Term Name: Camurati-Engelmann disease 2
Synonyms:
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.
Ontology: Human Disease [DOID:0061230]   ( DOID:0061230 )

Relationships
is a type of: autosomal dominant disease Camurati-Engelmann disease