| HP:0000006 | 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." [HPO:curators] |
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| HP:0000008 | Abnormality of female internal genitalia | |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000035 | Abnormality of the testis | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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| HP:0000485 | Megalocornea | "An enlargement of the `cornea` (FMA:58238) with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
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| HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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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:0000534 | Abnormality of the eyebrow | "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000555 | Leukocoria | |
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| HP:0000600 | Abnormality of the pharynx | |
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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:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000670 | Carious teeth | |
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| HP:0000679 | Taurodontia | |
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| HP:0000704 | Periodontal disease | |
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| HP:0000750 | Impaired language development | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001276 | Hypertonia | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001328 | Learning disability | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001803 | Nail pitting | |
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| HP:0001807 | Nail ridging | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001881 | Abnormality of leukocytes | |
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| HP:0001882 | Leukopenia | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002024 | Malabsorption | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002213 | Fine hair | |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002344 | Progressive neurologic deterioration | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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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:0002721 | Immunodeficiency | |
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| HP:0002745 | Oral leukoplakia | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002863 | Myelodysplasia | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003745 | Sporadic | |
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| HP:0003812 | Phenotypic variability | |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0006515 | Interstitial pneumonitis | |
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| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007427 | Reticulated skin pigmentation | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0007588 | Reticular hyperpigmentation | |
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| HP:0007617 | Fine, reticulate skin pigmentation | |
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| HP:0007898 | Exudative retinopathy | |
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| HP:0008065 | Aplasia/Hypoplasia of the skin | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008070 | Sparse hair | |
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| HP:0008402 | Longitudinally grooved fingernails | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0008661 | Urethral stenosis | |
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| HP:0009926 | Increased tear production | "Abnormally in creased lacrimation." [HPO:curators] |
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| HP:0010450 | Esophageal stenosis | "An abnormal narrowing of the lumen of the esophagus." [HPO:curators] |
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| HP:0010624 | Aplastic/hypoplastic toenails | |
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| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
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| HP:0011358 | Generalized hypopigmentation of hair | "Reduced pigmentation of hair diffusely." [DDD:cmoss] |
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| HP:0011364 | White hair | "Hypopigmented hair that appears white." [DDD:cmoss] |
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| HP:0012732 | Anorectal anomaly | "An abnormality of the anus or rectum." [HPO:probinson] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100627 | Displacement of the external urethral meatus | "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] |
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| HP:0100670 | Rough bone trabeculation | |
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| HP:0200037 | skin vesicle | "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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