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ONTOLOGY REPORT - ANNOTATIONS


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
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Meier-Gorlin syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm5 minichromosome maintenance complex component 5 JBrowse link 19 14,523,482 14,561,281 RGD:8554872
RGD:7240710

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  disease 15620
    syndrome 5159
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 8 1
Path 2
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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  Micrognathism 38
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.