| HP:0000007 | 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)." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000244 | Brachyturricephaly | |
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| HP:0000275 | Narrow face | |
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| HP:0000276 | Long face | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000331 | Small chin | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000417 | Slender nose | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000545 | Myopia | |
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| HP:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000601 | Hypotelorism | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000685 | Hypoplastic teeth | |
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| HP:0000691 | Microdontia | |
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| HP:0000902 | Rib fusion | |
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| HP:0000938 | 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." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001029 | Poikiloderma | |
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| HP:0001070 | Mottled pigmentation | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001180 | Oligodactyly (hands) | "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:curators] |
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| HP:0001191 | Abnormality of the carpal bones | "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) 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." [HPO:probinson] |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001545 | Anteriorly placed anus | "Anterior malposition of the anus." [HPO:curators] |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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| HP:0001671 | Abnormality of the cardiac septa | |
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| HP:0001875 | Neutropenia | |
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| HP:0001903 | Anemia | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002024 | Malabsorption | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0002863 | Myelodysplasia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0002996 | Limited elbow movement | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
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| HP:0003065 | Patellar hypoplasia | "Underdevelopment of the patella." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003468 | Abnormalities of the vertebrae | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0004231 | Absent carpal bones/absent ossification of the carpal bones | |
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| HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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| HP:0004425 | Flattened forehead | "An abnormally flat form of the forehead." [HPO:curators] |
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| HP:0004440 | Coronal craniosynostosis | |
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| HP:0004442 | Sagittal craniosynostosis | |
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| HP:0004443 | Lambdoidal craniosynostosis | |
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| HP:0004871 | Perineal fistula | "The presence of a fistula (abnormal tunnel) between the bowel and the perineum (diamond-shaped region of the body between the pubic arch and the anus)." [HPO:curators] |
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| HP:0005198 | 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." [HPO:curators] |
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| HP:0005201 | Anomalous splenoportal venous system | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005886 | Aphalangy, hands and feet | |
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| HP:0006467 | Limited shoulder movement | "A limitation of the range of movement of the shoulder joint." [HPO:curators] |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006498 | Aplasia/Hypoplasia of the patella | "Absence or underdevelopment of the patella." [HPO:curators] |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0007452 | Midface capillary hemangioma | |
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| HP:0007495 | Prematurely aged appearance | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0010048 | Aplasia of metacarpal bones | |
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| HP:0011120 | Saddle nose | "A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum." [HPO:probinson] |
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| HP:0011318 | Bicoronal synostosis | "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100542 | Abnormal localization of kidneys | |
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| HP:0100589 | Urogenital fistula | "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." [HPO:probinson] |
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