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ONTOLOGY REPORT - ANNOTATIONS


Term:cystathioninuria
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Accession:DOID:0090142 term browser browse the term
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. (DO)
Synonyms:exact_synonym: cystathionase deficiency;   cystathione gamma-lyase deficiency syndrome;   gamma-cystathionase deficiency
 primary_id: MESH:C535408;   MESH:C562680
 alt_id: DOID:9005829;   OMIM:219500;   RDO:0000509;   RDO:0012286
 xref: GARD:2428;   NCI:C129070;   ORDO:212
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Malabsorption Syndromes 114
        hyperhomocysteinemia 44
          cystathioninuria 1
Path 2
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2700
          nutrition disease 845
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin B Deficiency 64
                    hyperhomocysteinemia 44
                      cystathioninuria 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.