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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 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 OMIM
ClinVar
PMID:25741868 PMID:28198391 PMID:28492532 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 18246
    syndrome 9798
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        Congenital Abnormalities 6823
          Musculoskeletal Abnormalities 2832
            Craniofacial Abnormalities 2394
              Maxillofacial Abnormalities 289
                Jaw Abnormalities 243
                  Micrognathism 51
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 8 1
paths to the root