Acromesomelic dysplasia, Maroteaux type Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. (Human Disease Ontology, DOID_0080050)
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1 genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
NPR2 natriuretic peptide receptor 2 2.88009