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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:Meier-Gorlin syndrome 5
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Accession:DOID:0080516 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: MGORS5
 primary_id: OMIM:613805


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Meier-Gorlin syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Musculoskeletal Abnormalities 3303
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  Micrognathism 53
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 5 1
paths to the root