| Metadata | |
|---|---|
| ID | DOID:0061229 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061229 Copy |
| Name | Camurati-Engelmann disease 1 |
| Definition | An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/15894597/ |
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