Visualize Submit Comment
Metadata
ID DOID:0050689
Name brachydactyly-syndactyly syndrome
Definition An autosomal genetic disease 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 autosomal genetic disease

Add an item to the term tracker