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ONTOLOGY REPORT - ANNOTATIONS


Term:SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
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Accession:DOID:9002016 term browser browse the term
Definition:A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles.
Synonyms:exact_synonym: SEMDDR;   spondyloepimetaphyseal dysplasia of the Di Rocco type
 primary_id: OMIM:617974
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SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          spondyloepimetaphyseal dysplasia 73
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Skin and Connective Tissue Diseases 4232
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                spondyloepimetaphyseal dysplasia 73
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.