Term Name:	brachydactyly type E2
Synonyms:	BDE2
Definition:	A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
Ontology:	Human Disease [DOID:0110976]   ( DOID:0110976 )