ONTOLOGY REPORT - ANNOTATIONS


Term:EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
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Accession:DOID:9006296 term browser browse the term
Synonyms:exact_synonym: EDSKMH;   EDSKSCL2;   Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
 primary_id: OMIM:614557;   RDO:9000285
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EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      Ehlers-Danlos syndrome 38
        EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            spinal disease 135
              Spinal Curvatures 51
                scoliosis 38
                  Kyphoscoliosis 5
                    EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.