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Adams-Oliver Syndrome 3 - 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:Adams-Oliver Syndrome 3
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Accession:DOID:9006275 term browser browse the term
Synonyms:exact_synonym: AOS3;   RBPJ-RELATED CONDITION
 primary_id: MIM:614814

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Adams-Oliver Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 | ClinVar Annotator: match by term: RBPJ-related condition OMIM
ClinVar		 PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Adams-Oliver syndrome 90
        Adams-Oliver Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Skin Abnormalities 1325
                ectodermal dysplasia 553
                  Adams-Oliver syndrome 90
                    Adams-Oliver Syndrome 3 1
paths to the root