Term Name: distal arthrogryposis type 2B1
Synonyms: DA2B1
Definition: A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
Ontology: Human Disease [DOID:0111600]   ( DOID:0111600 )

Relationships
is a type of: autosomal dominant disease distal arthrogryposis type 2B