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Browse result for Miura type epiphyseal chondrodysplasia

※ introduction

    A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.

Reference
DiseaseOntology: Miura type epiphyseal chondrodysplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04433P205944882
NPR2
Atrial natriuretic peptide receptor 2
Homo sapiens