Autosomal Recessive Chronic Granulomatous Disease 1
Disease ID: disease_node_20427
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| Dbxref | MIM:233700 |
|---|---|
| Subclassof | DOID_3265, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG1, autosomal recessive chronic granulomatous disease cytochrome b-positive type I, chronic granulomatous disease due to deficiency of NCF-1, deficiency of NCF1, deficiency of SOC2, deficiency of neutrophil cytosol factor 1, deficiency of p47-PHOX, deficiency of soluble oxidase component II |
| Doid Label | autosomal recessive chronic granulomatous disease 1 |
| Doid Description | A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20427 |
| Doid Id | DOID_0070192 |
| Label | Autosomal Recessive Chronic Granulomatous Disease 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Granulomatous Disease, Chronic(ID:disease_node_3621) (Disease)