Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0751951 | Central Core Myopathy (disorder) | disease | Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 69 |