| Disease ID | Source | Name | Description |
| 611497 | OMIM | Osteopetrosis, autosomal recessive 6 (OPTB6) | A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. The disease is caused by variants affecting the gene represented in this entry. |
| 618107 | OMIM | Osteopetrosis, autosomal dominant 3 (OPTA3) | A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia. The disease is caused by variants affecting the gene represented in this entry. |