| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
ECDM [EXACT] tall stature-scoliosis-macrodactyly of the great toes syndrome [EXACT] tall stature-scoliosis-macrodactyly of the halluces syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |