Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1843292 | Skin Fragility-Woolly Hair Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Disease or Syndrome | 1 | 6 |