Immunodeficiency 60 and autoimmunity

Preferred Label : Immunodeficiency 60 and autoimmunity;

Symbol : IMD60;

CISMeF acronym : IMD60; BRIDA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency and autoimmunity, bach2-related; BRIDA;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BTB and CNC homology 2 gene (BACH2, 605394.0001);

Prefixed ID : #618394;

Details

Origin ID

618394;

UMLS CUI

C5193072;

Currated CISMeF NLP mapping
- immunodeficiency 60 [DO Concept]
DO Cross reference
- immunodeficiency 60 [DO Concept]
Genes related to phenotype
- Btb and cnc homology 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Colitis [HPO term]
- Crohn's disease [HPO term]
- Decreased basophil count [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgE [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of memory B cells [HPO term]
- Fever [HPO term]
- Pancytopenia [HPO term]
- Perinuclear antineutrophil antibody positivity [HPO term]
- Pulmonary fibrosis [HPO term]
- Pulmonary infiltrates [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Splenomegaly [HPO term]
- Ulcerative colitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 60 [DO Concept]

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