Immunodeficiency 7

Preferred Label : Immunodeficiency 7;

Symbol : IMD7;

CISMeF acronym : IMD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : T-cell receptor-alpha/beta deficiency; Tcr-alpha/beta deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T-cell receptor alpha chain constant region gene (TRAC, 186880.0001);

Prefixed ID : #615387;

Details

Origin ID

615387;

UMLS CUI

C3809332;

Automatic exact mappings (from CISMeF team)
- TCR-alpha-beta-positive T-cell deficiency [ORDO Disease]
- immunodeficiency 7 [DO Concept]
DO Cross reference
- immunodeficiency 7 [DO Concept]
Genes related to phenotype
- T-cell receptor alpha chain constant region [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypereosinophilia [HPO term]
- Infantile onset [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent infections [HPO term]
ORDO concept(s)
- TCR-alpha-beta-positive T-cell deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 7 [DO Concept]

Keyword's position in hierarchy(ies) :

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