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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 19142
    Stomatognathic Diseases 1377
      Stomatognathic System Abnormalities 599
        Tooth Abnormalities 300
          Oculoskeletodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  Oculoskeletodental Syndrome 1
paths to the root