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ONTOLOGY REPORT - ANNOTATIONS


Term:Meier-Gorlin syndrome 1
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Accession:DOID:0080512 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)
Synonyms:exact_synonym: MGORS1
 primary_id: OMIM:224690
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Meier-Gorlin syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:7240710

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  disease 15599
    syndrome 5135
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 1 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 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.