3-Hydroxyisobutryl-Coa Hydrolase Deficiency
Disease ID: disease_node_20537
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| Dbxref | GARD:13202, MIM:250620, ORDO:88639 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | HIBCH deficiency, Methacrylic aciduria, Valine metabolic defect |
| Doid Label | 3-hydroxyisobutryl-CoA hydrolase deficiency |
| Doid Description | An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20537 |
| Doid Id | DOID_0060949 |
| Label | 3-Hydroxyisobutryl-Coa Hydrolase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)