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Metadata
ID DOID:0050689
Name brachydactyly-syndactyly syndrome
Definition A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
https://www.ncbi.nlm.nih.gov/pubmed/17236141, https://www.omim.org/entry/610713
Xrefs

MESH:C565193

OMIM:610713

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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