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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Craniofacial Abnormalities 1480
              Maxillofacial Abnormalities 250
                Jaw Abnormalities 238
                  Micrognathism 48
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 5 1
paths to the root