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Human Disease

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Term ID
DOID:0081321
Synonyms
  • Autosomal dominant 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, 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/
References
Ontology
Human Disease   ( DOID:0081321 )
Relationships
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Genes Involved
Zebrafish Models