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Accession:DOID:0090142 term browser browse the term
Definition:An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: Gamma-Cystathionase Deficiency;   cystathionase deficiency;   cystathione gamma-lyase deficiency syndrome
 primary_id: MESH:C535408;   MESH:C562680
 alt_id: DOID:9005829;   OMIM:219500;   RDO:0000509;   RDO:0012286
 xref: GARD:2428;   ORDO:212
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cystathioninuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Malabsorption Syndromes 90
        hyperhomocysteinemia 49
          cystathioninuria 1
Path 2
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        acquired metabolic disease 2671
          nutrition disease 832
            Malnutrition 182
              nutritional deficiency disease 175
                Avitaminosis 114
                  Vitamin B Deficiency 70
                    hyperhomocysteinemia 49
                      cystathioninuria 1
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