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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:Oculoskeletodental Syndrome
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Accession:DOID:9006582 term browser browse the term
Synonyms:exact_synonym: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES;   OCSKD
 primary_id: OMIM:618440
For additional species annotation, visit the Alliance of Genome Resources.



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Oculoskeletodental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Stomatognathic Diseases 1148
      Stomatognathic System Abnormalities 420
        Tooth Abnormalities 154
          Oculoskeletodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                Oculoskeletodental Syndrome 1
paths to the root