Acromesomelic dysplasia Maroteaux type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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 associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
NPR2 natriuretic peptide receptor 2