Combined Oxidative Phosphorylation Deficiency 19
Disease ID: disease_node_16749
Connections displayed (default: 10).
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| Dbxref | MIM:615595, ORDO:397593 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060286 |
| Data Source | DOID |
| Synonyms | COXPD19, severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
| Doid Label | combined oxidative phosphorylation deficiency 19 |
| Doid Description | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16749 |
| Doid Id | DOID_0111476 |
| Label | Combined Oxidative Phosphorylation Deficiency 19 |
- 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)