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Metadata
DOID 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
Synonyms

autosomal dominant osteopetrosis type 1 [EXACT]

OPTA1 [EXACT]

Xrefs

MESH:C536056

OMIM:607634

ORDO:2783

UMLS_CUI:C1843330

Relationships

is_a osteopetrosis

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