OBO ID: DOID:0081111 |
Term Name: | osteosclerotic metaphyseal dysplasia | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0081111 ) |
OTHER osteosclerotic metaphyseal dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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