| 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] |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000771 | Gynecomastia | |
Show
|
| HP:0000982 | Palmoplantar keratoderma | |
Show
|
| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
Show
|
| HP:0002155 | Hypertriglyceridemia | |
Show
|
| HP:0003124 | Hypercholesterolemia | |
Show
|
| HP:0006357 | Premature loss of secondary teeth | |
Show
|
| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
Show
|
| HP:0007410 | Palmoplantar hyperhidrosis | |
Show
|
| HP:0008404 | Nail dystrophy, variable | |
Show
|
| HP:0008665 | Hypertrophic clitoris | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0011838 | Sclerodactyly | "Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson] |
Show
|
| HP:0012118 | Laryngeal carcinoma | "A carcinoma of the larynx." [HPO:probinson] |
Show
|
| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
Show
|
| HP:0012861 | Ovotestis | "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson] |
Show
|
| HP:0025080 | Orthokeratotic hyperkeratosis | "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." [] |
Show
|
