Term Name: | acromesomelic dysplasia 3 |
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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 ) |