DISEASES

Disease-gene associations mined from literature

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,  OPTA1,  autosomal dominant osteopetrosis type 1