Search Ontology:
Human Disease

congenital contractural arachnodactyly

Term ID
DOID:0111595
Synonyms
  • arachnodactyly, contractural Beals type
  • Beals syndrome
  • Beals-Hecht syndrome
  • CCA
  • contractures, multiple with arachnodactyly
  • distal arthrogryposis type 9
  • ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Definition
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (3)
References
Ontology
Human Disease   ( DOID:0111595 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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