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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/233710
http://purl.bioontology.org/ontology/OMIM/233710
|
|---|---|
| Preferred Name | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 |
| Synonyms |
p67-PHOX DEFICIENCY
CGD2
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY
NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY
NCF2 DEFICIENCY
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
p67-PHOX DEFICIENCY
CGD2
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY
NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY
NCF2 DEFICIENCY
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II
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|---|---|
| prefLabel | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
|
| Gene Symbol | NCF2
|
| Scope Statement | Autosomal recessive cytochrome b-positive CGD, type I (233700) [MISCELLANEOUS]
X-linked recessive cytochrome b-negative CGD (306400) [MISCELLANEOUS]
Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, 608515.0001) [MOLECULAR BASIS]
Four types of CGD with basically identical clinical phenotypes [MISCELLANEOUS]
Onset usually in first decade [MISCELLANEOUS]
Autosomal recessive cytochrome b-positive CGD, type II [MISCELLANEOUS]
Autosomal recessive cytochrome b-negative CGD (233690) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1q25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 233710
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1856245
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |