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DO Term : congenital nonspherocytic hemolytic anemia 7 [DOID:0111681] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1.

synonyms:
OMIM:230450,
230450,
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency,
UMLS_CUI:C1856603,
gamma-glutamylcysteine synthetase deficiency,
MESH:C565557,
ORDO:33574

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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