contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: myh3

Other Model Organisms: AGR, 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)