Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 15609
    syndrome 5791
      Ehlers-Danlos syndrome 86
        EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      Skin and Connective Tissue Diseases 5231
        connective tissue disease 3934
          bone disease 3431
            spinal disease 1434
              bone structure disease 83
                Spinal Curvatures 55
                  scoliosis 42
                    Kyphoscoliosis 5
                      EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
paths to the root

NHLBI Logo

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