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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 IAGP ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22373
    Stomatognathic Diseases 1240
      tooth disease 335
        dental pulp disease 10
          dental pulp calcification 1
            Dentin Dysplasia, Type 2 1
Path 2
Term Annotations click to browse term
  disease 22373
    disease of anatomical entity 20910
      nervous system disease 16734
        sensory system disease 7353
          mouth disease 899
            tooth disease 335
              teeth hard tissue disease 74
                dentin dysplasia 3
                  Dentin Dysplasia, Type 2 1
paths to the root