Combined Oxidative Phosphorylation Deficiency 31
Disease ID: disease_node_16739
Connections displayed (default: 10).
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| Dbxref | MIM:617228, ORDO:478049 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD31, lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| Doid Label | combined oxidative phosphorylation deficiency 31 |
| Doid Description | A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16739 |
| Doid Id | DOID_0111488 |
| Label | Combined Oxidative Phosphorylation Deficiency 31 |
- 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)