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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 ClinVar
OMIM
PMID:28198391 NCBI chr19:14,523,482...14,561,281
Ensembl chr19:14,523,554...14,561,278
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Musculoskeletal Abnormalities 1677
            Craniofacial Abnormalities 1408
              Maxillofacial Abnormalities 235
                Jaw Abnormalities 223
                  Micrognathism 47
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 8 1
paths to the root