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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619752
http://purl.bioontology.org/ontology/OMIM/619752
|
|---|---|
| Preferred Name | HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS |
| Synonyms |
HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT
HIES4A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT
HIES4A
|
|---|---|
| prefLabel | HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
|
| Gene Symbol |
STWS2
HIES4B
IL6ST
HIES4A
IMD94
|
| Scope Statement | De novo mutation (in some patients) [MISCELLANEOUS]
Phenotypic variability, even within families [MISCELLANEOUS]
Caused by mutation in the interleukin 6 cytokine family signal transducer gene (IL6ST, 600694.0006) [MOLECULAR BASIS]
Onset in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 5q11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 619752
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676920
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |