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Metadata
ID	DOID:0081321
Name	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
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. https://pubmed.ncbi.nlm.nih.gov/29805041/
Xrefs	MIM:178110 ORDO:65743
Subsets	DO_rare_slim
Synonyms	Autosomal dominant multiple pterygium syndrome [EXACT]
Parent Relationships	is_a contractures, pterygia, and spondylocarpotarsal fusion syndrome is_a autosomal dominant disease