Combined Oxidative Phosphorylation Deficiency 55
Disease ID: disease_node_16713
Connections displayed (default: 10).
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| Dbxref | MIM:619743 |
|---|---|
| Subclassof | DOID_0060286, DOID_0050739 |
| Data Source | DOID |
| Synonyms | COXPD55 |
| Doid Label | combined oxidative phosphorylation deficiency 55 |
| Doid Description | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_16713 |
| Doid Id | DOID_0070428 |
| Label | Combined Oxidative Phosphorylation Deficiency 55 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Oxidative Phosphorylation Deficiency(ID:disease_node_16714) (Disease)