Combined Oxidative Phosphorylation Deficiency 18
Disease ID: disease_node_16742
Connections displayed (default: 10).
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| Dbxref | MIM:615578, ORDO:391348 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD18, growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| Doid Label | combined oxidative phosphorylation deficiency 18 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16742 |
| Doid Id | DOID_0111484 |
| Label | Combined Oxidative Phosphorylation Deficiency 18 |
- 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)