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autosomal dominant osteopetrosis 1
Summary
- Synonym
-
- OPTA1
- autosomal dominant osteopetrosis type 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.
- Super Class
- autosomal dominant disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110937
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
