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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:Homocystinuria, Pyridoxine-Responsive
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Accession:DOID:9003619 term browser browse the term
Synonyms:primary_id: MESH:C565513;   RDO:0014127


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Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          homocystinuria 89
            Homocystinuria, Pyridoxine-Responsive 1
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          nutrition disease 1089
            Malnutrition 344
              nutritional deficiency disease 328
                Avitaminosis 218
                  Vitamin B Deficiency 156
                    hyperhomocysteinemia 126
                      homocystinuria 89
                        Homocystinuria, Pyridoxine-Responsive 1
paths to the root