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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 16023
    syndrome 7003
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Maxillofacial Abnormalities 248
                Jaw Abnormalities 236
                  Micrognathism 48
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.