Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0432233 | Trichorhinophalangeal dysplasia type I | disease | Skin and Connective Tissue Diseases; Musculoskeletal Diseases | Disease or Syndrome | genetic disease | 1 | 43 |