WormBase Tree Display for DO_term: DOID:0081111
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DOID:0081111 | Name | osteosclerotic metaphyseal dysplasia | |||
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Status | Valid | ||||
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. | ||||
Parent | Is_a | DOID:0050737 | |||
DOID:0080019 | |||||
DB_info | Database | OMIM | disease | 615198 | |
Attribute_of | Gene_by_orthology | WBGene00003068 |