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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 chr 2:86,905,104...86,933,780 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15628
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 7138
        connective tissue disease 5437
          homocystinuria 87
            Homocystinuria, Pyridoxine-Responsive 1
Path 2
Term Annotations click to browse term
  disease 15628
    Nutritional and Metabolic Diseases 7464
      disease of metabolism 7464
        acquired metabolic disease 2239
          nutrition disease 817
            Malnutrition 263
              nutritional deficiency disease 244
                Avitaminosis 203
                  Vitamin B Deficiency 153
                    hyperhomocysteinemia 120
                      homocystinuria 87
                        Homocystinuria, Pyridoxine-Responsive 1
paths to the root