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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614162
http://purl.bioontology.org/ontology/OMIM/614162
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 31C |
| Synonyms |
CANDIDIASIS, FAMILIAL, 7
CANDF7
CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
IMD31C
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CANDIDIASIS, FAMILIAL, 7
CANDF7
CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
IMD31C
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 31C
|
| Gene Symbol |
STAT1
IMD31B
IMD31C
IMD31A
CANDF7
|
| Scope Statement | Onset in infancy or early childhood [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the signal transducer and activator of transcription 1 gene (STAT1, 600555.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q32.2-q32.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614162
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3279990
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |