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Metadata
ID DOID:0111597
Name distal arthrogryposis type 1A
Definition A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/12592607
Xrefs

MESH:C535378

OMIM:108120

Synonyms

DA1A [EXACT]

Parent Relationships

is_a distal arthrogryposis type 1

is_a autosomal dominant disease

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