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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondyloepiphyseal Dysplasia, Stanescu Type
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Accession:DOID:9004463 term browser browse the term
Definition:Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes. Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. (OMIM)
Synonyms:exact_synonym: SED, STANESCU TYPE;   SEDSTN;   Stanescu type of spondyloepiphyseal dysplasia
 primary_id: OMIM:616583
 alt_id: RDO:9001575
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Spondyloepiphyseal Dysplasia, Stanescu Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          Spondyloepiphyseal Dysplasia, Stanescu Type 2
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
                Spondyloepiphyseal Dysplasia, Stanescu Type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.