Immunoglobulin a deficiency 2

Preferred Label : Immunoglobulin a deficiency 2;

Symbol : IGAD2;

CISMeF acronym : IGAD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Iga, selective deficiency of, taci-related; Immunoglobulin a, selective deficiency of, taci-related;

Prefixed ID : #609529;

Details

Origin ID

609529;

UMLS CUI

C1836032;

Automatic exact mappings (from CISMeF team)
- Immunoglobulin A deficiency [ORDO Disease]
- TNF receptor superfamily member 13B [ORDO Gene]
- TNF receptor superfamily member 13B [HGNC gene]
- TNFRSF13B wt Allele [NCIt concept]
Broader ORDO disease(s)
- Immunoglobulin A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Immunoglobulin a deficiency 2 [MeSH concept]
- TACI-related selective deficiency of IgA [ORDO Disease]
- immunoglobulin a deficiency 2 [MeSH Supplementary Concept]
DO Cross reference
- immunoglobulin alpha deficiency [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 13b [OMIM gene]
HPO term(s)
- Abnormal lymphocyte morphology [HPO term]
- Autoimmunity [HPO term]
- Decreased circulating IgA level [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent sinopulmonary infections [HPO term]
ORDO concept(s)
- Immunoglobulin A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunoglobulin a deficiency 2 [MeSH concept]
- TACI-related selective deficiency of IgA [ORDO Disease]
- immunoglobulin a deficiency 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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