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osteosclerotic metaphyseal dysplasia
Summary
- 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.
- Super Class
- autosomal recessive disease metaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0081111
- Mondo Disease Ontology
- ORDO
- OMIM
