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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.


show annotations for term's descendants           Sort by:
 
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Stomatognathic Diseases 981
      Stomatognathic System Abnormalities 371
        Tooth Abnormalities 148
          tooth agenesis 16
            Selective Tooth Agenesis, X-Linked, 1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                tooth agenesis 16
                  Selective Tooth Agenesis, X-Linked, 1 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.