Disease #05354 (glutathioninuria (glutathioninuria (gamma-glutamyltranspeptidase deficiency)), OMIM:231950)

Official abbreviation glutathioninuria
Name glutathioninuria (gamma-glutamyltranspeptidase deficiency)
OMIM ID 231950
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GGT1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

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00144461 - PubMed: Darin 2018, Journal: Darin 2018 - M ? Sweden Turkish ancestry >15y 0 - - glutathioninuria - GGT1 GGT1 1 2 Jorge Asin Cayuela
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