OBO ID: DOID:0111608
Term Name: distal arthrogryposis type 5 Search Ontology:
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 PIEZO2 on chromosome 18p11.22-p11.21. (2)
References:
Ontology: Human Disease   (DOID:0111608)
OTHER distal arthrogryposis type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIEZO2 Arthrogryposis, distal, type 5 108145
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None