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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:Odontodysplasia
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Accession:DOID:9001034 term browser browse the term
Definition:A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)
Synonyms:exact_synonym: Ghost Teeth;   Ghost Tooth;   Odontogenesis Imperfecta;   Odontogenic Dysplasia;   odontodysplasias;   odontogenic dysplasias
 primary_id: MESH:D018126
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Odontoonychodermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by OMIM:257980
ClinVar Annotator: match by term: Odontoonychodermal dysplasia
OMIM
ClinVar
PMID:2897600 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Stomatognathic Diseases 1009
      tooth disease 299
        Tooth Abnormalities 155
          Odontodysplasia 3
            Odontoonychodermal Dysplasia 1
            Singleton Merten Syndrome + 2
            Trichodental Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          mouth disease 784
            tooth disease 299
              Tooth Abnormalities 155
                Odontodysplasia 3
                  Odontoonychodermal Dysplasia 1
                  Singleton Merten Syndrome + 2
                  Trichodental Syndrome 0
paths to the root