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Disease Ontology Browser
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 homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory