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Disease Ontology Browser
spondylocarpotarsal synostosis syndrome (DOID:0090116)
Alliance: disease page
Synonyms: congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; SCT; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis; vertebral fusion with carpal coalition
Alt IDs: OMIM:272460, ICD10CM:Q76.4, ORDO:3275
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory