Combined Oxidative Phosphorylation Deficiency 11
Disease ID: disease_node_16744
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| Dbxref | MIM:614922, ORDO:324535 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD11, infantile encephaloneuromyopathy due to mitochondrial translation defect |
| Doid Label | combined oxidative phosphorylation deficiency 11 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16744 |
| Doid Id | DOID_0111481 |
| Label | Combined Oxidative Phosphorylation Deficiency 11 |
- 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)