Disease

autosomal recessive chronic granulomatous disease 2

Name: autosomal recessive chronic granulomatous disease 2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070191 autosomal recessive chronic granulomatous disease 2 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. autosomal recessive chronic granulomatous disease cytochrome b-positive type II chronic granulomatous disease due to deficiency of NCF-2 CDG2 deficiency of NCF2 deficiency of p67-PHOX

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 cytochrome b-positive type II
CDG2

Cross References

MIM:233710

Parent Terms

autosomal recessive disease
chronic granulomatous disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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