OBO ID: DOID:0081111
Term Name: osteosclerotic metaphyseal dysplasia Search Ontology:
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:
Ontology: Human Disease   ( DOID:0081111 )
Relationships
is a type of:
OTHER osteosclerotic metaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRRK1 Osteosclerotic metaphyseal dysplasia 615198
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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