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ID	DOID:0061230
PURL	http://purl.obolibrary.org/obo/DOID_0061230 Copy Copied!
Name	Camurati-Engelmann disease 2
Definition	An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/40204055/
Xrefs	MIM:606631
Parent Relationships	is_a autosomal dominant disease is_a Camurati-Engelmann disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance disease has basis in some gene