| Metadata | |
|---|---|
| ID | DOID:0070540 |
| Name | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/25125611/, https://www.ncbi.nlm.nih.gov/books/NBK542806/ |
| Xrefs | |
| SKOS |
exactMatch MIM:616277 exactMatch UMLS_CUI:C4225391 exactMatch ORDO:653880 exactMatch GARD:13019 exactMatch NCI:C174218 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ECHS1D [EXACT] |
| Parent Relationships |
is_a lipid metabolism disorder is_a mitochondrial metabolism disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |