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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: OMIM:125420
 alt_id: RDO:0007950
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004936905:458,062...463,359
Ensembl chrNW_004936905:458,298...463,346
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13841
    Stomatognathic Diseases 1106
      tooth disease 289
        dental pulp disease 9
          dental pulp calcification 1
            Dentin Dysplasia, Type 2 1
Path 2
Term Annotations click to browse term
  disease 13841
    disease of anatomical entity 13565
      nervous system disease 11574
        sensory system disease 5839
          mouth disease 798
            tooth disease 289
              teeth hard tissue disease 65
                dentin dysplasia 3
                  Dentin Dysplasia, Type 2 1
paths to the root