Term Name: osteosclerotic metaphyseal dysplasia
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.
Ontology: Human Disease [DOID:0081111]   ( DOID:0081111 )

Relationships
is a type of: autosomal recessive disease metaphyseal dysplasia