Disease Index

human disease

pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine

osteochondrosis

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia

Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification

Human disease

medical condition

Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone

ischemic bone disease that results in necrosis followed by regrowth in children and teens located in bone

instance of osteochondrosis that is caused by a modification of the individual's genome

human disease

developmental disorder

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3

osteogenesis imperfecta that has material basis in mutation in the SERPINH gene on chromosome 11q13

osteogenesis imperfecta that has material basis in mutation in the FKBP10 gene on chromosome 17q21

osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13

osteogenesis imperfecta that has material basis in mutation in the BMP1 gene on chromosome 8p21

osteogenesis imperfecta that has material basis in mutation in the TMEM38B gene on chromosome 9q31

osteogenesis imperfecta that has material basis in mutation in the WNT1 gene on chromosome 12q13

osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11

osteogenesis imperfecta that has material basis in mutation in the SPARC gene on chromosome 5q33

osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3

osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3

osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3

osteogenesis imperfecta that has material basis in mutation in the IFITM5 gene on chromosome 11p15

osteogenesis imperfecta that has material basis in mutation in the SERPINF1 gene on chromosome 17p13.3