Nuclear Type Mitochondrial Complex I Deficiency 13
Disease ID: disease_node_17003
Connections displayed (default: 10).
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| Dbxref | MIM:618235 |
|---|---|
| Subclassof | DOID_0112065, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC1DN13 |
| Doid Label | nuclear type mitochondrial complex I deficiency 13 |
| Doid Description | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17003 |
| Doid Id | DOID_0112076 |
| Label | Nuclear Type Mitochondrial Complex I Deficiency 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Nuclear Type Mitochondrial Complex I Deficiency(ID:disease_node_16979) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)