| Term Name: | acromesomelic dysplasia, Maroteaux type |
|---|---|
| Synonyms: | acromesomelic dysplasia-1 |
| Definition: | An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. |
| Ontology: | Human Disease [DOID:0080050] ( DOID:0080050 ) |