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Summary Literature (0)
DOID:0090142 - cystathioninuria

Disease Ontology Definition:An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.

Synonyms: cystathionase deficiency, cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency

Xenbase Genes : cth

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009058 - cystathioninuria

MIM:
MIM:219500 - CYSTATHIONINURIA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)