Combined Oxidative Phosphorylation Deficiency 52
Disease ID: disease_node_16764
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619386 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD52 |
| Doid Label | combined oxidative phosphorylation deficiency 52 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16764 |
| Doid Id | DOID_0070425 |
| Label | Combined Oxidative Phosphorylation Deficiency 52 |
- 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)