autosomal recessive chronic granulomatous disease 3

Summary

DOID:0070194 - autosomal recessive chronic granulomatous disease 3

Disease Ontology Definition:A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.

Synonyms: chronic granulomatous disease due to NCF4 deficiency, autosomal recessive cytochrome b-positive CGD type III, CDG3, autosomal recessive chronic granulomatous disease cytochrome b-positive type III

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

: ncf4

MIM:

MIM:613960 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3

MIM:613960 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3

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)