Term Name: | distal arthrogryposis type 2B1 |
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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 ) |