Combined Oxidative Phosphorylation Deficiency 24
Disease ID: disease_node_16741
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| Dbxref | MIM:616239, ORDO:444458 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD24 |
| Doid Label | combined oxidative phosphorylation deficiency 24 |
| Doid Description | A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16741 |
| Doid Id | DOID_0111485 |
| Label | Combined Oxidative Phosphorylation Deficiency 24 |
- 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)