Term Name: | distal arthrogryposis type 1B |
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Synonyms: | DA1B |
Definition: | A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. |
Ontology: | Human Disease [DOID:0111598] ( DOID:0111598 ) |