Miura type epiphyseal chondrodysplasia Disease Ontology Browser

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Disease Ontology Browser

Miura type epiphyseal chondrodysplasia (DOID:0070316)
Alliance: disease page
Synonyms: ECDM; tall stature-scoliosis-macrodactyly of the great toes syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome
Alt IDs: OMIM:615923, ORDO:329191
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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