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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


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Odontoonychodermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Odontoonychodermal dysplasia		 OMIM
CTD
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 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:16199547 PMID:17576681 PMID:21070929 PMID:24686847 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 Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 5:55,321,351...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 19100
    Stomatognathic Diseases 1368
      Stomatognathic System Abnormalities 591
        Tooth Abnormalities 297
          Odontodysplasia 3
            Odontoonychodermal Dysplasia 1
            Singleton Merten Syndrome + 2
            Trichodental Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11183
        Neurologic Manifestations 10419
          sensory system disease 7329
            mouth disease 1039
              tooth disease 465
                Tooth Abnormalities 297
                  Odontodysplasia 3
                    Odontoonychodermal Dysplasia 1
                    Singleton Merten Syndrome + 2
                    Trichodental Syndrome 0
paths to the root