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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:spondyloepiphyseal dysplasia with congenital joint dislocations
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Accession:EFO:MONDO:0007738 term browser browse the term
Definition:CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Synonyms:exact_synonym: CHST3-related skeletal dysplasia;   Humerospinal dysostosis;   Kozlowski Celermajer tink syndrome;   Omani type;   SDCD, CHST3 type;   chondrodysplasia with congenital joint dislocations, CHST3 type;   chondrodysplasia with multiple dislocations;   humero-spinal dysostosis with congenital heart disease;   spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
 broad_synonym: spondyloepiphyseal dysplasia
 related_synonym: Gollop Coates syndrome;   SEDCJD;   bifurcation of distal humerus with oligoectro-syndactyly;   spondyloepiphyseal dysplasia, Omani type
 alt_id: MONDO:0007738
 xref: DOID:0050813;   GARD:13169;   ICD9:756.9;   MEDGEN:373381;   MESH:C537283;   MIM:143095;   ORDO:263463;   SCTID:702400006;   UMLS:C1837657
 see_also: https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome" xsd:anyURI {source="GARD:0002533


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            mineral metabolism disease 0
              spondyloepiphyseal dysplasia with congenital joint dislocations 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  osteochondrodysplasia 0
                    spondyloepiphyseal dysplasia 0
                      spondyloepiphyseal dysplasia with congenital joint dislocations 0
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