Source: UNIPROT
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0546264 | Congenital Fiber Type Disproportion | disease | Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | 3 | 13 |