Term:spondylocarpotarsal synostosis syndrome
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Accession:DOID:0090116 term browser browse the term
Definition:A bone development disease characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism that has_material_basis_in mutation in the FLNB gene on chromosome 3p14.3. (DO)
Synonyms:exact_synonym: Congenital Synspondylism;   FLNB-RELATED SPECTRUM DISORDER;   SCT;   SCT Syndrome;   Spondylocarpotarsal Syndrome;   congenital scoliosis with unilateral unsegmented bar;   spondylocarpotarsal synostosis;   vertebral fusion with carpal coalition
 primary_id: MESH:C535780
 alt_id: OMIM:272460;   RDO:0001083
 xref: GARD:4974;   ORDO:3275
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spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      spondylocarpotarsal synostosis syndrome 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  spondylocarpotarsal synostosis syndrome 2
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