Term Name: brachydactyly type A1B
Synonyms: BDA1B
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.
Ontology: Human Disease [DOID:0110974]   ( DOID:0110974 )

Relationships
is a type of: brachydactyly type A1