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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:Taurodontism, Microdontia, and Dens Invaginatus
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Accession:DOID:9004617 term browser browse the term
Synonyms:exact_synonym: TMDI
 broad_synonym: KIF4A-RELATED CONDITION
 primary_id: MESH:C536947
 alt_id: MIM:313490


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Taurodontism, Microdontia, and Dens Invaginatus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus OMIM
ClinVar		 PMID:271276 PMID:25741868 PMID:28492532 PMID:31616463 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Stomatognathic Diseases 1368
      Stomatognathic System Abnormalities 591
        Tooth Abnormalities 297
          Taurodontism, Microdontia, and Dens Invaginatus 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            mouth disease 1039
              tooth disease 465
                Tooth Abnormalities 297
                  Taurodontism 1
                    Taurodontism, Microdontia, and Dens Invaginatus 1
paths to the root