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hyper-IgM syndrome type 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0011971

Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase hyper-IgM syndrome caused by mutation in UNG HIGM5 hyper-IgM syndrome 5 UNG hyper-IgM syndrome immunodeficiency with hyper IgM, type 5 hyper-IgM syndrome type 5

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0060759

http://www.orpha.net/ORDO/Orphanet_101092

https://omim.org/entry/608106

has related synonym

hyper IgM syndrome 5

immunodeficiency with hyper-IgM, type 5

immunodeficiency with hyper IgM type 5

id

MONDO:0011971

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011971

https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5

Term relations

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