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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 4
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Accession:DOID:9002329 term browser browse the term
Synonyms:exact_synonym: AOS4
 primary_id: OMIM:615297


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Adams-Oliver Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 More... NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Adams-Oliver syndrome 90
        Adams-Oliver Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Skin Abnormalities 1298
                ectodermal dysplasia 542
                  Adams-Oliver syndrome 90
                    Adams-Oliver Syndrome 4 1
paths to the root