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Metadata
ID	DOID:0110937
Name	autosomal dominant osteopetrosis 1
Definition	An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/12579474, https://www.ncbi.nlm.nih.gov/pubmed/3377922
Xrefs	MESH:C536056 MIM:607634 ORDO:2783 UMLS_CUI:C1843330
Subsets	DO_rare_slim
Synonyms	autosomal dominant osteopetrosis type 1 [EXACT] OPTA1 [EXACT]
Parent Relationships	is_a osteopetrosis is_a autosomal dominant disease