Miura type epiphyseal chondrodysplasia

Summary

DOID:0070316 - Miura type epiphyseal chondrodysplasia

Disease Ontology 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.

Synonyms: ECDM, tall stature-scoliosis-macrodactyly of the great toes syndrome, tall stature-scoliosis-macrodactyly of the halluces syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: npr2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), bone development disease (is_a)