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Homocystinuria, Pyridoxine-Responsive - Ontology Report - Rat Genome Database

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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 chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      Skin and Connective Tissue Diseases 7062
        connective tissue disease 5386
          homocystinuria 86
            Homocystinuria, Pyridoxine-Responsive 1
Path 2
Term Annotations click to browse term
  disease 15438
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        acquired metabolic disease 2276
          nutrition disease 819
            Malnutrition 261
              nutritional deficiency disease 243
                Avitaminosis 199
                  Vitamin B Deficiency 153
                    hyperhomocysteinemia 121
                      homocystinuria 86
                        Homocystinuria, Pyridoxine-Responsive 1
paths to the root