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ONTOLOGY REPORT - ANNOTATIONS


Term:Ehlers-Danlos Syndrome, Musculocontractural Type 2
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Accession:DOID:9003768 term browser browse the term
Synonyms:exact_synonym: EDSMC2
 primary_id: OMIM:615539;   RDO:9000985
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Adducted Thumbs Syndrome 2
        Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Musculoskeletal Abnormalities 1302
            Congenital Limb Deformities 409
              Lower Extremity Deformities, Congenital 76
                Congenital Foot Deformities 68
                  Talipes 41
                    clubfoot 31
                      Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.