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Namespace Prefixes

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Statements

Subject Item
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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.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/29566257 url:https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome url:https://www.omim.org/entry/272460