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DOID:0081321 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Disease Ontology Definition:A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.
Synonyms: Autosomal dominant multiple pterygium syndrome
Xenbase Genes
:
myh3
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
contractures, pterygia, and spondylocarpotarsal fusion syndrome (is_a)