Term Name: | acromesomelic dysplasia, Maroteaux type |
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Synonyms: | acromesomelic dysplasia-1 |
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. |
Ontology: | Human Disease [DOID:0080050] ( DOID:0080050 ) |