Combined Oxidative Phosphorylation Deficiency 53
Disease ID: disease_node_16763
Connections displayed (default: 10).
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| Dbxref | MIM:619423 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD53 |
| Doid Label | combined oxidative phosphorylation deficiency 53 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16763 |
| Doid Id | DOID_0070426 |
| Label | Combined Oxidative Phosphorylation Deficiency 53 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined Oxidative Phosphorylation Deficiency(ID:disease_node_16714) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)