Search Ontology:
Human Disease
Camurati-Engelmann disease
- Term ID
- DOID:4997
- Synonyms
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- Diaphyseal dysplasia
- Engelman's disease
- progressive diaphyseal dysplasia
- Definition
- An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (5)
- References
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- GARD:1072
- ICD10CM:Q78.3
- MESH:D003966
- MIM:131300
- MIM:606631
- NCI:C84610
- SNOMEDCT_US_2023_03_01:34643004
- UMLS_CUI:C0011989
- Ontology
- Human Disease ( DOID:4997 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models