hyper-IgM syndrome type 2

hyper-IgM syndrome type 2

http://purl.obolibrary.org/obo/MONDO_0011528

A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. [ http://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_2 ]

Synonyms: aid deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2 AICDA hyper-IgM syndrome Activation-induced cytidine deaminase deficiency hyper-IgM syndrome caused by mutation in AICDA

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database cross reference

SCTID:403836001 (MONDO:equivalentTo)
NCIT:C129074 (MONDO:equivalentTo)
GARD:10578 (Orphanet:101089)
DOID:0060758 (MONDO:equivalentTo)
Orphanet:101089 (OMIM:605258)
OMIM:605258 (Orphanet:101089/e)

Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C129074

http://identifiers.org/snomedct/403836001

http://www.orpha.net/ORDO/Orphanet_101089

http://purl.obolibrary.org/obo/DOID_0060758

https://omim.org/entry/605258

has related synonym

hyper IgM syndrome 2

immunodeficiency with hyper-IgM, type 2

immunodeficiency with hyper-IgM type 2

immunodeficiency with hyper IgM type 2

hyper-IgM syndrome 2

MONDO:0011528

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011528

https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2

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