| 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:0000083 | Renal failure | |
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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:0000232 | Everted lower lip | |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000365 | Hearing loss | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000457 | Flat nose | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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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:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000962 | 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." [HPO:curators] |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001019 | 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." [HPO:probinson] |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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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:0001622 | Premature birth | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001820 | Leukonychia | |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0001944 | Dehydration | |
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| HP:0002047 | Malignant hyperthermia | "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] |
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| HP:0002063 | Rigidity | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002205 | Recurrent respiratory infections | |
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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:0007431 | Congenital ichthyosiform erythroderma | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0008070 | Sparse hair | |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0011039 | Abnormality of the helix | "An abnormality of the `helix` (FMA:60992)." [HPO:probinson] |
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| HP:0012472 | Eclabion | "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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| HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
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| HP:0100806 | Sepsis | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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