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Metadata
ID DOID:0111600
Name distal arthrogryposis type 2B1
Definition A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
https://www.ncbi.nlm.nih.gov/pubmed/12592607
Xrefs

OMIM:601680

Synonyms

DA2B1 [EXACT]

Parent Relationships

is_a distal arthrogryposis type 2B

is_a autosomal dominant disease

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