FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ID (Ontology) DOID:0081321 (Human Disease)
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.
Also Known As "Autosomal dominant multiple pterygium syndrome"
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 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A       1
 for disease ribbon | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A       1
 model of | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A       1
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monogenic disease
 |__contractures, pterygia, and spondylocarpotarsal fusion syndrome__
autosomal genetic disease                                            |
 |__autosomal dominant disease_______________________________________|
syndrome                                                             |
 |__contractures, pterygia, and spondylocarpotarsal fusion syndrome__|
skin disease                                                         |
 |__contractures, pterygia, and spondylocarpotarsal fusion syndrome__|
                                                                     contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A  1 rec.
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Is a autosomal dominant disease
contractures, pterygia, and spondylocarpotarsal fusion syndrome
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Synonyms
  • "Autosomal dominant multiple pterygium syndrome" EXACT
Secondary IDs
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MIM:178110
ORDO:65743