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autosomal lethal

См. также в других словарях:

  • 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

  • Platyspondylic lethal skeletal dysplasia, Torrance type — is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized… …   Wikipedia

  • Waardenburg's syndrome — Autosomal dominant disorder with deafness and pigmentary disturbances probably as a result of defects in function of neural crest. Various forms of the syndrome are recognized. Waardenburg Syndrome 1 (WS1) and WS3 (also known as Klein Waardenburg …   Dictionary of molecular biology

  • 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

  • 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

  • Dominant white — This dominant white Thoroughbred stallion (W2/+) has one form of dominant white. His skin, hooves, and coat lack pigment cells, giving him a pink skinned white coat. Dominant white is a group of genetically related coat color conditions in the… …   Wikipedia

  • Meckel syndrome — Classification and external resources ICD 10 Q61.9 OMIM 249000 DiseasesDB …   Wikipedia

  • Boomerang dysplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|Q|68|5|q|68 ICD9 = ICD9|754.44 ICDO = OMIM = 112310 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Boomerang dysplasia is a lethal form of osteochondrodysplasiacite… …   Wikipedia

  • 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

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

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