Source: GENOMICS_ENGLAND
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C3711645 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | Abnormality of metabolism/homeostasis; Abnormal cellular phenotype | 1 |