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anemia, nonspherocytic hemolytic, due to G6PD deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0010480

An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. [ https://www.clinicalgenome.org/affiliation/40026 ]

Synonyms: severe hemolytic anemia due to G6PD deficiency severe hemolytic anaemia due to G6PD deficiency hemolytic anaemia due to G6PD deficiency hemolytic anemia, G6PD deficient (favism), X-linked dominant anemia, nonspherocytic hemolytic, due to G6PD deficiency hemolytic anemia due to G6PD deficiency class I glucose-6-phosphate dehydrogenase deficiency Class I G6PD deficiency

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

https://github.com/monarch-initiative/mondo/issues/4202

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

https://github.com/monarch-initiative/mondo/issues/6252

exactMatch

https://omim.org/entry/300908

http://linkedlifedata.com/resource/umls/id/C2720289

http://www.orpha.net/ORDO/Orphanet_466026

http://identifiers.org/mesh/C567533

id

MONDO:0010480

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010480