Source: UNIPROT
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0268338 | Ehlers-Danlos Syndrome, Type IV | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 80 |