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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



show annotations for term's descendants           Sort by:
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 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 21128
    Stomatognathic Diseases 1341
      Stomatognathic System Abnormalities 574
        Tooth Abnormalities 282
          Oculoskeletodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              lens disease 456
                cataract 446
                  Oculoskeletodental Syndrome 1
paths to the root