Combined Oxidative Phosphorylation Deficiency 21
Disease ID: disease_node_16758
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| Dbxref | MIM:615918, ORDO:420733 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD21 |
| Doid Label | combined oxidative phosphorylation deficiency 21 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16758 |
| Doid Id | DOID_0111465 |
| Label | Combined Oxidative Phosphorylation Deficiency 21 |
- 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)