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RGD uses the Human Disease Ontology (DO, 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 8
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Accession:DOID:0080255 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: MGORS8
 primary_id: OMIM:617564
For additional species annotation, visit the Alliance of Genome Resources.

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Meier-Gorlin syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 8
ClinVar Annotator: match by term: Meier-Gorlin syndrome 8
PMID:25741868 PMID:28198391 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Craniofacial Abnormalities 1964
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  Micrognathism 50
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 8 1
paths to the root