| 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: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:0000034 | Hydrocele | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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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:0000300 | Oval face | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000793 | Membranoproliferative glomerulonephritis | |
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| HP:0000963 | Thin skin | |
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| HP:0000965 | Cutis marmorata | |
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| HP:0001004 | Lymphedema | |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [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:0001541 | Ascites | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001790 | Nonimmune hydrops fetalis | |
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| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0003189 | Long nose | |
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| HP:0003550 | Lymphedema, predominantly in the lower limbs | |
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| HP:0003577 | Onset at birth | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [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:0005598 | Facial telangiectasia in butterfly midface distribution | "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators] |
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| HP:0006521 | Pulmonary lymphangiectasia | "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [HPO:curators] |
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| HP:0007543 | Epidermal hyperkeratosis | |
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| HP:0007621 | Telangiectasia of extensor surfaces | |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
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| HP:0100540 | Palpebral edema | |
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| HP:0100763 | Abnormality of the lymphatic system | |
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| HP:0100869 | Palmar telangiectasia | "The presence of telangiectases on the `skin of palm of hand` (FMA:38301)." [HPO:probinson] |
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| HP:0100870 | Plantar telangiectasia | "Telangiectases (small dilated blood vessels) located on the `skin of sole of foot` (FMA:37849)." [HPO:probinson] |
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