CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C1843004 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | disease | Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease | 1 |