FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Camurati-Engelmann disease ID (Ontology) DOID:4997 (Human Disease)
Definition An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Also Known As "Diaphyseal dysplasia" ; "Engelman's disease" ; "progressive diaphyseal dysplasia"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Camurati-Engelmann disease       3
 for disease ribbon | Camurati-Engelmann disease       3
 model of | Camurati-Engelmann disease       3
Spanning Tree (Parents/Children)
Only view relationship: 
bone remodeling disease
 |__osteosclerosis_____
genetic disease        |
 |__monogenic disease__|
                       Camurati-Engelmann disease  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a monogenic disease
osteosclerosis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Diaphyseal dysplasia" EXACT
    "Engelman's disease" EXACT
    "progressive diaphyseal dysplasia" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:1072
ICD10CM:Q78.3
MESH:D003966
MIM:131300
MIM:606631
NCI:C84610
SNOMEDCT_US_2023_03_01:34643004
UMLS_CUI:C0011989