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MIRAGE
Miura type epiphyseal chondrodysplasia

Summary
Synonym
  • ECDM
  • tall stature-scoliosis-macrodactyly of the great toes syndrome
  • tall stature-scoliosis-macrodactyly of the halluces syndrome
Definition
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.
Super Class
autosomal dominant disease bone development disease
Disease Ontology
DOID:0070316
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4882 NPR2 natriuretic peptide receptor 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P20594 Atrial natriuretic peptide receptor 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025