CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1275808 | Congenital central hypoventilation | disease | Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 29 | 15 |