Human genes for autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 1 [DOID:0110937]
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.
Synonyms: autosomal dominant osteopetrosis 1, DOID:0110937, autosomal dominant osteopetrosis type 1, OPTA1