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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

GARD:1072

ICD10CM:Q78.3

MESH:D003966

NCI:C84610

OMIM:131300

OMIM:606631

SNOMEDCT_US_2023_03_01:34643004

UMLS_CUI:C0011989

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

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