Combined Oxidative Phosphorylation Deficiency 34
Disease ID: disease_node_16731
Connections displayed (default: 10).
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| Dbxref | MIM:617872, ORDO:457223 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD34, syndromic sensorineural deafness due to COXPD, syndromic sensorineural deafness due to combined oxidative phosphorylation defect, syndromic sensorineural hearing loss due to COXPD |
| Doid Label | combined oxidative phosphorylation deficiency 34 |
| Doid Description | A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. |
| Has Symptom | SYMP_0000296 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16731 |
| Doid Id | DOID_0111497 |
| Label | Combined Oxidative Phosphorylation Deficiency 34 |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatic Dysfunction(ID:disease_node_21006) (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)