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contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (DOID:0081322)
Alliance: disease page
Synonyms: Autosomal recessive multiple pterygium syndrome
Alt IDs: OMIM:618469, ORDO:2990
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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