Search Ontology:
Human Disease

distal arthrogryposis type 3

Term ID
DOID:0111607
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 the PIEZO2 gene on chromosome 18p11.22-p11.21. (2)
References
Ontology
Human Disease   ( DOID:0111607 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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