"brachydactyly type E2"^^ . "DOID:0110976"^^ . "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."^^ . . . "OMIM:613382"^^ . "disease_ontology"^^ . . "BDE2"@en .