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Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Bone disease refers to the medical conditions which affect the bone. [1] Terminology. A bone disease is also called an "osteopathy ", but because the term ...
The two types of ochronosis are endogenous and exogenous. The endogenous variety is an autosomal-recessive disease, known as alkaptonuria, that is caused by a lack of homogentisate oxidase enzyme. [2] Exogenous ochronosis is an avoidable dermatitis that can be caused by the topical application of compounds such as hydroquinone or phenols. [2]
Bone development disorder; Bone dysplasia Azouz type; Bone dysplasia corpus callosum agenesis; Bone dysplasia lethal Holmgren type; Bone dysplasia Moore type; Bone fragility craniosynostosis proptosis hydrocephalus; Bone marrow failure neurologic abnormalities; Bone marrow failure; Bone neoplasms; Bone tumor (generic term) Bonneau–Beaumont ...
The Huffington Post
An osteochondrodysplasia, [note 1] or skeletal dysplasia, is a disorder of the development of bone and cartilage. [1] Osteochondrodysplasias are rare diseases.About 1 in 5,000 babies are born with some type of skeletal dysplasia. [2]
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