- autosomal recessive lethal
- 常染色体隐性致死
Medical Chinese dictionary (湘雅医学词典). 2013.
Medical Chinese dictionary (湘雅医学词典). 2013.
Lethal white syndrome — (LWS), also called overo lethal white syndrome (OLWS), lethal white overo (LWO), and overo lethal white foal syndrome (OLWFS), is an autosomal genetic disorder most prevalent in the American Paint Horse. Affected foals are born after the full 11… … Wikipedia
lethal multiple pterygium syndrome — a lethal autosomal recessive disorder caused by mutations in any of several genes that encode acetylcholine receptor components, characterized by multiple pterygia, lung hypoplasia, flexion contractures of the limbs, characteristic facies, and… … Medical dictionary
Meckel syndrome — Classification and external resources ICD 10 Q61.9 OMIM 249000 DiseasesDB … Wikipedia
genetic disease, human — Introduction any of the diseases and disorders that are caused by mutations in one or more genes (gene). With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization … Universalium
Laminopathy — Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence note the irregular and bumpy shape of the laminopathic nuclei[1] Laminopathies are a group of rare genetic disorders… … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Medical genetics of Jewish people — The medical genetics of Jewish people is the study, screening and treatment of genetic disorders that are more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly… … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
human disease — Introduction an impairment of the normal state of a human being that interrupts or modifies its vital functions. health versus disease Before human disease can be discussed, the meanings of the terms health, physical fitness, illness … Universalium
Dwarfism — Abnormally short stature, which may be due to a variety of causes. Some forms are hereditary. See also {{}}achondroplasia; dwarfism, pituitary. * * * A condition or a group of conditions in which the standing height of the person is below the 3rd … Medical dictionary
Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q … Wikipedia