Disease Index

osteogenesis imperfecta that has material basis in mutation in the CRTAP gene on chromosome 3p22

osteogenesis imperfecta that has material basis in mutation in the P3H1 gene on chromosome 1p34.2

osteogenesis imperfecta that has material basis in mutation in the PPIB gene on chromosome 15q22

medical condition

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth

Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content

bone death caused when the bone no longer receives blood supply

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

aseptic or avascular necrosis of the femoral head

area of necrotic bone in the mandible or maxilla

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss

Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock

an extremely rare inherited disorder whereby the bones harden, becoming denser, sometimes causing bones to dissolve and break, caused by malfunctioning osteoclasts’ inability to resorb bone

osteosclerosis that results in numerous bone islands located in skeleton

Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures

bone cancer that is located in bone that has material basis in cells of mesenchymal origin

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)

This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease