|OBO ID: DOID:0090142|
|Term Name:||cystathioninuria||Search 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. (2)|
|Ontology:||Human Disease (DOID:0090142)|
|is a type of:||
OTHER cystathioninuria PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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