FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term osteosclerotic metaphyseal dysplasia ID (Ontology) DOID:0081111 (Human Disease)
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.
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 Genes
 osteosclerotic metaphyseal dysplasia       1
 for disease ribbon | osteosclerotic metaphyseal dysplasia       1
 model of | osteosclerotic metaphyseal dysplasia       1
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__metaphyseal dysplasia________|
                                 osteosclerotic metaphyseal dysplasia  1 rec.
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Is a autosomal recessive disease
metaphyseal dysplasia
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MIM:615198
ORDO:500548