Term Name:	distal arthrogryposis type 5D
Synonyms:	DA5D, distal arthrogryposis type 5 without ophthalmoparesis, distal arthrogryposis type 5 without ophthalmoplegia
Definition:	A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.
Ontology:	Human Disease [DOID:0111594]   ( DOID:0111594 )