| 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:0000166 | Severe, early-onset periodontitis | |
Show
|
| HP:0000230 | Gingivitis | |
Show
|
| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
Show
|
| HP:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
Show
|
| HP:0000982 | Palmoplantar keratoderma | |
Show
|
| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
Show
|
| HP:0001053 | Hypopigmented skin patches | |
Show
|
| HP:0001073 | Cigarette-paper scars | |
Show
|
| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
Show
|
| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
Show
|
| HP:0001805 | Thickened nails | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
Show
|
| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
Show
|
| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
Show
|
| HP:0002797 | Osteolysis | |
Show
|
| HP:0002860 | Squamous cell carcinoma | |
Show
|
| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
Show
|
| HP:0005406 | Recurrent bacterial skin infections | |
Show
|
| HP:0006224 | Tapered, pointed distal phalanges | |
Show
|
| HP:0006308 | Atrophy of alveolar ridges | |
Show
|
| HP:0006323 | Premature deciduous tooth loss | |
Show
|
| HP:0006480 | Premature loss of teeth | |
Show
|
| HP:0006960 | Choroid plexus calcification | "Calcification occurring within the choroid plexus." [HPO:curators] |
Show
|
| HP:0007545 | Congenital palmoplantar keratosis | |
Show
|
| HP:0008404 | Nail dystrophy, variable | |
Show
|
| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
Show
|
| HP:0009804 | Reduced number of teeth | |
Show
|
| HP:0011132 | Chronic furunculosis | "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson] |
Show
|
| HP:0030816 | Gingival recession | "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] |
Show
|
| HP:0100523 | Liver abscess | "The presence of an `abscess` (MPATH:608) of the `liver` (FMA:7197)." [HPO:probinson] |
Show
|
| HP:0100838 | Recurrent cutaneous abscess formation | "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] |
Show
|
| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
Show
|
