autosomal recessive chronic granulomatous disease 2

Summary

DOID:0070191 - autosomal recessive chronic granulomatous disease 2

Disease Ontology Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.

Synonyms: autosomal recessive chronic granulomatous disease 2, autosomal recessive chronic granulomatous disease cytochrome b-positive type II, CDG2, chronic granulomatous disease due to deficiency of NCF-2, deficiency of NCF2, deficiency of p67-PHOX

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

: ncf2

MIM:

MIM:233710 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; CGD2

MIM:233710 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; CGD2

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

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

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