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Metadata
ID	DOID:0081322
Name	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
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. https://pubmed.ncbi.nlm.nih.gov/29805041/
Xrefs	GARD:7111 MIM:618469 ORDO:2990
Subsets	DO_rare_slim
Synonyms	Autosomal recessive multiple pterygium syndrome [EXACT]
Parent Relationships	is_a contractures, pterygia, and spondylocarpotarsal fusion syndrome is_a autosomal recessive disease