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Term:Meckel syndrome 4
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Accession:DOID:0070118 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: CEP290-RELATED DISORDER;   MKS4;   Meckel syndrome type 4;   Meckel-Gruber Syndrome, Type 4
 primary_id: MESH:C567003
 alt_id: DOID:9003069;   OMIM:611134;   RDO:0015193
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Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15502
    physical disorder 762
      polydactyly 116
        Meckel syndrome 4 1
Path 2
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  disease 15502
    disease of anatomical entity 14856
      Urogenital Diseases 3988
        Female Urogenital Diseases and Pregnancy Complications 1768
          Female Urogenital Diseases 1477
            female reproductive system disease 1473
              prolapse of female genital organ 152
                enterocele 152
                  Encephalocele 15
                    Meckel syndrome 4 1
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