acromesomelic dysplasia 3

Term ID

DOID:0081237

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. https://pubmed.ncbi.nlm.nih.gov/26105076/

References

• MIM:609441

Ontology

Human Disease   ( DOID:0081237 )