Immunodeficiency 11B with Atopic Dermatitis

Preferred Label : Immunodeficiency 11B with Atopic Dermatitis;

NCIt synonyms : Atopic Dermatitis, Elevated IgE, and Eosinophilia; IMD11B;

NCIt related terms : CARD11/CID;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.;

NCI Metathesaurus CUI : CL786201;

Details

Origin ID

C176630;

UMLS CUI

C4539957;

Currated CISMeF NLP mapping
- Immunodeficiency 11b with atopic dermatitis [OMIM Phenotype]
- immunodeficiency 11B [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 11b with atopic dermatitis [OMIM Phenotype]
- immunodeficiency 11B [DO Concept]
disease_mapped_to_gene
- CARD11 Gene [NCIt concept]
related_to_genetic_biomarker
- CARD11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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