Immunodeficiency with Hyper-IgM Type 2

Preferred Label : Immunodeficiency with Hyper-IgM Type 2;

NCIt synonyms : HIGM2;

NCIt definition : An autosomal recessive immunodeficiency that is caused by mutation(s) in the AICDA gene, single-stranded DNA cytosine deaminase. It is characterized by normal or elevated concentrations of IgM and decreased or absent concentrations of IgG, IgA, and IgE.;

Details

Origin ID

C129074;

UMLS CUI

C1720956;

Automatic exact mappings (from CISMeF team)
- activation induced cytidine deaminase [ORDO Gene]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Activation-induced cytidine deaminase deficiency [ICD-11 More detail]
- Hyper-IgM immunodeficiency syndrome, type 2 [MeSH concept]
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 2 [OMIM Phenotype]
- immunodeficiency with hyper-IgM type 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Activation-induced cytidine deaminase deficiency [ICD-11 More detail]
- Hyper-IgM immunodeficiency syndrome, type 2 [MeSH concept]
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 2 [OMIM Phenotype]
- immunodeficiency with hyper-IgM type 2 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AICDA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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