ONTOLOGY REPORT - ANNOTATIONS


Term:spondylocarpotarsal synostosis syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 14875
    syndrome 4220
      spondylocarpotarsal synostosis syndrome 2
Path 2
Term Annotations click to browse term
  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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.