Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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: OCULOSKELETODENTAL SYNDROME OMIM
ClinVar
PMID:25741868, PMID:31034465 NCBI chr 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Stomatognathic Diseases 1001
      Stomatognathic System Abnormalities 382
        Tooth Abnormalities 150
          Oculoskeletodental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          mouth disease 770
            tooth disease 283
              Tooth Abnormalities 150
                Oculoskeletodental Syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.