Entity    brachydactyly type A1B
JSON
Prefix
doid
Identifier
0110974
Name
brachydactyly type A1B
Definition
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
Synonyms
  • BDA1B
Cross-References
Relations