdevelopment of the patella. |
| partial duplication of the distal phalanx of the hallux | |
| cataplexy | A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. |
| thick skull base | |
| juvenile myelomonocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| capitate-hamate fusion | |
| dislocated radial head | A dislocation of the head of the radius from its socket in the elbow joint. |
| aspirin-induced asthma | A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. |
| vestibular schwannoma | |
| medially deviated second toe | Medial deviation of the second toe. |
| sporadic | Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. |
| microangiopathic hemolytic anemia | |
| purpura | |
| respiratory difficulties | |
| urethral stenosis | Abnormal narrowing of the urethra. |
| post-transfusion thrombocytopenia | Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. |
| forearm reduction defects | |
| palmoplantar cutis laxa | Loose, wrinkled skin of hands and feet. |
| perineal hypospadias | Hypospadias with location of the urethral meatus in the perineal region. |
| absent nipple | Congenital failure to develop, and absence of, the nipple. |
| abnormality of threonine metabolism | Abnormality of a threonine metabolic process. |
| reduced factor v activity | |
| confusion | Lack of clarity and coherence of thought, perception, understanding, or action. |
| akinetic mutism | A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. |
| recurrent meningococcal disease | Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. |
| megacystis | Dilatation of the bladder postnatally. |
| lower limb pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. |
| c1-c2 subluxation | A partial dislocation of the atlantoaxial joints. |
| abnormality of the musculature of the thigh | |
| hyperchylomicronemia | OMIM mapping confirmed by DO. [SN]. |
| impaired use of nonverbal behaviors | Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. |
| hypoplasia of the lesser trochanter | Underdevelopment of the lesser trochanter. |
| benign gastrointestinal tract tumors | |
| abnormality of circulating enzyme level | |
| cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| hypoplastic radial head | |
| sparse pubic hair | Reduced number or density of pubic hair. |
| decreased pyruvate carboxylase activity | A decreased rate of pyruvate carboxylase activity. |
| elevated circulating parathyroid hormone (pth) level | An abnormal increased concentration of parathyroid hormone. |
| multiple small medullary renal cysts | |
| abnormality of the lacrimal gland | Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. |
| juvenile zonular cataracts | |
| abnormality of lower limb joint | |
| abnormal respiratory system morphology | A structural anomaly of the respiratoy system. |
| abnormality of calcium homeostasis | An abnormality of calcium ion homeostasis. |
| aplasia/hypoplasia involving the skeletal musculature | Absence or underdevelopment of the musculature. |
| lens coloboma | A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. |
| abnormal number of teeth | The presence of an altered number of of teeth. |
| shield chest | A broad chest. |
| respiratory paralysis | Inability to move the muscles of respiration. |
| 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). |
| tetralogy of fallot | OMIM mapping confirmed by DO. [LS]. |
| decreased skull ossification | A reduction in the magnitude or amount of ossification of the skull. |
| macrodontia of permanent maxillary central incisor | Increased size of the maxillary central secondary incisor tooth. |
| bifid distal phalanx of toe | |
| aplasia/hypoplasia involving the central nervous system | Absence or underdevelopment of tissue in the central nervous system. |
| auras | Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure. |
| broad ischia | Increased width of the ischium, which forms the lower and back part of the hip bone. |
| multiple cafe-au-lait spots | The presence of six or more cafe-au-lait spots. |
| talipes valgus | Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. |
| tracheal calcification | |
| neoplasm of the genitourinary tract | A tumor (abnormal growth of tissue) of the genitourinary system. |
| tibial bowing | A bending or abnormal curvature of the tibia. |
| elevated tissue non-specific alkaline phosphatase | An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. |
| blurred vision | Lack of sharpness of vision resulting in the inability to see fine detail. |
| abnormality of molar morphology | An abnormality of morphology of molar tooth. |
| delayed menarche | First period after the age of 15 years. |
| first degree atrioventricular block | |
| hypermobility of distal interphalangeal joints | |
| nasolacrimal duct obstruction | any impediment or blockage 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; may be either congenital or acquired; obstruction of the nasolacrimal duct leads to the excess overflow of tears called epiphora |
| palate telangiectasia | The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. |
| short hard palate | Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). |
| fetal cystic hygroma | The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. |
| multiple palmar creases | The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). |
| aplasia/hypoplasia affecting the eyelid | Absence or underdevelopment of the eyelid. |
| multiple rib fractures | More than one fracture of the ribs. |
| thymic hormone decreased | |
| protuberances at ends of long bones | The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. |
| horizontal sacrum | |
| capillary hemangiomas | |
| deviation of finger | Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. |
| diffuse cerebral atrophy | Diffuse unlocalised atrophy affecting the cerebrum. |
| stress/infection-induced lactic acidosis | A form of lactic acidemia that occurs in relation to stress or infection. |
| pallor | Abnormally pale skin. |
| involuntary writhing movements | |
| abnormality of the intervertebral disk | An abnormality of the intervertebral disk. |
| increased adipose tissue around the neck | An increased amount of subcutaneous fat tissue around the neck. |
| abnormality of the stapes | An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. |
| slow progression | |
| anaphylactoid purpura | |
| wrist swelling | |
| angiokeratoma corporis diffusum | OMIM mapping confirmed by DO. [SN]. |
| aplasia/hypoplasia of the vagina | Aplasia or developmental hypoplasia of the vagina. |
| abnormality of joint mobility | An abnormality in the range and ease of motion of joints across their normal range. |
| shortened pr interval | Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. |
| paroxysmal drowsiness | Attacks of disabling daytime drowsiness and low alertness. |
| symmetric spinal nerve root neurofibromas | Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. |
| severe myopia | A severe form of myopia with greater than -6.00 diopters. |
| 1-3 toe syndactyly | Syndactyly with fusion of toes one to three. |
| abnormality of the abdominal musculature | An abnormality of the abdominal musculature. |
| episodic quadriplegia | Intermittent episodes of paralysis of all four limbs. |
| anoperineal fistula | The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. |
| food intolerance | A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. |
| neuronal loss in central nervous system | This finding can be demonstrated by neuropathology. |
| viral hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| hereditary nonpolyposis colorectal carcinoma | |
| subretinal exudate | A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. |
| 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. |
| renal cortical adenoma | The presence of an adenoma in the cortex of the kidney. |
| junctional split | The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. |
| hand polydactyly | A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. |
| intestinal polyp | A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. |
| extrapyramidal dyskinesia | |
| large clumps of pigment irregularly distributed along hair shaft | |
| skin dimples | Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. |
| absent pigmentation of the ventral chest | Lack of skin pigmentation (coloring) of the anterior chest. |
| large eyes | Increased size of the ocular globe (eyeball). |
| impaired t cell function | |
| abnormality of the toenails | An anomaly of the toenail. |
| achilles tendon contracture | A contracture of the Achilles tendon. |
| abnormality of muscle fibers | Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. |
| low frustration tolerance | |
| herpes simplex encephalitis | A severe virus infection of the central nervous system by the herpes simplex virus (HSV). |
| upper limb muscle weakness | Weakness of the muscles of the arms. |
| abnormality of sulfur amino acid metabolism | An abnormality of a sulfur amino acid metabolic process. |
| decreased testosterone in males | |
| 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. |
| partial absence of thumb | The absence of a phalangeal segment of a thumb. |
| bilateral lung agenesis | Bilateral lack of development of the lungs. |
| irregular distal femoral epiphysis | Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. |
| unilateral chest hypoplasia | |
| narrow chest | Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. |
| prolonged bleeding after surgery | Bleeding that persists longer than the normal time following a surgical procedure. |
| lower eyelid coloboma | A short discontinuity of the margin of the lower eyelid. |
| pain insensitivity | Inability to perceive painful stimuli. |
| congenital muscular dystrophy | A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. |
| esophagitis | |
| posterior fossa cyst | A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. |
| congenital finger flexion contractures | Multiple bent (flexed) finger joints that cannot be straightened actively or passively. |
| paroxysmal dystonia | A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. |
| short nasal septum | Reduced superior to inferior length of the nasal septum. |
| short distal phalanx of toe | Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. |
| ureteropelvic junction obstruction | Blockage of urine flow from the renal pelvis to the proximal ureter. |
| reticular hyperpigmentation | Increased pigmentation of the skin with a netlike (reticular) pattern. |
| delayed ossification of carpal bones | Ossification of carpal bones occurs later than age-adjusted norms. |
| hair-nail ectodermal dysplasia | |
| chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| short metacarpal | Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. |
| laryngeal cleft | Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. |
| prenatal movement abnormality | An abnormality of fetal movement. |
| aplasia/hypoplasia of the breasts | Absence or underdevelopment of the breasts. |
| eeg with spike-wave complexes | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| renal phosphate wasting | High urine phosphate in the presence of hypophosphatemia. |
| retinitis pigmentosa inversa | A variant of retinitis pigmentosa characterized by areas of choroidal degeneration with pigment migration and bony spicule formation in the macular area. In contrast to more typical forms of RP, this anomaly destroys central vision, leaving peripheral vision intact. |
| progressive macular scarring | |
| abnormality of the systemic arterial tree | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| cutis marmorata | A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather. |
| anorexia | A lack or loss of appetite for food (as a medical condition). |
| laryngeal dystonia | A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. |
| decreased number of peripheral myelinated nerve fibers | A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). |
| increased muscle lipid content | An abnormal accumulation of lipids in skeletal muscle. |
| abnormality of cells of the megakaryocyte lineage | Anomaly of megakaryocytes. |
| cervical segmentation defect | An abnormality related to a defect of vertebral separation of cervical vetebrae during development. |
| chorioretinal coloboma | Absence of a region of the retina, retinal pigment epithelium, and choroid. |
| hyperthreoninuria | An increased concentration of threonine in the urine. |
| abnormality of the globus pallidus | An abnormality of the globus pallidus. |
| reduced factor ix activity | Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. |
| mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| hypokalemic alkalosis | |
| brachycephaly | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| hamartomatous polyps | Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. |
| cleft secondary palate | |
| abnormal axonemal organization of respiratory motile cilia | 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. |
| cone-shaped epiphyses of the middle phalanges of the hand | |
| lower limb spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| heat intolerance | The inability to maintain a comfortably body temperature in warm or hot weather. |
| abnormality of superoxide metabolism | NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. |
| abnormality of polysaccharide metabolism | An abnormality of the metabolism of polysaccharide. |
| exotropia | |
| distal renal tubular acidosis | A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. |
| symphalangism affecting the proximal phalanx of the 5th finger | Fusion of the proximal phalanx of the 5th finger with another bone. |
| vertebral hypoplasia | Small, underdeveloped vertebral bodies. |
| bulging of the costochondral junction | Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. |
| foam cells with lamellar inclusion bodies | The presence of foam cells that contain lamellar inclusion bodies. |
| abnormality of the lumbar spine | An abnormality of the lumbar vertebral column. |
| sertoli cell neoplasm | The presence of a neoplasm of the testis with origin in a Sertoli cell. |
| nail bed telangiectasia | Telangiectases in the area of the nails. |
| nonepidermolytic palmoplantar keratoderma | A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. |
| macrocytic hemolytic disease | |
| vitreous hemorrhage | Bleeding within the vitreous compartment of the eye. |
| abnormality of macular pigmentation | Abnormality of macular or foveal pigmentation. |
| abnormality of the ribs | An anomaly of the rib. |
| limb-girdle muscle atrophy | Muscular atrophy affecting the muscles of the limb girdle. |
| palmar pits | |
| subcutaneous hemorrhage | This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). |
| large foramen magnum | An abnormal increase in the size of the foramen magnum. |
| diffuse axonal swelling | |
| overlapping toe | Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. |
| impaired proprioception | A loss or impairment of the sensation of the relative position of parts of the body and joint position. |
| valgus foot deformity | |
| abnormality of cerebrosidase metabolism | |
| 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. |
| genetic anticipation with paternal anticipation bias | A type of genetic anticipation observed predominantly upon transmission from affected males. |
| facial grimacing | |
| hypoplastic nipples | Underdevelopment of the nipple. |
| eye poking | Repetitive pressing, poking, and/or rubbing in the eyes. |
| isosexual precocious puberty | |
| embryonal neoplasm | A germ cell cancer that is associated with an embryo. |
| 1-5 finger syndactyly | Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). |
| hypolipidemia | |
| short distal phalanx of the 2nd finger | Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. |
| sex reversal | Development of the reproductive system is inconsistent with the chromosomal sex. |
| lacrimal duct atresia | A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. |
| female pseudohermaphroditism | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. |
| abnormality of carnitine metabolism | An abnormality of carnitine metabolism. |
| flared lower limb metaphysis | The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. |
| aniridia | OMIM mapping confirmed by DO. [SN]. |
| abnormality of the fibula | An anomaly of the calf bone (fibula), one of the two bones of the calf. |
| chronic pain | Persistent pain, usually defined as pain that has laster longer than 3 to 6 months. |
| abnormality of t cell number | A deviation from the normal count of T cells. |
| widely spaced teeth | Increased spaces (diastemata) between most of the teeth in the same dental arch. |
| prolonged qtc interval | |
| resistance to activated protein c | Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. |
| aplasia/hypoplasia involving the musculature of the extremities | |
| abnormality of the jejunum | An abnormality of the jejunum, i.e., of the middle section of the small intestine. |
| corneal neovascularization | |
| loss of facial adipose tissue | Loss of normal subcutaneous fat tissue in the face. |
| short long bone | One or more abnormally short long bone. |
| blepharochalasis | |
| shoulder muscle hypoplasia | Underdevelopment of muscles of the shoulder. |
| cone-shaped capital femoral epiphysis | A cone-shaped deformity of the proximal epiphysis of the femur. |
| atrioventricular canal 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. |
| hemimegalencephaly | Enlargement of all or parts of one cerebral hemisphere. |
| deformed sella turcica | |
| death in early adulthood | Death between the age of 16 and 40 years. |
| penile hypospadias | Location of the urethral opening on the inferior aspect of the penis. |
| abnormality of monocarboxylic acid metabolism | An abnormality of monocarboxylic acid metabolism. |
| increased serum ferritin | Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. |
| polysplenia | Polysplenia is a congenital disease manifested by multiple small accessory spleens. |
| type ii diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| broad secondary alveolar ridge | |
| episodes of ventricular tachycardia | |
| hyperchloremic acidosis | |
| edema of the lower limbs | An abnormal accumulation of fluid beneath the skin of the legs. |
| delayed calcaneal ossification | Delayed maturation and calcification of the calcaneus. |
| abnormality of the femoral head | An abnormality of the femoral head. |
| episodic metabolic acidosis | Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. |
| hypoplastic inferior pubic rami | |
| entropion | |
| desmoid tumors | Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. |
| fixed facial expression | |
| multiple lentigines | Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. |
| autoamputation (feet) | |
| aplasia/hypoplasia of the pubic bone | Absence or underdevelopment of the pubic bone. |
| malignant hyperthermia | A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. |
| hypoplasia of the pyramidal tract | |
| auditory auras | Auras with sensations of buzzing, drumming sounds or single tones. |
| fibrosarcoma | |
| brain very small | |
| abnormality of the pulmonary artery | An abnormality of the pulmonary artery. |
| shortening of all phalanges of fingers | Abnormal reduction in length affecting all phalanges. |
| testicular neoplasm | The presence of a neoplasm of the testis. |
| peripheral opacification of the cornea | Reduced transparency of the peripheral region of the cornea. |
| abnormality of the pubic bone | An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. |
| neoplasm of the colon | |
| pituitary prolactin cell adenoma | A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. |
| corneal dystrophy | |
| fulminant hepatic failure | Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. |
| prolonged brainstem auditory evoked potentials | |
| urethral atresia | Congenital anomaly characterized by closure or failure to develop an opening in the urethra. |
| upper airway obstruction | Increased resistance to the passage of air in the upper airway. |
| stroke | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| palpitations | A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. |
| gonosomal inheritance | A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. |
| thrombophlebitis | A phlebitis that results from a blood clot in the vessel. |
| follicular hyperplasia | Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. |
| abnormality of the duodenum | An abnormality of the duodenum, i.e., the first section of the small intestine. |
| esophageal stricture | A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. |
| postnatal microcephaly | Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development. |
| long philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| abnormality of the axillary hair | Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. |
| parathyroid carcinoma | An endocrine gland cancer located_in the parathyroid glands located in the neck. |
| adrenal insufficiency | Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. |
| premature pubarche | The onset of growth of pubic hair at an earlier age than normal. |
| split nail | A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. |
| truncal obesity | Obesity located preferentially in the trunk of the body as opposed to the extremities. |
| lower-limb metaphyseal irregularity | Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. |
| increased vertebral height | Increased top to bottom height of vertebral bodies. |
| aplasia involving bones of the extremities | |
| retrobulbar optic neuritis | Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. |
| abnormal foot bone ossification | An abnormality of the formation and mineralization of any bone of the skeleton of foot. |
| abnormality of the face | An abnormality of the face. |
| ovoid vertebral bodies | When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. |
| impaired epinephrine-induced platelet aggregation | Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. |
| decreased plasma free carnitine | A decreased concentration of free (unbound) carnitine in the blood. |
| tethered cord | During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. |
| cow milk allergy | Hypersensitivity in form of an adverse immune reaction against cow milk protein. |
| shell teeth | A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. |
| widened metacarpal shaft | |
| down-sloping shoulders | Low set, steeply sloping shoulders. |
| abnormality of the metencephalon | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| stippled calcification in carpal bones | Point-shaped (punctate) calcifications affecting the carpal bones. |
| obtuse angle of mandible | Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. |
| calcium nephrolithiasis | The presence of calcium-containing calculi (stones) in the kidneys. |
| 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. |
| peripheral visual field loss | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. |
| difficulty walking | Reduced ability to walk (ambulate). |
| embryonal renal neoplasm | The presence of an embryonal neoplasm of the kidney that primarily affects children. |
| acantholysis | The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. |
| paroxysmal dyskinesia | Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. |
| irregular sclerotic endplates | |
| contracture of the proximal interphalangeal joint of the 5th finger | Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. |
| abnormality of the external nose | An abnormality of the external nose. |
| interstitial pulmonary disease | |
| chronic hepatitis due to cryptospridium infection | |
| abnormality of digit | A morphological abnormality of a digit, i.e., of a finger or toe. |
| abnormality of the nasal alae | An abnormality of the Ala of nose. |
| decreased patellar reflex | Decreased intensity of the patellar reflex (also known as the knee jerk reflex). |
| subcutaneous lipoma | The presence of subcutaneous lipoma. |
| torsion dystonia | |
| abnormal shape of the radius | |
| hyperchloremic metabolic acidosis | |
| hypothalamic hypothyroidism | A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. |
| cardiorespiratory arrest | |
| weak cry | |
| elevated plasma citrulline | An increased concentration of citrulline in the blood. |
| breech presentation | A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. |
| pulmonary venoocclusive disease | OMIM mapping confirmed by DO. [SN]. |
| premature chromatid separation | The presence of premature sister chromatid segregation. |
| hypogammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| abnormality of the pons | An abnormality of the pons. |
| 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. |
| midline central nervous system lipomas | |
| thick nasal septum | Abnormally increased thickness of the nasal septum. |
| abnormality of the dura mater | An abnormality of the Dura mater. |
| abnormality of the hallux | This term applies for all abnormalities of the big toe, also called hallux. |
| aplasia/hypoplasia of the pancreas | A congential underdevelopment (aplasia or hypoplasia) of the pancreas. |
| abnormality of corneal stroma | An abnormality of the stroma of cornea, also known as the substantia propria of cornea. |
| 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 neutrophil cell number | A deviation from the normal range of neutrophil cell counts in the circulation. |
| abnormality of the epiphysis of the middle phalanx of the 2nd finger | |
| abnormality of the pupil | An abnormality of the pupil. |
| myalgia | A tendency to experience muscle pain. |
| incisional hernia | An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. |
| absence of stensen duct | |
| adult onset sensorineural hearing impairment | The presence of sensorineural deafness with late onset. |
| abnormal platelet count | Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. |
| decreased cranial base ossification | |
| forehead hyperpigmentation | |
| elevated alkaline phosphatase of bone origin | An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. |
| leiomyosarcoma | A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. |
| decreased pulmonary function | |
| abnormality of the cerebrospinal fluid | An abnormality of the cerebrospinal fluid (CSF). |
| behavioral abnormality | An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. |
| abnormal eye morphology | A structural anomaly of the eye. |
| vertebral wedging | An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. |
| abnormal cone-mediated electroretinogram | |
| abnormal basal ganglia mri signal intensity | A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. |
| hamartoma | A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. |
| mitral regurgitation | |
| autonomic erectile dysfunction | Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. |
| falls | |
| urinary retention | Inability to completely empty the urinary bladder during the process of urination. |
| depigmentation/hyperpigmentation of skin | |
| upper limb undergrowth | Arm shortening because of underdevelopment of one or more bones of the upper extremity. |
| hyporeflexia of lower limbs | Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. |
| 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. |
| abnormality of acid-base homeostasis | An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. |
| enlarged flash visual evoked potentials | |
| disorganization of the anterior cerebellar vermis | |
| deviated nasal septum | Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. |
| elevated maternal serum alpha-fetoprotein | An elevation of alpha-feto protein in the maternal serum. |
| abnormal sensory nerve conduction velocity | |
| muscle cramps | Sudden and involuntary contractions of one or more muscles. |
| ovotestis | A hermaphrodite gonad (as in some scale insects). |
| elevated sweat chloride | An increased concentration of chloride in the sweat. |
| low hanging columella | Columella extending inferior to the level of the nasal base, when viewed from the side. |
| prostate neoplasm | A male reproductive organ cancer that is located_in the prostate. |
| pulmonary aterial intimal fibrosis | Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. |
| cavernous hemangioma | |
| abnormality of the vasculature of the eye | |
| cerebral hypoplasia | Underdevelopment of the cerebrum. |
| abnormality of the glomerulus | A structural anomaly of the glomerulus. |
| prominent nipples | |
| abnormal muscle glycogen content | Any anomaly in the amount of glycogen in muscle tissue. |
| diffuse leiomyomatosis | |
| intramuscular hematoma | Blood clot formed within muscle tissue following leakage of blood into the tissue. |
| toenail dysplasia | An abnormality of the development of the toenails. |
| variable expressivity | A variable severity of phenotypic features. |
| urinary bladder sphincter dysfunction | Abnormal function of a sphincter of the urinary bladder. |
| broad femoral metaphyses | |
| proximal muscle weakness in upper limbs | A lack of strength of the proximal muscles of the arms. |
| myotonia with warm-up phenomenon | Myotonia that occurs after a period of rest and decreases with continuing exercise. |
| rimmed vacuoles | Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. |
| medial rotation of the medial malleolus | |
| short sternum | Decreased inferosuperior length of the sternum. |
| gustatory lacrimation | Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. |
| abnormality of natural killer cells | An anomaly of the natural killer cell, which is a lymphocyte 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. |
| renal dysplasia | Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. |
| abnormal appendicular skeleton morphology | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| nephritis | |
| elevated urinary catecholamines | An increased concentration of catecholamine in the urine. |
| fusion of midphalangeal joints | |
| frontotemporal dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| abnormality of the arachnoid mater | An abnormality of the Arachnoid mater. |
| absence of acoustic reflex | Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. |
| antenatal intracerebral hemorrhage | Cerebral hemorrhage that occurs before birth. |
| sclerosis of hand bone | Osteosclerosis affecting one or more bones of the hand. |
| absent frontal sinuses | Aplasia of frontal sinus. |
| thyroid agenesis | The congenital absence of the thyroid gland. |
| generalized clonic seizures | Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec. |
| abnormality of the gastrointestinal tract | |
| neoplasm by histology | Neoplasm categorized according to type of histological abnormality. |
| ketosis | Presence of elevated levels of ketone bodies in the body. |
| abnormality of the auditory canal | An abnormality of the External acoustic tube (also known as the auditory canal). |
| calcification of ribs | |
| progressive ptosis | A progressive form of ptosis. |
| coma | Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. |
| renal tubular dysfunction | |
| hypoplasia of the cochlea | Developmental hypoplasia of the cochlea. |
| abnormality of the cell cycle | An abnormality of the cell cycle. |
| anterior segment dysgenesis | Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. |
| abnormality of the trachea | |
| abnormality of skin physiology | Any abnormality of the physiological function of the skin. |
| subcortical white matter calcifications | |
| adrenal pheochromocytoma | Pheochromocytoma originating from the adrenal medulla. |
| prominent supraorbital arches in adult | |
| cns infection | |
| ventilator dependence with inability to wean | |
| hypofibrinogenemia | Decreased concentration of fibrinogen in the blood. |
| neoplasm of the thyroid gland | A tumor (abnormal growth of tissue) of the thyroid gland. |
| calcific stippling | An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). |
| intellectual disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| immunodeficiency | |
| deviation of the 5th toe | |
| ovarian cyst | Ovarian cysts are small fluid-filled sacs that develop in a woman's ovaries. |
| steppage gait | An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. |
| short 4th finger | Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. |
| enlargement of the proximal femoral epiphysis | An abnormal enlargement of the proximal epiphysis of the femur. |
| progressive calcification of costochondral cartilage | |
| 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. |
| intraalveolar nodular calcifications | |
| lumbosacral meningocele | |
| obstructive lung disease | |
| hernia | |
| pulmonary artery atresia | A congenital anomaly with e narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. |
| hypoplasia of the fovea | Underdevelopment of the fovea centralis. |
| shallow anterior chamber | Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. |
| periodic paralysis | Episodes of muscle weakness. |
| anterior pituitary dysgenesis | Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. |
| 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. |
| abnormality of the antihelix | An abnormality of the antihelix. |
| corneal degeneration | |
| mixed hypo- and hyperpigmentation of the skin | |
| 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. |
| irregular iliac crest | Irregularity of the iliac crest, which is the superior border of the wing of the ilium. |
| venous abnormality | An anomaly of vein. |
| agenesis of pulmonary vessels | |
| abnormally shaped carpal bones | |
| abnormal hand bone ossification | An abnormality of the formation and mineralization of any bone of the skeleton of hand. |
| shoulder dislocation | A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. |
| giant melanosomes in melanocytes | The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. |
| abnormality of lysosomal metabolism | A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. |
| vesicoureteral reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| recurrent viral infections | Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. |
| agenesis of mandibular incisor | |
| high anterior hairline | Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. |
| exstrophy | Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. |
| abnormality of intracranial pressure | A deviation from the norm of the intracranial pressure. |
| babinski sign | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| wide nasal bridge | Increased breadth of the nasal bridge (and with it, the nasal root). |
| episodic abdominal pain | An intermittent form of abdominal pain. |
| metaphyseal widening | Abnormal widening of the metaphyseal regions of long bones. |
| large forehead | |
| congenital giant melanocytic nevus | The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. |
| x-linked inheritance | A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. |
| optic nerve hypoplasia | Underdevelopment of the optic nerve. |
| perimembranous ventricular septal defect | A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. |
| abnormality of the kidney | An abnormality of the kidney. |
| thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| hypophosphatemic rickets | |
| fibrous syngnathia | Complete or nearly complete soft tissue fusion of the alveolar ridges. |
| hypothalamic hamartoma | The presence of a hamartoma of the hypothalamus. |
| esophageal stenosis | An abnormal narrowing of the lumen of the esophagus. |
| intussusception | OMIM mapping confirmed by DO. [SN]. |
| abnormal number of erythroid precursors | A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. |
| abnormality of the esophagus | An abnormality of the esophagus. |
| testicular atrophy | Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. |
| abnormality of phenylalanine metabolism | An abnormality of L-phenylalanine metabolic process. |
| dacrocystitis | Inflammation of the nasolacrimal sac. |
| intracranial hemorrhage | Hemorrhage occurring within the skull. |
| shoulder girdle muscle atrophy | Amyotrophy affecting the muscles of the shoulder girdle. |
| hyperlysinuria | An increased concentration of lysine in the blood. |
| aplasia/hypoplasia of the cervical spine | Aplasia or developmental hypoplasia of the cervical vertebral column. |
| malar flattening | Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation. |
| high pitched voice | An abnormal increase in the pitch (frequency) of the voice. |
| congenital strabismus | |
| patchy variation in bone mineral density | Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. |
| halberd-shaped pelvis | |
| abnormality of methionine metabolism | An abnormality of methionine metabolic process. |
| j wave | The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. |
| pituitary adenoma | |
| abnormality of neural tube closure | |
| congenital hypoplastic anemia | |
| clitoral hypertrophy | Hypertrophy of the clitoris. |
| aplasia/hypoplasia of the cerebellum | |
| cutaneous photosensitivity | An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. |
| hump-shaped mound of bone in central and posterior portions of vertebral endplate | |
| obsessive-compulsive behavior | |
| open mouth | A facial appearance characterized by a permanently or nearly permanently opened mouth. |
| cachexia | Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. |
| episodic hemiplegia | Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. |
| increased csf interferon alpha | Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). |
| gowers sign | A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. |
| 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. |
| neuroendocrine neoplasm | An endocrine gland cancer that has_material_basis_in neuroendocrine cells. |
| multicentric femoral head ossification | There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. |
| priapism | A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. |
| glomerulopathy | Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. |
| concentric hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. |
| caudal interpedicular narrowing | Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. |
| abnormal respiratory motile cilium physiology | Any functional anomaly of the respiratory motile cilia. |
| contractures involving the joints of the feet | |
| periorbital wrinkles | |
| 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. |
| platyspondyly (childhood) | |
| abnormality of the superior cerebellar peduncle | An anomaly of the superior cerebellar peduncle. |
| recurrent sinusitis | A recurrent form of sinusitis. |
| midline defect of the nose | This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. |
| diaphyseal dysplasia | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
| t-cell acute lymphoblastic leukemias | |
| preaxial hand polydactyly | Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. |
| lens luxation | Complete dislocation of the lens of the eye. |
| thick nail | Nail that appears thick when viewed on end. |
| diaphyseal thickening | |
| secretory diarrhea | Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. |
| beaded ribs | The presence of a row of beadlike prominences at the junction of a rib and its cartilage. |
| triangular shaped proximal phalanx of the 2nd finger | Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. |
| tracheobronchomalacia | Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. |
| aplasia/hypoplasia involving the carpal bones | Absence or underdevelopment of the carpal bones. |
| anterior rib punctate calcifications | Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. |
| fifth metacarpal with ulnar notch | Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). |
| poor eye contact | Difficulty in looking at another person in the eye. |
| abnormality of ocular smooth pursuit | An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. |
| pachygyria | A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. |
| abnormality of the fingertips | |
| irregular hyperpigmentation | |
| accessory oral frenulum | Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. |
| increased erythrocyte protoporphyrin concentration | An increased concentration of protoporphyrins in erythrocytes. |
| impairment of galactose metabolism | An impairment of galactose metabolism. |
| generalized muscular appearance from birth | |
| hypoplastic helices | Underdevelopment of the helix, i.e., of the outer rim of the pinna. |
| malar prominence | Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. |
| reduced factor xi activity | |
| muscle stiffness | A condition in which muscles cannot be moved quickly without accompanying pain or spasm. |
| subperiosteal erosions due to secondary hyperparathyroidism | |
| reduced systolic function | |
| 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. |
| hemihypertrophy | Overgrowth of only one side of the body. |
| tachycardia (with pheochromocytoma) | |
| abnormality of tibial epiphyses | |
| folate-unresponsive megaloblastic anemia | A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. |
| bilateral basal ganglia lesions | |
| soft, doughy skin | |
| hypersegmentation of proximal phalanx of third finger | Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. |
| abnormal urine magnesium concentration | An abnormal concentration of magnesium the urine. |
| markedly reduced t cell function | |
| anomaly of the limb diaphyses | A structural abnormality of a diaphysis of the arm or leg. |
| adrenal hypoplasia | Developmental hypoplasia of the adrenal glands. |
| neoplasm of the parathyroid gland | A tumor (abnormal growth of tissue) of the parathyroid gland. |
| hemifacial hypoplasia | Unilateral underdevelopment of the facial tissues, including muscles and bones. |
| hyperinsulinemia | |
| 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. |
| otitis media | A otitis which involves inflammation of the middle ear. |
| aneurysm of an abdominal artery | Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta. |
| downslanted palpebral fissures | The palpebral fissure inclination is more than two standard deviations below the mean. |
| abnormality of circulating glucocorticoid level | An abnormality of the concentration of a glucocorticoid in the blood. |
| aplasia/hypoplasia of the phalanges of the toes | |
| increased proportion of hla dr+ and cd57+ t cells | |
| all | Root of all terms in the Human Phenotype Ontology. |
| abnormal rapid eye movement (rem) sleep | Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. |
| dumbbell-shaped femur | The femur is shortened and displays flaring (widening) of the metaphyses. |
| regional abnormality of skin | An abnormality of the skin that is restricted to a particular body region. |
| social and occupational deterioration | |
| increased susceptibility to fractures | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| abnormality of serine family amino acid metabolism | An abnormality of a serine family amino acid metabolic process. |
| abnormal nerve conduction velocity | |
| abnormality of the upper urinary tract | An abnormality of the upper urinary tract. |
| transient neonatal diabetes mellitus | A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. |
| high forehead | An abnormally increased height of the forehead. |
| anterior pituitary agenesis | Absence of the pituitary gland resulting from a developmental defect. |
| polyphagia | A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. |
| nephrosclerosis | |
| poikilocytosis | The presence of abnormally shaped erythrocytes. |
| short stepped shuffling gait | |
| cone monochromacy | The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. |
| hypoplasia of dental enamel | Developmental hypoplasia of the dental enamel. |
| thoracic kyphosis | Over curvature of the thoracic region, leading to a round back or if sever to a hump. |
| sacral meningocele | |
| abnormality of the humeroradial joint | |
| primary atrial arrhythmia | A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. |
| decreased glomerular filtration rate | An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. |
| hypertrophic auricular cartilage | |
| y-linked inheritance | A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. |
| cerebral inclusion bodies | Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. |
| abnormality of the sella turcica | Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. |
| localized hirsutism | Abnormally increased hair growth with a localized distribution. |
| short distal phalanx of the 4th finger | Hypoplastic/small distal phalanx of the fourth finger. |
| recurrent bacterial skin infections | Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. |
| peripheral demyelination | A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. |
| pleuritis | |
| finger joint hyperextensibility | |
| predominantly lower limb lymphedema | Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. |
| septo-optic dysplasia | Underdevelopment of the optic nerve and absence of the septum pellucidum. |
| distal sensory impairment | An abnormal reduction in sensation in the distal portions of the extremities. |
| 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). |
| amyotrophy of ankle musculature | Atrophy of the muscles of the ankle. |
| skin fragility with non-scarring blistering | |
| progressive cervical vertebral spine fusion | |
| spinal cord lesions | |
| chromsome breakage | |
| prominent forehead | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| duplication of the distal phalanx of the 2nd finger | Partial or complete duplication of the distal phalanx of index finger. |
| bidirectional ventricular ectopy | |
| macular scarring | |
| rod monochromacy | A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. |
| progressive conductive hearing impairment | A progressive type of conductive deafness. |
| selective tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| intestinal fistula | An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. |
| abnormality of the urethra | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| central hypoventilation | |
| abnormality of the pylorus | An abnormality of the pylorus. |
| ectopic posterior pituitary | An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. |
| aplasia involving forearm bones | |
| 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) |
| clinical modifier | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| elevated urine pyrophosphate | An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. |
| hemiplegia/hemiparesis | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. |
| hyphema | Bleeding in the anterior chamber of the eye. |
| chronic hemolytic anemia | An chronic form of hemolytic anemia. |
| equinus calcaneus | Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. |
| decreased taste sensation | |
| partial albinism | Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. |
| keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| progressive distal muscle weakness | Progressively reduced strength of the distal musculature. |
| breast aplasia | Failure to develop and congenital absence of the breast. |
| hypomineralization of enamel | A decreased amount of enamel mineralization. |
| retrognathia | An abnormality in which the mandible is mislocalised posteriorly. |
| aldehyde oxidase deficiency | A reduction in aldehyde oxidase activity. |
| generalized joint laxity | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. |
| enlarged epiphysis of the proximal phalanx of the 2nd finger | |
| abnormality of the proximal phalanx of the thumb | In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| narrow mouth | Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). |
| amyotrophy involving the shoulder musculature | |
| colon cancer | A colorectal cancer that is located_in the colon. |
| stippled calcification of the humeral epiphyses | |
| cone-shaped metacarpal epiphyses | A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. |
| retinal coloboma | A notch or cleft of the retina. |
| abnormality of ornithine metabolism | Abnormality of a metabolism or concentration of ornithine. |
| abnormality of the parathyroid morphology | A structural abnormality of the parathyroid gland. |
| exostosis of the external auditory canal | A benign bony growth projecting outward from a bone surface within the external auditory canal. |
| polygenic inheritance | A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. |
| tapered distal phalanges of finger | A reduction in diameter of the distal phalanx of finger towards the distal end. |
| short tibia | Underdevelopment (reduced size) of the tibia. |
| osteosarcoma | A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| cervical spine hypermobility | |
| systemic lupus erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| diaphyseal sclerosis | An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| submucous cleft hard palate | Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. |
| chorea | A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| enlarged interphalangeal joints | |
| chorioretinal hypopigmentation or hyperpigmentation | |
| hypoplastic facial bones | |
| abnormality of hair density | An abnormality of the density of hair growth. |
| hypopigmentation of the fundus | Decreased amount of pigmentation of the retina. |
| streaks of hyperkeratosis along each finger onto the palm | |
| loss of gluteal subcutaneous adipose tissue | Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. |
| degeneration of the lateral corticospinal tracts | Deterioration of the tissues of the lateral corticospinal tracts. |
| aplasia/hypoplasia of the lens | Absence or underdevelopment of the lens. |
| aplasia of the inner ear | Absence of the inner ear due to a developmental defect. |
| abnormality of the cerebral white matter | An abnormality of the cerebral white matter. |
| right aortic arch with mirror image branching | The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. |
| retinal exudate | Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. |
| abnormality of the endocardium | An abnormality of the endocardium. |
| pyelonephritis | |
| ectopic ossification | Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. |
| 1-5 finger complete cutaneous syndactyly | |
| abnormality of skeletal physiology | An abnormality of the function of the skeletal system. |
| anterior pituitary hypoplasia | Underdevelopment of the anterior pituitary gland. |
| bullet-shaped middle phalanges of the hand | Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. |
| conspicuously happy disposition | An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. |
| abnormality of phalangeal joints of the hand | |
| distal peripheral sensory neuropathy | Peripheral sensory neuropathy affecting primarily distal sensation. |
| renal hamartoma | A disordered proliferation of mature tissues that are native to the kidneys. |
| osteoporosis of vertebrae | Osteoporosis affecting predominantly the vertebrae. |
| malignant eosinophil proliferation | |
| retinal hamartoma | A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. |
| teleangiectasia of the skin | Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. |
| abnormality of the musculature of the neck | An abnormality of the neck musculature. |
| acute lymphatic leukemia | |
| enlarged epiphyses of the 3rd finger | Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. |
| prematurely aged appearance | |
| arterial thrombosis | The formation of a blood clot inside an artery. |
| hyperextensibility of the finger joints | The ability of the finger joints to move beyond their normal range of motion. |
| aplasia/hypoplasia of the external ear | The presence of aplasia or developmental hypoplasia of all or part of the external ear. |
| angioid streaks of the retina | |
| synostosis of metacarpals/metatarsals | |
| abnormality of the midface | An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma. Traditionally, the nose and premaxilla are not included in the midface. |
| abnormality of chromosome stability | A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. |
| arteriovenous malformation | An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. |
| hemothorax | The presence of blood in the pleural space. |
| 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. |
| hyperbilirubinemia | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| pseudoepiphyses | |
| hyperostosis cranialis interna | Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. |
| constricted iliac wings | |
| chronic myelogenous leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| tracheoesophageal fistula | An abnormal connection (fistula) between the esophagus and the trachea. |
| abnormality of the cardiac septa | |
| abnormal ekg | |
| normocytic anemia | |
| pansynostosis | Craniosynostosis of all calvarial sutures. |
| pneumothorax | |
| propionyl-coa carboxylase deficiency | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| b lymphocytopenia | An abnormal decrease from the normal count of B cells. |
| symmetric peripheral demyelination | A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. |
| hypoplastic iliac wing | Underdevelopment of the ilium ala. |
| clusters of axonal regeneration | Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. |
| abnormality of limb epiphysis morphology | An anomaly of one or more epiphyses of a limb. |
| decreased beta-glucocerebrosidase protein and activity | An enzyme that hydrolyzes beta-glucosides in cerebrosides. |
| abnormality of the clavicle | Any abnormality of the clavicles (collar bones). |
| renal cyst | |
| epidermal thickening | Thickening of the epidermal layer of the skin. |
| complete duplication of distal phalanx of the thumb | Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. |
| abnormality of the coronary arteries | An abnormality of the coronary arteries. |
| lipoatrophy | Localized loss of fat tissue. |
| choroid plexus calcification | The presence of calcium deposition in the choroid plexus. |
| pigmented paravenous chorioretinal atrophy | Bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins. |
| oncocytic cardiomyopathy | |
| abnormally lax or hyperextensible skin | |
| short 2nd finger | Hypoplasia of the second finger, also known as the index finger. |
| nephrocalcinosis | |
| neoplasm of the peripheral nervous system | A benign or malignant neoplasm (tumour) of the peripheral nervous system. |
| headache | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| abnormal levels of creatine kinase in blood | |
| mechanical ileus | |
| aplasia/hypoplasia involving the shoulder musculature | Absence or underdevelopment of the muscles of the shoulder. |
| phimosis | |
| increased urinary hypoxanthine | An increased level of hypoxanthine in the urine. |
| congenital glaucoma | |
| aplasia of the phalanges of the hand | Absence of one or more of the phalanges of the hand. |
| painless fractures due to injury | An increased tendency to fractures following trauma, with fractures occurring without pain. |
| aglossia | Absence of the tongue owing to a developmental abnormality. |
| high-grade hypermetropia | A severe form of hypermetropia with over +4.00 diopters. |
| hyperprolinemia | An increased concentration of proline in the blood. |
| hypoplasia of the frontal lobes | Underdevelopment of the frontal lobe of the cerebrum. |
| scrotal hypoplasia | |
| abnormal ejaculation | Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. |
| hypoplastic scapulae | Underdeveloped scapula. |
| abnormal aggressive, impulsive or violent behavior | |
| aplasia/hypoplasia of the middle phalanx of the 2nd finger | |
| gait imbalance | |
| metacarpophalangeal joint hyperextensibility | Increased mobility of one ore more metacarpophalangeal joint. |
| abnormality of the teeth | Any abnormality of the teeth. |
| increase in b cell number | An abnormal increase from the normal count of B cells. |
| abnormality of the oral cavity | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| partial duplication of the phalanx of hand | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| abnormality of cholesterol metabolism | |
| increased prevalence of valvular disease | |
| renal cortical atrophy | Atrophy of the cortex of the kidney. |
| facial hyperostosis | Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. |
| protracted diarrhea | |
| abnormality of krebs cycle metabolism | An abnormality of the tricarboxylic acid cycle. |
| abnormality of the pancreas | An abnormality of the pancreas. |
| short 4th metacarpal | Short fourth metacarpal bone. |
| keratoconjunctivitis sicca | |
| conical tooth | An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. |
| abnormality of vertebral epiphysis morphology | An anomaly of one or more epiphyses of one or more vertebrae. |
| abnormality of the vertebrae | An abnormality of one or more of the vertebrae. |
| osteolytic defects of the phalanges of the toes | |
| abnormal motor neuron morphology | Any structural anomal that affects the motor neuron. |
| flared metaphysis | The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. |
| hypoplasia of the radius | Underdevelopment of the radius. |
| neonatal short-limb short stature | A type of short-limbed dwarfism that is manifest beginning in the neonatal period. |
| narrow nose | Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. |
| nonketotic hyperglycinemia | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| laryngeal stenosis | Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. |
| mesenteric artery aneurysm | Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . |
| decreased motor nerve conduction velocity | A type of decreased nerve conduction velocity that affects the motor neuron. |
| proximal lower limb amyotrophy | Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. |
| optic glioma | A glioma originating in the optic nerve or optic chiasm. |
| akinesia | Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. |
| primitive reflexes (palmomental, snout, glabellar) | |
| primary hypercorticolism | Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. |
| cystic retinal degeneration | |
| abnormal urinary electrolyte concentration | |
| abnormal finger flexion creases | |
| adducted thumb | In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. |
| coronal hypospadias | A mild form of hypospadias in which the urethra opens just under the corona glandis. |
| pathologic fracture | A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. |
| sclerosis of finger phalanx | An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| diffuse spongiform leukoencephalopathy | |
| meningeal calcification | Calcium deposition affecting the Meninges. |
| cellular immunodeficiency | |
| abnormal metaphyseal trabeculation | An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. |
| depressed nasal tip | Decreased distance from the nasal tip to the nasal base. |
| abnormality of the distal phalanx of finger | Any anomaly of distal phalanx of finger. |
| ureteral stenosis | The presence of a stenotic, i.e., constricted ureter. |
| chewing difficulties | |
| conjunctival hamartoma | A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. |
| neurofibrillary tangles | Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. |
| delayed cns myelination | Delayed myelination in the central nervous system. |
| severe limb shortening | |
| abnormal umbilical cord blood vessels | |
| widely patent sagittal suture | The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. |
| thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| epiphyseal stippling | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012). |
| hypoplasia of the capital femoral epiphysis | Underdevelopment of the proximal epiphysis of the femur. |
| amaurosis fugax | A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. |
| infantile spasms | Infantile spasms represent a subset of epileptic spasms. Infantile Spasms are epileptic spasms starting in the first year of life (infancy). |
| abnormality of the subarachnoid space | Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. |
| recurrent serratia marcescens infections | Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. |
| gonadoblastoma | A cell type benign neoplasm that is composed_of a mixture of gonadal elements. |
| cranial asymmetry | Asymmetry of the bones of the skull. |
| anterior radial head dislocation | A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. |
| central nervous system degeneration | |
| myxoid liposarcoma | OMIM mapping confirmed by DO. [SN]. |
| aplasia cutis congenita over parietal area | A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. |
| arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| bone marrow hypocellularity | A reduced number of hematopoietic cells present in the bone marrow. |
| choroid plexus papilloma | OMIM mapping confirmed by DO. [SN]. |
| respiratory arrest | |
| congenital bullous ichthyosiform erythroderma | |
| peroneal muscle atrophy | Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus)' (FMA:22539), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius. |
| intervertebral disc degeneration | The presence of degenerative changes of intervertebral disk. |
| trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| extramedullary hematopoiesis | The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. |
| rapidly progressive | |
| asymmetric, linear skin defects | |
| optic neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. |
| acroosteolysis of distal phalanges (feet) | |
| abnormality of the globe | An anomaly of the eyeball. |
| abnormal head movements | |
| abnormality of calcium-phosphate metabolism | |
| 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. |
| psychotic episodes | |
| impaired platelet aggregation | An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. |
| abnormality of lymphocytes | An abnormality of lymphocytes. |
| fluctuating splenomegaly | Intermittently increased size of the spleen. |
| abnormality of the humeral heads | |
| ureteral obstruction | |
| atrophy of the spinal cord | |
| severe short stature | A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. |
| open operculum | Underdevelopment of the operculum. |
| abnormality of the abdominal organs | An abnormality of the viscera of the abdomen. |
| agenesis of the diaphragm | Congenital lack, i.e., aplasia of the diaphragm. |
| prolonged bleeding time | Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. |
| degeneration of anterior horn cells | |
| lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| complete atrioventricular canal defect | A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. |
| atrial flutter | A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. |
| melanocytic nevus | A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. |
| acquired abnormal hair pattern | An abnormality of the distribution of hair growth that is acquired during the course of life. |
| duodenal stenosis | The narrowing or partial blockage of a portion of the duodenum. |
| membranous nephropathy | |
| glycosuria | An increased concentration of glucose in the urine. |
| pancreatic calcification | The presence of abnormal calcium deposition lesions in the pancreas. |
| aplasia/hypoplasia of the vertebrae | |
| abnormality of the epiphysis of the proximal phalanx of the 2nd finger | |
| aplasia involving bones of the upper limbs | |
| recurrent streptococcus pneumoniae infections | Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. |
| large for gestational age | The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. |
| abnormality of vitamin b metabolism | |
| synovial sarcoma | A synovium cancer which develops in the synovial membrane of the joints. |
| abnormality of the ilium | An abnormality of the ilium, the largest and uppermost bone of the pelvis. |
| premature delivery because of cervical insufficiency or membrane fragility | |
| anhidrosis | OMIM mapping confirmed by DO. [SN]. |
| abnormality of the vitamin b12 metabolism | |
| hypercortisolism | |
| positive romberg sign | The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. |
| prolonged neonatal jaundice | |
| macule | A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. |
| steatocystoma multiplex | Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). |
| impairment of fructose metabolism | An impairment of a fructose metabolic process. |
| thickened skin | Laminar thickening of skin. |
| abnormality of peripheral nerve conduction | An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). |
| lip pit | A depression located on a lip. |
| hypoplastic nasal bridge | |
| red-green dyschromatopsia | Difficulty with discriminating red and green hues. |
| long-chain dicarboxylic aciduria | |
| premature occlusive vascular disease | |
| leukonychia | White discoloration of the nails. |
| megalocornea | A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene. |
| contractures of the joints of the upper limbs | |
| piebaldism | OMIM mapping confirmed by DO. [SN]. |
| tetany | A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. |
| epidermal hyperkeratosis | |
| acute episodes of neuropathic symptoms | Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). |
| abnormality of corneal thickness | An abnormal anteroposterior thickness of the cornea. |
| 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. |
| broad phalanx | Increased side-to-side width of one or more phalanges of the fingers or toes. |
| abnormality of limb bone morphology | Any abnormality of bones of the arms or legs. |
| absent vestibular function | Complete lack of functioning of the vestibular apparatus. |
| epidermal nevus | Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. |
| ridged nail | Longitudinal, linear prominences in the nail plate. |
| gonadal neoplasm | A tumor (abnormal growth of tissue) of a gonad. |
| small face | A face that is short (HP:0011219) and narrow (HP:0000275). |
| triangular epiphysis of the middle phalanx of the 3rd finger | A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. |
| posterior rib cupping | Wide, concave posterior rib end. |
| decreased amplitude of sensory action potentials | A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. |
| abnormality of the cerebellar vermis | An anomaly of the vermis of cerebellum. |
| 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). |
| prominent frontal sinuses | |
| dissecting aortic aneurysm | |
| distal tibial bowing | A bending or abnormal curvature of the distal portion of the tibia. |
| prominent occiput | Increased convexity of the occiput (posterior part of the skull). |
| hepatocellular adenoma | A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. |
| polydactyly affecting the 3rd finger | |
| peripheral vascular insufficiency | |
| persistent hyperplastic primary vitreous | NT MGI. |
| aciduria | Ecretion of urine with an acid pH. |
| genital ulcers | |
| severe periodontitis | A severe form of periodontitis. |
| hypergonadotropic hypogonadism | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| effort-induced polymorphic ventricular tachycardias | |
| focal dystonia | A dystonia that is localized to a specific part of the body. |
| abnormality of the skull | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| protrusio acetabuli | Intrapelvic bulging of the medial acetabular wall. |
| paradoxical myotonia | A type of myotonia that worsens with repeated muscle contractions. |
| abnormality of circulating catecholamine level | An abnormal catecholamine concentration in the blood. |
| panniculitis | |
| aged leonine appearance | |
| paradoxical increased cortisol secretion on dexamethasone suppression test | |
| narrow palate | Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). |
| myelodysplasia | |
| hepatoblastoma | |
| aplasia/hypoplasia involving the musculature of the upper limbs | Absence or underdevelopment of the musculature of the upper limbs. |
| intestinal hypoplasia | Developmental hypoplasia of the intestine. |
| slit-like opening of the exterior auditory meatus | A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. |
| thin glomerular basement membrane | Reduction in thickness of the basal lamina of the glomerulus of the kidney. |
| increased total bilirubin | Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. |
| abnormality of the metopic suture | The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a metopic suture. |
| progressive leukoencephalopathy | Leukoencephalopathy that gets more severe with time. |
| acholic stools | Clay colored stools lacking bile pigment. |
| deficiency of n-acetylglucosamine-1-phosphotransferase | N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. |
| glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| absent skin pigmentation | Lack of skin pigmentation (coloring). |
| paronychia | Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. |
| mitral valve calcification | Abnormal calcification of the mitral valve. |
| gingival bleeding | Hemorrhage affecting the gingiva. |
| postprandial hyperglycemia | An increased concentration of glucose in the blood following a meal. |
| chorioretinal atrophy | Atrophy of the choroid and retinal layers of the fundus. |
| foveal hyperpigmentation | Increased amount of pigmentation in the fovea centralis. |
| urinary bladder inflammation | Inflammation of the urinary bladder. |
| plethora | Related to polycythemia. |
| abnormality of the zygomatic bone | An abnormality of the zygomatic bone. |
| spontaneous hemolytic crises | |
| cerebellar malformation | |
| neoplasm of the stomach | A tumor (abnormal growth of tissue) of the stomach. |
| lower lip pit | Depression located on the vermilion of the lower lip, usually paramedian. |
| abnormality of the epiphyses of the hand | Any abnormality of the epiphyses of the phalanges or metacarpal bones. |
| downbeat nystagmus | Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. |
| pseudobulbar behavioral symptoms | Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. |
| abnormality of monovalent inorganic cation homeostasis | An abnormality of monovalent inorganic cation homeostasis. |
| long eyelashes in irregular rows | |
| orthostatic hypotension | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| diffuse telangiectasia | Telangiectases (small dilated blood vessels) with a diffuse localization. |
| juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| abnormality of macrophages | An abnormality of macrophages. |
| limb-girdle muscle weakness | Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. |
| ventricular aneurysm | A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. |
| abnormality of male external genitalia | An abnormality of male external genitalia. |
| 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. |
| horizontal ribs | A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. |
| abnormal facility in opposing the shoulders | |
| polymicrogyria | A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. |
| vitreoretinal abnormalities | |
| constricted visual fields | |
| broad ribs | Increased width of ribs. |
| recurrent neisserial infections | Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). |
| broad skull | Increased width of the skull. |
| pancreatic islet cell adenoma | The presence of an adenoma of the pancreas with origin in a pancreatic B cell. |
| abnormality of the 5th metacarpal | Any abnormality of the fifth metacarpal bone. |
| progeroid facial appearance | A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. |
| abnormal migration of corneal endothelium | Abnormal migration of corneal endothelium. |
| 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. |
| progressive retinal degeneration | |
| neoplasm of the adrenal gland | A tumor (abnormal growth of tissue) of the adrenal gland. |
| parathyroid dysgenesis | Abnormal embryonic development of the parathyroid gland. |
| triphalangeal thumb | A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. |
| distal urethral duplication | |
| defective dehydrogenation of isovaleryl coa and butyryl coa | Isovaleryl CoA is an intermediate product in the catabolism of leucine. Butyryl CoA is an intermediate in fatty acid degradation and in biosynthesis. |
| acute myelomonocytic leukemia | A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. |
| abnormality of the nephron | A structural anomaly of the nephron. |
| glomus tympanicum paraganglioma | |
| renal cortical cysts | Cysts of the cortex of the kidney. |
| hypoplasia of the fallopian tube | Developmental hypoplasia of the fallopian tube. |
| syringomyelia | |
| amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| mitten deformity | Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a mitten hand deformity. |
| retinal vascular proliferation | |
| broad neck | Increased side-to-side width of the neck. |
| neoplasm of the central nervous system | A neoplasm of the central nervous system. |
| radial club hand | Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. |
| conjunctival telangiectasia | The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. |
| wolff-parkinson-white syndrome | A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. |
| scheuermann-like vertebral changes | |
| symmetric lesions of the basal ganglia | |
| lower limb asymmetry | A difference in length or diameter between the left and right leg. |
| severe postnatal growth retardation | Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. |
| anomalous tracheal cartilage | |
| renal sodium wasting | An abnormally increased sodium concentration in the urine in the presence of hyponatremia. |
| distal sensory loss of all modalities | |
| abnormality of salivation | |
| abnormality of the palpebral fissures | An anomaly of the space between the medial and lateral canthi of the two open eyelids. |
| hyperthreoninemia | An increased concentration of threonine in the blood. |
| head titubation | A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. |
| inguinal freckling | The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| broad toe | Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. |
| motor polyneuropathy | |
| short tubular bones (hand) | |
| handgrip myotonia | Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. |
| cervical ribs | A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. |
| pelvic exostoses | A benign growth the projects outward from the bone surface of the pelvis. Exostoses are cappped by cartilage, and arise from a bone that develops from cartilage. |
| abnormality of the cranial nerves | |
| diffuse glomerular basement membrane lamellation | Presence of abnormal additional layers of the basement membrane of the glomerulus. |
| abnormal gallbladder physiology | A functional anomaly of the gallbladder. |
| prominent scrotal raphe | Increased size of the ridge of tissue that extends along the midline of the scrotum. |
| thyroid hyperplasia | Hyperplasia of the thyroid gland. |
| pseudoepiphyses of the phalanges of the hand | A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. |
| concave nail | The natural longitudinal (posterodistal) convex arch is not present or is inverted. |
| lymphedema | |
| elevated pulmonary artery pressure | An abnormally elevated blood pressure in the circulation of the pulmonary artery. |
| abnormal intraocular pressure | An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. |
| small for gestational age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| perioral eczema | A type of eczema that occurs in the lips and perioral area. |
| increased serum lactate | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. |
| macrodontia | Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. |
| anisocoria | Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. |
| short clavicles | Reduced length of the clavicles. |
| decreased miniature endplate potentials | An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. |
| cerebellar calcifications | |
| 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. |
| bulimia | A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). |
| abnormality of the middle phalanx of the 3rd finger | |
| increased red blood cell mass | The presence of an increased mass of red blood cells in the circulation. |
| failure to thrive in infancy | |
| narrow forehead | Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). |
| foveoschisis | Splitting of the retinal layers in the macula. |
| molluscoid pseudotumors | Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. |
| impaired reabsorption of chloride | |
| abnormality of the breast | An abnormality of the breast. |
| sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| ocular pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. |
| ulnar deviation of the 3rd finger | Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). |
| abnormality of the mediastinum | |
| imbalanced hemoglobin synthesis | Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. |
| 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. |
| type ii transferrin isoform profile | Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. |
| abnormality of the calf musculature | |
| microcornea | A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. |
| decreased subcutaneous fat | |
| horizontal supranuclear gaze palsy | A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| split hand | A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. |
| cardiac rhabdomyoma | A benign tumor of cardiac striated muscle. |
| hepatic abscesses due to immunodeficiency | |
| urethral obstruction | |
| polyneuropathy | |
| 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. |
| abnormal shape of the frontal region | An abnormal shape of the frontal part of the head. |
| aplasia/hypoplasia of the tongue | Absence or underdevelopment of the tongue. |
| abnormality of immune system physiology | A functional abnormality of the immune system. |
| white hair | Hypopigmented hair that appears white. |
| mild proteinuria | Mildly increased levels of protein in the urine (150-500 mg per day in adults). |
| large basal ganglia | Increased size of the basal ganglia. |
| delayed eruption of primary teeth | Delayed tooth eruption affecting the primary dentition. |
| cerebellar hemangioblastoma | A 'hemangioblastoma of the cerebellum. |
| neurogenic bladder | |
| diminished motivation | A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. |
| aspiration pneumonia | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. |
| punctate vertebral calcifications | The presence of punctiform calcification of the bone of the vertebral bodies. |
| globozoospermia | Any structural anomaly of the acrosome resulting in a round sperm head. |
| multiple renal cysts | The presence of many cysts in the kidney. |
| abnormality of the diencephalon | An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. |
| thick vermilion border | Increased width of the skin of vermilion border region of upper lip (FMA:312645). |
| conjugated hyperbilirubinemia | |
| cholesterol gallstones | Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. |
| abnormality of the bronchi | |
| long eyelashes | Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). |
| enlargement of the distal femoral epiphysis | An abnormal enlargement of the distal epiphysis of the femur. |
| abnormal iris pigmentation | Abnormal pigmentation of the iris. |
| scarring | |
| bilobate gallbladder | The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. |
| skin pit | A small, skin-lined tract that leads from the surface to deep within the tissues. |
| neoplasm of the nail | A tumor (abnormal growth of tissue) of the nail. |
| calcification of the auricular cartilage | Ossification affecting the external ear cartilage. |
| microglossia | Decreased length and width of the tongue. |
| increased laxity of fingers | |
| bilateral cleft lip | A non-midline cleft of the upper lip on the left and right sides. |
| turricephaly | Tall head relative to width and length. |
| atypical nevi (>5mm with irregular edge and pigmentation) | |
| defective b cell differentiation | |
| recurrent deep vein thrombosis | Repeated episodes of the formation of a blot clot in a deep vein. |
| fetal megacystis | Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. |
| frontotemporal cerebral atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. |
| calcification of the small brain vessels | Deposition of calcium salts within small blood vessels of the brain. |
| abnormality of the tonsils | An abnormality of the tonsils. |
| abnormality of the 2nd metacarpal | Any abnormality of the second metacarpal bone. |
| abnormality of the helix | An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. |
| fused fourth and fifth metacarpals | |
| small abnormally formed scapulae | |
| bilateral convulsive seizures | Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures. |
| abnormality of the urinary system physiology | |
| enlarged epiphyses | Increased size of epiphyses. |
| progressive flexion contractures | Progressively worsening joint contractures. |
| abnormality of the phalanges of the hallux | |
| upper limb muscle hypoplasia | Underdevelopment of muscles of the arm. |
| stenosis of the external auditory canal | An abnormal narrowing of the external auditory canal. |
| increased urinary urate | Elevanted concentration of urate in the urine. |
| absent speech | Complete lack of development of speech and language abilities. |
| absence of lutheran antigen on erythrocytes | Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. |
| hypocalcemic tetany | Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. |
| venous varicosities of celiac and mesenteric vessels | Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. |
| low-set nipples | Placement of the nipples at a lower than normal location. |
| profound sensorineural hearing impairment | Complete loss of hearing related to a sensorineural defect. |
| alveolar ridge cleft | A gap (cleft) affecting one of the alveolar ridges. |
| abnormality of reproductive system physiology | An abnormal functionality of the genital system. |
| single median maxillary incisor | The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor. |
| abnormality of the posterior segment of the eye | The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. |
| slender toe | Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| bulbar palsy | Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. |
| elevated plasma pyrophosphate | An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. |
| primary adrenal insufficiency | |
| chronic rhinitis | A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. |
| patellar hypoplasia | Underdevelopment of the patella. |
| myeloproliferative disorder | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| neoplasm of the rectum | |
| congenital symmetrical palmoplantar keratosis | |
| poor head control | Difficulty to maintain correct position of the head while standing or sitting. |
| abnormality of the optic nerve | Abnormality of the optic nerve. |
| microcephaly | OMIM mapping confirmed by DO. [SN]. |
| abnormality of the femoral neck | An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| poor fine motor coordination | |
| hypoplasia of the epiglottis | Hypoplasia of the epiglottis. |
| ischemic stroke | |
| abnormality of aromatic amino acid family metabolism | An abnormality of a aromatic amino acid family metabolic process. |
| abnormality of eye movement | An abnormality in voluntary or involuntary eye movements or their control. |
| coronal craniosynostosis | Premature closure of the coronal suture of skull. |
| aplasia/hypoplasia of the colon | Congenital absence or underdevelopment of the colon. |
| fibular hypoplasia | Underdevelopment of the fibula. |
| everted lower lip vermilion | An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. |
| abnormality of the prostate | An abnormality of the prostate. |
| abnormality of mouth shape | An abnormality of the outline, configuration, or contour of the mouth. |
| rectal abscess | A collection of pus in the area of the rectum. |
| recurrent opportunistic infections | Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. |
| irritability | |
| aplasia/hypoplasia of the 3rd metacarpal | Aplasia or Hypoplasia affecting the 3rd metacarpal. |
| short middle phalanx of toe | Developmental hypoplasia (shortening) of middle phalanx of toe. |
| renal neoplasm | Tumors or cancers of the KIDNEY. |
| reduced xanthine dehydrogenase activity | |
| pectoral muscle hypoplasia/aplasia | |
| delayed skeletal maturation | A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. |
| facial edema | |
| prolonged g2 phase of cell cycle | |
| corneal stromal edema | Abnormal accumulation of fluid and swelling of the stroma of cornea. |
| thoracic scoliosis | |
| sudanophilic leukodystrophy | |
| chronic hepatic failure | |
| hematemesis | The vomiting of blood. |
| overlapping fingers | A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. |
| macrogyria | Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. |
| pruritus | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| abnormal urinary sulfate concentration | Abnormal concentration of sulfate in the urine. |
| nephroblastoma (wilms tumor) | |
| hypoplastic iliac body | Underdevelopment of the body of ilium. |
| flat cornea | NT MGI. |
| punctate keratitis | |
| enlarged proximal interphalangeal joints | |
| 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. |
| pulmonary artery hypoplasia | Underdevelopment of the pulmonary artery. |
| attenuation of retinal blood vessels | |
| short first metatarsal | Short first metatarsal bone. |
| meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| microvesicular hepatic steatosis | A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. |
| abnormal spatial orientation of the cardiac segments | |
| flattened, squared-off epiphyses of tubular bones | |
| broad nail | Increased width of nail. |
| hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| increased laxity of ankles | |
| hypotriglyceridemia | An decrease in the level of triglycerides in the blood. |
| abnormal morphology of the radius | |
| short finger | Abnormally short finger associated with developmental hypoplasia. |
| steep acetabular roof | An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. |
| abnormal rib ossification | An anomaly if the process of rib bone formation. |
| abnormality of head or neck | An abnormality of head and neck. |
| abnormality of the vertebral column | Any abnormality of the vertebral column. |
| focal clonic seizures | |
| renovascular hypertension | |
| progressive visual loss | A reduction of previously attained ability to see. |
| abnormality of creatine metabolism | An anomaly of the concentration or homeostasis of creatine. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. |
| anal fistula | An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. |
| congenital, generalized hypertrichosis | A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. |
| abnormality of corneal size | Any abnormality of the size or morphology of the cornea. |
| cigarette-paper scars | Thin (atrophic) and wide scars. |
| decreased size of nerve terminals | A reduction in the size of nerve terminals. |
| atrophy of the dentate nucleus | |
| nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | |
| abnormality of glutamine family amino acid metabolism | An abnormality of a glutamine family amino acid metabolic process. |
| growth abnormality | |
| postaxial polysyndactyly of foot | Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). |
| neurofibrosarcoma | |
| postaxial foot polydactyly | Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. |
| mediastinal lymphadenopathy | Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. |
| abnormal glomerular filtration rate | An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. |
| distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| pyloric stenosis | |
| abnormality of the cerebrum | An abnormality of the telencephalon, which is also known as the cerebrum. |
| involuntary movements | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| duplication of phalanx of hallux | Partial or complete duplication of one or more phalanx of big toe. |
| vitamin e deficiency | |
| congenital diaphragmatic hernia | A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. |
| abnormal sternal ossification | Any anomaly in the formation of the bony substance of the sternum. |
| undulate clavicles | An abnormally wavy surface or edge of the clavicles. |
| abnormal shape of the occiput | An abnormal shape of occiput. |
| poor coordination | |
| atypical nevi in non-sun exposed areas | |
| hypointensity of cerebral white matter on mri | A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. |
| increased urinary thiosulfate | Increased concentration of thiosulfate(2-) in the urine. |
| fibular aplasia | Absence of the fibula. |
| facial hypertrichosis | |
| tall stature | A height above that which is expected according to age and gender norms. |
| hemangiomatosis | |
| neovascularization of peripheral and posterior retina | |
| enteroviral dermatomyositis syndrome | |
| decreased sensitivity to hypoxemia | Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. |
| peripheral traction retinal detachment | |
| ivory epiphyses of the phalanges of the hand | Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. |
| severe global developmental delay | A severe delay in the achievement of motor or mental milestones in the domains of development of a child. |
| hypoplastic fingernail | Underdevelopment of a fingernail. |
| neonatal hypoglycemia | |
| abnormal involuntary eye movements | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| brushfield spots | The presence of whitish spots in a ring-like arrangement at the periphery of the iris. |
| abnormality of the nail | |
| abnormality of dna repair | An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. |
| hypomagnesemia | An abnormally decreased magnesium concentration in the blood. |
| paroxysmal nocturnal hemoglobinuria | NT MGI. |
| abnormality of the nose | An abnormality of the nose. |
| abnormality of the distal phalanx of the 2nd finger | |
| hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | |
| oral ulcer | A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. |
| dysplasia of the femoral head | The presence of developmental dysplasia of the femoral head. |
| premature coronary artery disease | |
| hyperalphalipoproteinemia | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. |
| abnormal metaphyseal vascular invasion | |
| absent hair | |
| distal symphalangism (hands) | The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. |
| pituitary hypothyroidism | A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. |
| tetraplegia/tetraparesis | Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. |
| bronchomalacia | |
| quadriceps muscle atrophy | Muscular atrophy involving the quadriceps muscle. |
| supernumerary spleens | The presence of two or more accessory spleens. |
| bulbar signs | |
| congenital pyloric atresia | Congenital atresia of the pylorus. |
| postaxial hand polydactyly | Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). |
| large central visual field defect | |
| lobulated tongue | Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. |
| dense metaphyseal bands | Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. |
| abnormality of the proximal phalanx of the 3rd finger | |
| generalized lipodystrophy | Generalized degenerative changes of the fat tissue. |
| hypoglycemic seizures | |
| abnormality of the ulnar epiphyses | |
| craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| generalized amyloid deposition | A diffuse form of amyloidosis. |
| recurrent bronchitis | An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. |
| cellulitis due to immunodeficiency | The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency. |
| transient hyperphenylalaninemia | A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). |
| loss of purkinje cells in the cerebellar vermis | |
| antiphospholipid antibody positivity | The presence of circulating autoantibodies to phospholipids. |
| 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. |
| restrictive lung disease | |
| knee clonus | .Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. |
| deep longitudinal plantar crease | Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. |
| episodic ammonia intoxication | |
| recurrent haemophilus influenzae infections | Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. |
| dermatological manifestations of systemic disorders | |
| aplasia/hypoplasia of the macula | |
| mesoaxial foot polydactyly | The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. |
| retinal hemangioblastoma | |
| progressive disorder | |
| atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| smooth tongue | Glossy appearance of the entire tongue surface. |
| abnormality of fatty-acid metabolism | An abnormality of fatty acid metabolism. |
| enlarged epiphysis of the middle phalanx of the 3rd finger | Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. |
| hypoplasia of the abdominal wall musculature | Underdevelopment of the abdominal musculature. |
| hoarse voice (caused by tumor impingement) | |
| blepharitis | An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. |
| lumbar hyperlordosis | An abnormal accentuation of the inward curvature of the spine in the lumbar region. |
| spinal cord tumor | |
| absent metatarsal bone | A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. |
| neonatal onset | Onset of signs or symptoms of disease within the first 28 days of life. |
| deep palmar crease | Excessively deep creases of the palm. |
| abnormality of the greater sacrosciatic notch | An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. |
| peripheral arterial disease | |
| exercise-induced muscle stiffness | A type of muscle stiffness that occurs following physical exertion. |
| spinocerebellar atrophy | Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. |
| thick lower lip vermilion | Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). |
| oligospermia | |
| emg: decremental response of compound muscle action potential to repetitive nerve stimulation | A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. |
| anterior concavity of thoracic vertebrae | |
| 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. |
| abnormality of the large intestine | Any abnormality of the large intestine. |
| spastic paraplegia | Spasticity and weakness of the leg and hip muscles. |
| acute hepatitis | |
| freckling | The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| retinal atrophy | |
| abnormality of blood circulation | An abnormality of blood circulation. |
| recurrent cutaneous fungal infections | |
| 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. |
| postural tremor | A type of tremors that is triggered by holding a limb in a fixed position. |
| pleural lymphangiectasia | |
| talipes calcaneovarus | A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. |
| polycoria | Multiple pupils. |
| maternal virilization in pregnancy | Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. |
| short hallux | Underdevelopment (hypoplasia) of the big toe. |
| abnormality of zinc homeostasis | An abnormality of zinc ion homeostasis. |
| prolinuria | An increased concentration of proline in the urine. |
| global glomerulosclerosis | Complete and diffuse scarring of glomerulus. |
| lewy bodies | |
| photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| abnormality of bone marrow cell morphology | An anomaly of the form or number of cells in the bone marrow. |
| ectopic supraventricular rhythms | |
| reduced number of teeth | The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. |
| decreased sweating due to autonomic dysfunction | |
| horizontal eyebrow | An eyebrow that extends straight across the brow, without curve. |
| paranasal sinus hypoplasia | Underdevelopment of the paranasal sinuses. |
| membranoproliferative glomerulonephritis | |
| clitoral hypoplasia | Developmental hypoplasia of the clitoris. |
| intermittent episodes of respiratory insufficiency due to muscle weakness | |
| tapered finger | The gradual reduction in girth of the digit from proximal to distal. |
| hemianopic blurring of vision | Transient hemianopsia associated with the aura phase of migraine. |
| long eyebrows | Increased length of the hairs of the eyebrows. |
| adipose tissue loss | A loss of adipose tissue. |
| periventricular leukomalacia | |
| multiple skeletal anomalies | |
| ovarian papillary adenocarcinoma | The presence of a papillary adenocarcinoma of the ovary. |
| sparse axillary hair | Reduced number or density of axillary hair. |
| absent anterior eye chamber | |
| hyperechogenic kidneys | An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. |
| shagreen patch | A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. |
| phonophobia | An abnormally heightened sensitivity to loud sounds. |
| gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| white mater abnormalities in the posterior periventricular region | |
| glioblastoma multiforme | The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)|Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. |
| conotruncal defect | A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. |
| orthostatic hypotension due to autonomic dysfunction | |
| abnormality of the lymph nodes | A lymph node abnormality. |
| anteverted nares | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| bicarbonate-wasting renal tubular acidosis | |
| temporal cortical atrophy | Atrophy of the temporal cortex. |
| pseudoepiphyses of the proximal phalanges of the hand | |
| proximal symphalangism (hands) | The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. |
| abnormal cartilage morphology | Any abnormality of cartilage. |
| abnormality of the mouth | An abnormality of the mouth. |
| abnormality of the labia | An anomaly of the labia, the externally visible portions of the vulva. |
| aplasia/hypoplasia of the musculature of the thigh | Absence or underdevelopment involving the musculature of the thigh. |
| 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. |
| abnormality of the wrist | Abnormality of the wrist, the structure connecting the hand and the forearm. |
| sclerodactyly | Localized thickening and tightness of the skin of the fingers or toes. |
| decreased platelet glycoprotein iib-iiia | Decreased cell membrane concentration of glycoprotein IIb-IIIa. |
| 3-4 finger syndactyly | Syndactyly with fusion of fingers three and four. |
| fixed elbow flexion | |
| secondary amenorrhea | |
| slender ulna | Reduction in diameter of the ??ulna. |
| decreased methionine synthase activity | A reduction in methionine synthase activity. |
| duplication involving bones of the feet | |
| abnormality of proline metabolism | An abnormality of a proline metabolic process. |
| abnormality of the hard palate | |
| grayish enamel | A grey discoloration of the dental enamel. |
| progressive ophthalmoplegia | |
| recurrent staphylococcus aureus infections | Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. |
| morphological abnormality of the pyramidal tract | Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. |
| anteriorly placed odontoid process | Anterior mislocalization of the dens of the axis. |
| truncus arteriosus | A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. |
| depressed nasal bridge | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| cardiac myxoma | A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. |
| abnormality of the musculature of the hand | |
| abnormality of the oligodendroglia | One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. |
| episodic hemolytic anemia | A form of hemolytic anemia that occurs in repeated episodes. |
| hyperconvex nail | When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. |
| congenital onset | A phenotypic abnormality that is present at birth. |
| cervical spinal canal stenosis | An abnormal narrowing of the cervical spinal canal. |
| synostosis of carpal bones | |
| bone pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. |
| aplasia/hypoplasia of the middle phalanx of the 5th finger | Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. |
| gonadotropin excess | Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. |
| abnormally prominent line of schwalbe | |
| oculomotor nerve palsy | Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). |
| hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| abnormality of the sweat gland | |
| aplasia/hypoplasia of the phalanges of the hallux | |
| ventricular preexcitation | An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. |
| aplasia/hypoplasia of the fibula | Absence or underdevelopment of the fibula. |
| impaired distal proprioception | A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. |
| absent fourth finger distal interphalangeal crease | Absence of the distal interphalangeal flexion creases of the fourth finger. |
| anisospondyly | Abnormally increased variability of the size of the vertebral bodies. |
| head-banging | Habitual striking of one's own head against a surface such as a mattress or wall of a crib. |
| abnormality of the pinna | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| left postterior fascicular block | Conduction block in the posterior division of the left bundle branch of the bundle of His. |
| progressive cerebellar ataxia | |
| primum atrial septal defect | An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. |
| 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. |
| contractures of the interphalangeal joint of the thumb | Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. |
| increased muscle fatiguability | An abnormal, increased fatiguability of the musculature. |
| cold-induced muscle cramps | Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. |
| abnormal peripheral action potential amplitude | An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. |
| hypersegmentation of neutrophil nuclei | An excessive division of the lobes of the nucleus of a neutrophil. |
| infantile axial hypotonia | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. |
| abnormality of the parathyroid gland | An abnormality of the parathyroid gland. |
| total anomalous pulmonary venous return | |
| heparan sulfate excretion in urine | An increased concentration of heparan sulfates in the urine. |
| malignant genitourinary tract tumor | The presence of a malignant neoplasm of the genital system. |
| abnormality of the calcaneus | An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. |
| decreased adipose tissue | |
| ureterocele | OMIM mapping confirmed by DO. [LS]. |
| xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| olivopontocerebellar hypoplasia | Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. |
| cutis laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| facial-lingual fasciculations | Fasciculations affecting the tongue muscle and the musculature of the face. |
| fat malabsorption | Abnormality of the absorption of fat from the gastrointestinal tract. |
| glutaric aciduria | An increased concentration of glutaric acid in the urine. |
| abnormality of nucleobase metabolism | An abnormality of a nucleobase metabolic process. |
| delayed epiphyseal ossification | |
| supranuclear ophthalmoplegia | A vertical gaze palsy with inability to direct the gaze of the eyes downwards. |
| depletion of mitochondrial dna in muscle tissue | |
| visual impairment | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| upper extremity joint dislocation | Displacement or malalignment of one or more joints in the upper extremity (arm). |
| abnormality of the epiphyses of the 2nd finger | Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. |
| osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| mixed demyelinating and axonal polyneuropathy | |
| aplasia/hypoplasia of the thumb | Hypoplastic/small or absent thumb. |
| axillary apocrine gland hypoplasia | Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. |
| hand muscle weakness | Reduced strength of the musculature of the hand. |
| dense calcifications in the cerebellar dentate nucleus | |
| ileal atresia | An abnormal closure, or atresia of the tubular structure of the ileum. |
| protein avoidance |
