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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: OMIM:219500
 xref: GARD:2428;   ICD10CM:E72.19;   NCI:C129070;   ORDO:212


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cystathioninuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO
ISS		 ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency
CTD Direct Evidence: marker/mechanism
OMIM:219500		 OMIM
ClinVar
CTD
MouseDO		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Malabsorption Syndromes 214
        hyperhomocysteinemia 126
          cystathioninuria 1
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          nutrition disease 1022
            Malnutrition 273
              nutritional deficiency disease 256
                Avitaminosis 216
                  Vitamin B Deficiency 156
                    hyperhomocysteinemia 126
                      cystathioninuria 1
paths to the root