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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 OMIM
ClinVar
PMID:22152679 PMID:23317772 PMID:25741868 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 18156
    Stomatognathic Diseases 1190
      tooth disease 316
        teeth hard tissue disease 72
          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 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          mouth disease 867
            tooth disease 316
              Tooth Abnormalities 174
                dentin dysplasia 3
                  Dentin Dysplasia with Sclerotic Bones 0
                  Dentin Dysplasia, Type 1 1
                  Dentin Dysplasia, Type 2 1
paths to the root