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DO Term : gamma-glutamyl transpeptidase deficiency [DOID:0111257] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.

synonyms:
GGT1 deficiency,
MESH:C536836,
gamma-glutamyl transferase deficiency,
GARD:10099,
231950,
GTG deficiency,
ORDO:33573,
GGT deficiency,
glutathionuria,
UMLS_CUI:C0268524,
SNOMEDCT_US_2023_03_01:78586005,
OMIM:231950

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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