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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
Reference
DiseaseOntology: Miura type epiphyseal chondrodysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04433 | P20594 | 4882 | NPR2 | Atrial natriuretic peptide receptor 2 | Homo sapiens |
