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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:Odontochondrodysplasia 1
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Accession:DOID:9003459 term browser browse the term
Synonyms:exact_synonym: Goldblatt syndrome;   ODCD1;   spondylometaphyseal dysplasia with dentinogenesis imperfecta
 primary_id: MESH:C535792
 alt_id: OMIM:184260


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Odontochondrodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Goldblatt syndrome OMIM
ClinVar		 PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More... NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Stomatognathic Diseases 1341
      tooth disease 443
        dentinogenesis imperfecta 17
          Odontochondrodysplasia 2
            Odontochondrodysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            mouth disease 1012
              tooth disease 443
                Tooth Abnormalities 282
                  dentinogenesis imperfecta 17
                    Odontochondrodysplasia 2
                      Odontochondrodysplasia 1 1
paths to the root