Combined Oxidative Phosphorylation Deficiency 8
Disease ID: disease_node_16746
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| Dbxref | MIM:614096, ORDO:319504 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD8 |
| Doid Label | combined oxidative phosphorylation deficiency 8 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16746 |
| Doid Id | DOID_0111479 |
| Label | Combined Oxidative Phosphorylation Deficiency 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Oxidative Phosphorylation Deficiency(ID:disease_node_16714) (Disease)