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contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Summary
- Synonym
-
- Autosomal recessive multiple pterygium syndrome
- 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.
- Super Class
- autosomal recessive disease contractures, pterygia, and spondylocarpotarsal fusion syndrome
External Links
- Disease Ontology
- DOID:0081322
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
