Search Ontology:
Human Disease
Camurati-Engelmann disease 1
- Term ID
- DOID:0061229
- Synonyms
-
- 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/
- References
- Ontology
- Human Disease ( DOID:0061229 )
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Genes Involved
Zebrafish Models