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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
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Accession:DOID:701 term browser browse the term
Definition:A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. (DO)
Synonyms:exact_synonym: anomalous dysplasia of dentin;   dentin dysplasias;   dentinal dysplasia
 primary_id: MESH:D003805
 xref: ORDO:1635
For additional species annotation, visit the Alliance of Genome Resources.


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dentin dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11116156 RGD:734904 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
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 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
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
        teeth hard tissue disease 121
          dentin dysplasia 3
            Dentin Dysplasia with Sclerotic Bones 0
            Dentin Dysplasia, Type 1 1
            Dentin Dysplasia, Type 2 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            mouth disease 1044
              tooth disease 466
                Tooth Abnormalities 298
                  dentin dysplasia 3
                    Dentin Dysplasia with Sclerotic Bones 0
                    Dentin Dysplasia, Type 1 1
                    Dentin Dysplasia, Type 2 1
paths to the root