ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Growth Disorders 236
          spondyloepimetaphyseal dysplasia, Pakistani type 1
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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
                spondyloepimetaphyseal dysplasia 58
                  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.