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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 2
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Accession:DOID:9008389 term browser browse the term
Synonyms:exact_synonym: DTDP2;   coronal dentin dysplasia;   dentin dysplasia, Shields type 2;   dentin dysplasia, Shields type II;   dentin dysplasia, type II
 primary_id: MIM:125420
 alt_id: RDO:0007950


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Dentin Dysplasia, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Stomatognathic Diseases 1374
      tooth disease 466
        dental pulp disease 10
          dental pulp calcification 1
            Dentin Dysplasia, Type 2 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            mouth disease 1044
              tooth disease 466
                Tooth Abnormalities 298
                  dentin dysplasia 3
                    Dentin Dysplasia, Type 2 1
paths to the root