osteosclerotic metaphyseal dysplasia

Term ID

DOID:0081111

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. https://pubmed.ncbi.nlm.nih.gov/18811698/

References

• MIM:615198
• ORDO:500548

Ontology

Human Disease   ( DOID:0081111 )