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Oculoskeletodental Syndrome - Ontology Report - Rat Genome Database

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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;   PIK3C2A-RELATED CONDITION
 primary_id: MIM:618440

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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: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES | ClinVar Annotator: match by term: PIK3C2A-related condition 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Stomatognathic Diseases 1374
      Stomatognathic System Abnormalities 597
        Tooth Abnormalities 299
          Oculoskeletodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7372
            eye disease 3728
              lens disease 559
                cataract 548
                  Oculoskeletodental Syndrome 1
paths to the root