Term Name: | autosomal dominant osteopetrosis 1 |
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Synonyms: | autosomal dominant osteopetrosis type 1, OPTA1 |
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. |
Ontology: | Human Disease [DOID:0110937] ( DOID:0110937 ) |