CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C3809738 | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | disease | Disease or Syndrome | 2 | 5 | |||
C4014814 | MYOPATHY, CENTRONUCLEAR, 5 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 5 |