OBO ID: DOID:0111607
Term Name: distal arthrogryposis type 3 Search Ontology:
Synonyms:
  • camptodactyly-cleft palate-clubfoot syndrome
  • DA3
  • distal arthrogryposis multiplex congenita type IIA
  • Gordon syndrome
Definition: A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21. (2)
References:
Ontology: Human Disease   (DOID:0111607)
OTHER distal arthrogryposis type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIEZO2 Arthrogryposis, distal, type 3 114300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None