Combined Oxidative Phosphorylation Deficiency 6
Disease ID: disease_node_16726
Connections displayed (default: 10).
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| Dbxref | MIM:300816, ORDO:238329 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD6, Mitochondrial encephalomyopathy due to COXPD6, Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6, severe X-linked mitochondrial encephalomyopathy |
| Doid Label | combined oxidative phosphorylation deficiency 6 |
| Doid Description | A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16726 |
| Doid Id | DOID_0111502 |
| Label | Combined Oxidative Phosphorylation Deficiency 6 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Oxidative Phosphorylation Deficiency(ID:disease_node_16714) (Disease)