| 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 |
|
| API | |
| Script | |
| Downloads |
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. |
