| Metadata | |
|---|---|
| ID | DOID:4997 |
| Name | Camurati-Engelmann disease |
| Definition | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. http://en.wikipedia.org/wiki/Camurati-Engelmann_disease, http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease, http://www.ncbi.nlm.nih.gov/books/NBK1156/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:34643004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Diaphyseal dysplasia [EXACT] Engelman's disease [EXACT] progressive diaphyseal dysplasia [EXACT] |
| Parent Relationships |
is_a osteosclerosis is_a monogenic disease |