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DOID:0090116 - spondylocarpotarsal synostosis syndrome
Disease Ontology 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.
Synonyms: congenital scoliosis with unilateral unsegmented bar , congenital synspondylism, SCT, spondylocarpotarsal syndrome, spondylocarpotarsal synostosis, vertebral fusion with carpal coalition
Xenbase Genes
:
flnb,
myh3
| MONDO:0010094 - spondylocarpotarsal synostosis syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
bone development disease (is_a),
spinal disease (is_a)