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Metadata
ID	DOID:0081111
Name	osteosclerotic metaphyseal dysplasia
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. https://pubmed.ncbi.nlm.nih.gov/18811698/
Xrefs	MIM:615198 ORDO:500548
Subsets	DO_rare_slim
Parent Relationships	is_a metaphyseal dysplasia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance