Search Ontology:
Human Disease

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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
Citations