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DOID:0081322 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Disease Ontology Definition:A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.
Synonyms: Autosomal recessive multiple pterygium syndrome,
Xenbase Genes
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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),
contractures, pterygia, and spondylocarpotarsal fusion syndrome (is_a)