Term Name: acromesomelic dysplasia 3
Synonyms: Demirhan-type acromesomelic dysplasia
Definition: An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
Ontology: Human Disease [DOID:0081237]   ( DOID:0081237 )

Relationships
is a type of: acromesomelic dysplasia autosomal recessive disease