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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 chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Stomatognathic Diseases 1301
      tooth disease 433
        dentinogenesis imperfecta 17
          Odontochondrodysplasia 2
            Odontochondrodysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            mouth disease 978
              tooth disease 433
                Tooth Abnormalities 281
                  dentinogenesis imperfecta 17
                    Odontochondrodysplasia 2
                      Odontochondrodysplasia 1 1
paths to the root