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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:Selective Tooth Agenesis, X-Linked, 1
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Accession:DOID:9000986 term browser browse the term
Synonyms:exact_synonym: Hypodontia-Oligodontia, X-Linked, 1;   STHAGX1
 primary_id: MESH:C567060
 alt_id: OMIM:313500;   RDO:0015238
For additional species annotation, visit the Alliance of Genome Resources.


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Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by OMIM:313500
ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1
OMIM
ClinVar
PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 PMID:19278982 PMID:19623212 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:27657131 PMID:28492532 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Stomatognathic Diseases 966
      Stomatognathic System Abnormalities 365
        Tooth Abnormalities 145
          tooth agenesis 16
            Selective Tooth Agenesis, X-Linked, 1 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          mouth disease 747
            tooth disease 282
              Tooth Abnormalities 145
                tooth agenesis 16
                  Selective Tooth Agenesis, X-Linked, 1 1
paths to the root