Term Name: | acromesomelic dysplasia-3 |
---|---|
Synonyms: | Demirhan-type acromesomelic dysplasia |
Definition: | An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. |
Ontology: | Human Disease [DOID:0081237] ( DOID:0081237 ) |