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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;   Odontodysplasias;   Odontogenesis Imperfecta;   Odontogenic Dysplasia;   Odontogenic Dysplasias
 primary_id: MESH:D018126;   RDO:0002167
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:257980
ClinVar Annotator: match by term: Odontoonychodermal dysplasia
OMIM
ClinVar
PMID:17847007, PMID:19471313, PMID:19559398, PMID:20163410, PMID:20979233, PMID:21143469, PMID:21484994, PMID:21834823, PMID:22581971, PMID:22670871, PMID:23167694, PMID:23401279, PMID:23991204, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24458874, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:26087098, PMID:28105635, PMID:28492532, PMID:28589954, PMID:28976000, PMID:28981473, PMID:30311386, PMID:30426266, PMID:30569517, PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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:21070929, PMID:24686847, PMID:24995871, PMID:25620204, PMID:25741868, PMID:28319323, PMID:28492532, PMID:29270977, PMID:30311386, PMID:30707351 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Stomatognathic Diseases 976
      tooth disease 279
        Tooth Abnormalities 148
          Odontodysplasia 3
            Odontoonychodermal Dysplasia 1
            Singleton Merten Syndrome + 2
            Trichodental Syndrome 0
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
                Odontodysplasia 3
                  Odontoonychodermal Dysplasia 1
                  Singleton Merten Syndrome + 2
                  Trichodental Syndrome 0
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.