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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;   SMOC2-RELATED CONDITION;   dentin dysplasia type I, with extreme microdontia and misshapen teeth;   radicular dentin dysplasia;   rootless teeth
 alt_id: DOID:9003147
 xref: MESH:C538215;   MESH:C564144;   MIM:125400;   MONDO:0007436


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth | ClinVar Annotator: match by term: SMOC2-related condition		 OMIM
CTD
ClinVar		 PMID:22152679 PMID:23317772 PMID:25741868 PMID:28492532 NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Stomatognathic Diseases 1374
      tooth disease 466
        teeth hard tissue disease 121
          dentin dysplasia 3
            Dentin Dysplasia, Type 1 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            mouth disease 1044
              tooth disease 466
                Tooth Abnormalities 298
                  dentin dysplasia 3
                    Dentin Dysplasia, Type 1 1
paths to the root