Immunodeficiency 11b with atopic dermatitis

Preferred Label : Immunodeficiency 11b with atopic dermatitis;

Symbol : IMD11B;

CISMeF acronym : IMD11B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atopic dermatitis, elevated ige, and eosinophilia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caspase recruitment domain-containing protein 11 gene (CARD11, 607210.0007);

Prefixed ID : #617638;

Details

Origin ID

617638;

UMLS CUI

C4539957;

Currated CISMeF NLP mapping
- Immunodeficiency 11B with Atopic Dermatitis [NCIt concept]
- immunodeficiency 11B [DO Concept]
DO Cross reference
- immunodeficiency 11B [DO Concept]
Genes related to phenotype
- Caspase recruitment domain-containing protein 11 [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Eosinophilia [HPO term]
- Pneumonia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 11B with Atopic Dermatitis [NCIt concept]
- immunodeficiency 11B [DO Concept]

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