| Metadata | |
|---|---|
| ID | DOID:0112072 |
| Name | nuclear type mitochondrial complex I deficiency 20 |
| Definition | A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. https://ghr.nlm.nih.gov/condition/acad9-deficiency, https://pubmed.ncbi.nlm.nih.gov/17564966/, https://pubmed.ncbi.nlm.nih.gov/21057504/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:725046003 |
| Subsets |
DO_rare_slim |
| Synonyms |
ACAD9 deficiency [EXACT] Acyl-CoA dehydrogenase 9 deficiency [EXACT] MC1DN20 [EXACT] mitochondrial complex 1 deficiency due to ACAD9 deficiency [EXACT] |
| Parent Relationships |