Source: CLINVAR
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2932716 | Pseudohypoparathyroidism Type 1C | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 5 |