Search Ontology:
Human Disease

distal arthrogryposis type 5

Term ID
DOID:0111608
Synonyms
  • arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
  • DA5
  • DAIIB
  • distal arthrogryposis type IIB
  • distal arthrogryposis with ophthalmoplegia
  • oculomelic amyoplasia
Definition
A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (2)
References
Ontology
Human Disease   ( DOID:0111608 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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