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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/233700
http://purl.bioontology.org/ontology/OMIM/233700
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|---|---|
| Preferred Name | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 |
| Synonyms |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
SOLUBLE OXIDASE COMPONENT II DEFICIENCY
NCF1 DEFICIENCY
CGD1
SOC2 DEFICIENCY
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY
p47-PHOX DEFICIENCY
NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
SOLUBLE OXIDASE COMPONENT II DEFICIENCY
NCF1 DEFICIENCY
CGD1
SOC2 DEFICIENCY
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY
p47-PHOX DEFICIENCY
NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I
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|---|---|
| prefLabel | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
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| Gene Symbol |
CGD1
NCF1
|
| Scope Statement | Autosomal recessive cytochrome b-positive CGD, type II (233710) [MISCELLANEOUS]
Autosomal recessive cytochrome b-positive CGD, type I [MISCELLANEOUS]
X-linked recessive cytochrome b-negative CGD (306400) [MISCELLANEOUS]
Caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (NCF1, 608512.0001) [MOLECULAR BASIS]
Four types of CGD with basically identical clinical phenotypes [MISCELLANEOUS]
Onset usually in first decade [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 | 7q11.23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 233700
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1856251
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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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