acromesomelic dysplasia, Maroteaux type (DOID:0080050)
Alliance: disease page
Synonyms: acromesomelic dysplasia-1
Alt IDs: OMIM:602875, MESH:C535661, ORDO:40
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.