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Term:spondyloepimetaphyseal dysplasia, Pakistani type
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Accession:DOID:0050812 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)
Synonyms:exact_synonym: BCYM4;   SEMD, Pakistani type;   brachyolmia type 4 with mild epiphyseal and metaphyseal changes;   spondylodysplasia and premature pubarche
 primary_id: MESH:C567551;   MESH:C567552
 alt_id: OMIM:612847;   RDO:0015600;   RDO:0015601
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spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Pathologic Processes 5078
        Growth Disorders 246
          spondyloepimetaphyseal dysplasia, Pakistani type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                spondyloepimetaphyseal dysplasia 71
                  spondyloepimetaphyseal dysplasia, Pakistani 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.