CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 3 | 5 | ||
C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 16 | ||
C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | disease | Disease or Syndrome | disease of anatomical entity | 2 | 8 |