Source: ORPHANET
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C4520892 | Otospondylomegaepiphyseal dysplasia | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Disease or Syndrome | disease of anatomical entity | 1 |