| 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:0000008 | Abnormality of female internal genitalia | |
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| HP:0000029 | Testicular atrophy | |
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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: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:0000579 | Nasolacrimal duct obstruction | |
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| HP:0000600 | Abnormality of the pharynx | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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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:0000691 | Microdontia | |
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| HP:0000704 | Periodontal disease | |
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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:0000953 | Hyperpigmentation | |
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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: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:0001394 | Cirrhosis | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001510 | Growth retardation | |
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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:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001876 | Pancytopenia | |
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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:0002024 | Malabsorption | |
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| HP:0002043 | Esophageal stricture | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002165 | Pterygium formation (nails) | |
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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: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: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:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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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:0002894 | Pancreatic cancer | |
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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:0005374 | Cellular immunodeficiency | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0007427 | Reticulated skin pigmentation | |
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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: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: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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