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About: spondylocarpotarsal synostosis syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • spondylocarpotarsal synostosis syndrome
described by
id
  • DOID:0090116
database_cross_reference
  • GARD:4974
  • ICD10CM:Q76.4
  • OMIM:272460
  • ORDO:3275
has_exact_synonym
  • congenital scoliosis with unilateral unsegmented bar (en)
  • SCT (en)
  • congenital synspondylism (en)
  • spondylocarpotarsal syndrome (en)
  • spondylocarpotarsal synostosis (en)
  • vertebral fusion with carpal coalition (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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