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| Term | spondylocarpotarsal synostosis syndrome | ID (Ontology) | DOID:0090116 (Human Disease) |
| 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. | ||
| Also Known As | "congenital scoliosis with unilateral unsegmented bar" ; "congenital synspondylism" ; "SCT" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ bone disease | |__spinal disease_______________| |__bone development disease_____| spondylocarpotarsal synostosis syndrome 3 rec. |
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autosomal recessive disease spinal disease bone development disease |
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GARD:4974 ICD10CM:Q76.4 MIM:272460 ORDO:3275 |
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