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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:Dentin Dysplasia, Type 1
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Accession:DOID:9003504 term browser browse the term
Synonyms:exact_synonym: DENTIN DYSPLASIA, SHIELDS TYPE I;   DTDP1;   Dentin Dysplasia, Type I;   Hypoplasia of Teeth Roots;   dentin dysplasia type I, with extreme microdontia and misshapen teeth;   radicular dentin dysplasia;   rootless teeth
 primary_id: MESH:C538215
 alt_id: DOID:9003147;   MESH:C564144;   OMIM:125400


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Dentin Dysplasia, Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc2 SPARC related modular calcium binding 2 ISO ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr17:14,499,768...14,625,052
Ensembl chr17:14,499,768...14,625,052 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Stomatognathic Diseases 1328
      tooth disease 439
        teeth hard tissue disease 114
          dentin dysplasia 3
            Dentin Dysplasia, Type 1 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          sensory system disease 6744
            mouth disease 1001
              tooth disease 439
                Tooth Abnormalities 281
                  dentin dysplasia 3
                    Dentin Dysplasia, Type 1 1
paths to the root