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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Stomatognathic Diseases 1197
      tooth disease 320
        teeth hard tissue disease 73
          dentin dysplasia 3
            Dentin Dysplasia, Type 1 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            mouth disease 874
              tooth disease 320
                Tooth Abnormalities 178
                  dentin dysplasia 3
                    Dentin Dysplasia, Type 1 1
paths to the root