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Disease Ontology Browser
autosomal dominant osteopetrosis 1 (DOID:0110937)
Alliance: disease page
Synonyms: autosomal dominant osteopetrosis type 1; OPTA1
Alt IDs: OMIM:607634, MESH:C536056, ORDO:2783, UMLS_CUI:C1843330
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory