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ONTOLOGY REPORT - ANNOTATIONS


Term:Meier-Gorlin syndrome 6
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Accession:DOID:0080517 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: MGORS6
 primary_id: OMIM:616835
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Meier-Gorlin syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:7240710

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  disease 15599
    syndrome 5135
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 6 1
Path 2
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  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        Congenital Abnormalities 3579
          Musculoskeletal Abnormalities 1296
            Craniofacial Abnormalities 1040
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  Micrognathism 38
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.