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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:An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed)
Synonyms:exact_synonym: anomalous dysplasia of dentin;   dentin dysplasias;   dentinal dysplasia
 primary_id: MESH:D003805
 alt_id: RDO:0004160
 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
ISS
mRNA:decreased expression:incisor, molar (mouse)
OMIM:125400 | OMIM:125420
MouseDO PMID:11116156 RGD:734904 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 1:56,242,289...56,374,106
Ensembl chr 1:56,242,346...56,374,120
JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
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, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
ClinVar
OMIM
PMID:22152679, PMID:23317772 NCBI chr 1:56,242,289...56,374,106
Ensembl chr 1:56,242,346...56,374,120
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 OMIM NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Stomatognathic Diseases 976
      tooth disease 279
        teeth hard tissue disease 63
          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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                dentin dysplasia 3
                  Dentin Dysplasia with Sclerotic Bones 0
                  Dentin Dysplasia, Type 1 1
                  Dentin Dysplasia, Type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.