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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by OMIM:272460
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
OMIM
ClinVar
CTD
PMID:14991055, PMID:18257094, PMID:18322662, PMID:18386804, PMID:25741868, PMID:26380986, PMID:29566257, PMID:17635842 RGD:12791028 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar
ClinVar PMID:25741868, PMID:29805041, PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      spondylocarpotarsal synostosis syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            spinal disease 1459
              bone structure disease 102
                Spinal Curvatures 74
                  scoliosis 60
                    spondylocarpotarsal synostosis syndrome 2
paths to the root

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