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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/147060
http://purl.bioontology.org/ontology/OMIM/147060
|
|---|---|
| Preferred Name | HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS |
| Synonyms |
JOB SYNDROME
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HIES, AUTOSOMAL DOMINANT
HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT
HIES1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
JOB SYNDROME
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HIES, AUTOSOMAL DOMINANT
HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT
HIES1
|
|---|---|
| prefLabel | HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
|
| Gene Symbol |
APRF
ADMIO1
HIES
STAT3
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the signal transducer and activator of transcription-3 gene (STAT3, 102582.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 147060
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2936739
|
| Moved from | 146840
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |