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Metadata
ID DOID:0070316
Name Miura type epiphyseal chondrodysplasia
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.
https://www.ncbi.nlm.nih.gov/pubmed/24057292, https://www.ncbi.nlm.nih.gov/pubmed/24259409
Xrefs

OMIM:615923

ORDO:329191

Synonyms

ECDM [EXACT]

tall stature-scoliosis-macrodactyly of the great toes syndrome [EXACT]

tall stature-scoliosis-macrodactyly of the halluces syndrome [EXACT]

Parent Relationships

is_a bone development disease

is_a autosomal dominant disease

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