Combined Oxidative Phosphorylation Deficiency 12
Disease ID: disease_node_16734
Connections displayed (default: 10).
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| Dbxref | GARD:13381, MIM:614924, ORDO:314051 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD12, LTBL, leukoencephalopathy with thalamus and brainstem involvement and high lactate, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| Doid Label | combined oxidative phosphorylation deficiency 12 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16734 |
| Doid Id | DOID_0111493 |
| Label | Combined Oxidative Phosphorylation Deficiency 12 |
- 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)