Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Disease ID: disease_node_16834
Connections displayed (default: 10).
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| Dbxref | GARD:13019, MIM:616277, NCI:C174218, ORDO:653880, UMLS_CUI:C4225391 |
|---|---|
| Subclassof | DOID_3146, DOID_700, DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | ECHS1D |
| Doid Label | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| Doid Description | A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16834 |
| Doid Id | DOID_0070540 |
| Label | Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Diseases(ID:disease_node_10985) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)