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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/226990
http://purl.bioontology.org/ontology/OMIM/226990
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 32B |
| Synonyms |
IMMUNODEFICIENCY 32B, MONOCYTE, DENDRITIC CELL, AND NATURAL KILLER CELL DEFICIENCY, AUTOSOMAL RECESSIVE
IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE
IMD32B
EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMMUNODEFICIENCY 32B, MONOCYTE, DENDRITIC CELL, AND NATURAL KILLER CELL DEFICIENCY, AUTOSOMAL RECESSIVE
IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE
IMD32B
EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 32B
|
| Gene Symbol |
IRF8
IMD32B
IMD32A
ICSBP1
|
| Scope Statement | Variable phenotype [MISCELLANEOUS]
Caused by mutation in the interferon regulatory factor 8 gene (IRF8, 601565.0001) [MOLECULAR BASIS]
Onset in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 16q24.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 226990
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4751209
|
| Moved from | 614894
|
| 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 |