Immunodeficiency 62

Preferred Label : Immunodeficiency 62;

Symbol : IMD62;

CISMeF acronym : IMD62;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Rho guanine nucleotide exchange factor 1 gene (ARHGEF1, 601855.0001);

Prefixed ID : #618459;

Details

Origin ID

618459;

UMLS CUI

C5193109;

Currated CISMeF NLP mapping
- immunodeficiency 62 [DO Concept]
DO Cross reference
- immunodeficiency 62 [DO Concept]
Genes related to phenotype
- Rho guanine nucleotide exchange factor 1 [OMIM gene]
HPO term(s)
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 62 [DO Concept]

Keyword's position in hierarchy(ies) :

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