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Metadata
ID DOID:0111602
Name distal arthrogryposis type 2B3
Definition A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
https://www.ncbi.nlm.nih.gov/pubmed/16642020
Xrefs

OMIM:618436

Synonyms

DA2B3 [EXACT]

distal arthrogryposis type 2B3 (Sheldon-Hall) [EXACT]

Parent Relationships

is_a distal arthrogryposis type 2B

is_a autosomal dominant disease

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