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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: MIM: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 chrNW_004936490:15,360,477...15,370,519
Ensembl chrNW_004936490:15,360,504...15,370,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14501
    syndrome 9550
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 14501
    Developmental Disease 12602
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11795
        Congenital Abnormalities 7080
          Musculoskeletal Abnormalities 3150
            Craniofacial Abnormalities 2547
              Maxillofacial Abnormalities 301
                Jaw Abnormalities 257
                  Micrognathism 52
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 5 1
paths to the root