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ONTOLOGY REPORT - ANNOTATIONS


Term:spondylocarpotarsal synostosis syndrome
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Accession:DOID:0090116 term browser browse the term
Definition:A bone development disease that is 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, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (DO)
Synonyms:exact_synonym: SCT;   SCT syndrome;   congenital scoliosis with unilateral unsegmented bar;   congenital synspondylism;   spondylocarpotarsal syndrome;   spondylocarpotarsal synostosis;   vertebral fusion with carpal coalition
 broad_synonym: FLNB-related spectrum disorder
 primary_id: MESH:C535780
 alt_id: OMIM:272460
 xref: GARD:4974;   ICD10CM:Q76.4;   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
RGD:8554872
RGD:11554173
RGD:12791028
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      spondylocarpotarsal synostosis syndrome 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Skin and Connective Tissue Diseases 5356
        connective tissue disease 3992
          bone disease 3456
            spinal disease 1439
              bone structure disease 82
                Spinal Curvatures 53
                  scoliosis 40
                    spondylocarpotarsal synostosis syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.