ONTOLOGY REPORT - ANNOTATIONS


Term:Stuve-Wiedemann Syndrome
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Accession:DOID:9008909 term browser browse the term
Synonyms:exact_synonym: SJS2;   STWS;   SWS;   Schwartz Jampel syndrome neonatal;   Schwartz Jampel type 2 syndrome;   Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome
 primary_id: MESH:C537502;   RDO:0003352
 alt_id: OMIM:601559
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Stuve-Wiedemann Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872
G Lifr LIF receptor alpha JBrowse link 2 56,424,910 56,489,346 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Stuve-Wiedemann Syndrome 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      Stuve-Wiedemann Syndrome 2
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.