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Metadata
ID DOID:0111598
Name distal arthrogryposis type 1B
Definition A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.
https://www.ncbi.nlm.nih.gov/pubmed/20045868
Xrefs

MIM:614335

Synonyms

DA1B [EXACT]

Parent Relationships

is_a distal arthrogryposis type 1

is_a autosomal dominant disease

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