osteosclerotic metaphyseal dysplasia (DOID:0081111)
Alliance: disease page
Alt IDs: OMIM:615198, ORDO:500548
Definition: A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.