Term Name: | osteosclerotic metaphyseal dysplasia |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081111] ( DOID:0081111 ) |