STAT3 Deficiency

Preferred Label : STAT3 Deficiency;

NCIt synonyms : Hyper-IgE Recurrent Infection Syndrome; Job Syndrome;

NCIt related terms : Autosomal dominant hyper-IgE syndrome; Job's syndrome;

NCIt definition : A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.;

Details

Origin ID

C126342;

UMLS CUI

C2936739;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hyperimmunoglobulin E syndrome [ICD-11 More detail]
- Hyper-ige recurrent infection syndrome [OMIM phenotypic series]
- hyper IgE recurrent infection syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Hyper-ige syndrome 1, autosomal dominant, with recurrent infections [OMIM Phenotype]
- Hyperimmunoglobulin E syndromes [ICD-11 Sub-sub category]
- Job's syndrome [MedDRA LLT]
- Job's syndrome (disorder) [SNOMED CT concept]
- job syndrome [MeSH concept]
- job syndrome [MeSH Descriptor]
- job's syndrome [SNOMED Notion]
DO Cross reference
- hyper IgE recurrent infection syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-Immunoglobulin E syndrome, autosomal dominant [MeSH concept]
- hyperimmunoglobulin e syndrome [SNOMED Notion]
- job syndrome [MeSH concept]
- job's syndrome [SNOMED Notion]
related_to_genetic_biomarker
- STAT3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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