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DO Term : osteosclerotic metaphyseal dysplasia [DOID:0081111] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:500548,
  • 615198,
  • OMIM:615198
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents