Combined Oxidative Phosphorylation Deficiency 23
Disease ID: disease_node_16728
Connections displayed (default: 10).
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| Dbxref | MIM:616198, ORDO:444013 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD23 |
| Doid Label | combined oxidative phosphorylation deficiency 23 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. |
| Has Symptom | SYMP_0020049 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16728 |
| Doid Id | DOID_0111500 |
| Label | Combined Oxidative Phosphorylation Deficiency 23 |
- Outgoing r'ship
HAS_SYMPTOMto/from Delayed Psychomotor Development(ID:disease_node_21469) (Disease) - 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)