Immunodeficiency 53

Preferred Label : Immunodeficiency 53;

Symbol : IMD53;

CISMeF acronym : IMD53;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the V-REL avian reticuloendotheliosis viral oncogene homolog B gene (RELB, 604758.0001);

Prefixed ID : #617585;

Details

Origin ID

617585;

UMLS CUI

C4539811;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 53 [DO Concept]
DO Cross reference
- immunodeficiency 53 [DO Concept]
Genes related to phenotype
- Relb protooncogene, nfkb-subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 53 [DO Concept]

Keyword's position in hierarchy(ies) :

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