Hyper-Ige recurrent infection syndrome, autosomal dominant

Preferred Label : Hyper-Ige recurrent infection syndrome, autosomal dominant;

MeSH note : associated with mutation in STAT3 gene; promote to HM;

Détails

Origin ID

C567925;

UMLS CUI

C3489795;

Currated CISMeF NLP mapping
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Hyper-ige syndrome 1, autosomal dominant, with recurrent infections [OMIM Phenotype]
Manual NTBT mappings (CISMeF)
- Hyperimmunoglobulin E Syndrome [NCIt concept]
MeSH term(s) associated for indexing
- job syndrome [MeSH Descriptor]
- stat3 transcription factor [MeSH Descriptor]
Record concept(s)
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Hyper-ige syndrome 1, autosomal dominant, with recurrent infections [OMIM Phenotype]
Validated automatic mappings to NTBT
- hyperimmunoglobulin E syndrome [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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