autosomal recessive chronic granulomatous disease 1

Summary

DOID:0070192 - autosomal recessive chronic granulomatous disease 1

Disease Ontology Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.

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 soluble oxidase component II, deficiency of neutrophil cytosol factor 1, deficiency of p47-PHOX, deficiency of SOC2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ncf1

MIM:

MIM:233700 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1

MIM:233700 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), chronic granulomatous disease (is_a)