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bn:03595375n
Noun Concept
Categories: Syndromes affecting the lung, Syndromes affecting the gastrointestinal tract, Cell surface receptor deficiencies, Syndromes affecting the nervous system, Diseases of arteries, arterioles and capillaries
EN
hereditary hemorrhagic telangiectasia  hereditary haemorrhagic telangiectasia  Hereditary hemorrhagic telangiectasia type 1  Hereditary hemorrhagic telangiectasia type 2  Hereditary hemorrhagic teleangiectasia
EN
Hereditary hemorrhagic telangiectasia, also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. Wikipedia
Definitions
Relations
Sources
EN
Hereditary hemorrhagic telangiectasia, also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. Wikipedia
Genetic disorder involving capillaries Wikidata
IS A
rare disease
vascular disease
GENETIC ASSOCIATION
GDF2
ACVRL1
mothers against decapentaplegic homolog 4
endoglin
HEALTH SPECIALTY
medical genetics
MODE OF INHERITANCE
autosomal dominant
NAMED AFTER
William Osler
Henri Jules Louis Marie Rendu
Frederick Parkes Weber
Wikipedia
EN
hereditary hemorrhagic telangiectasia
Wikidata
EN
hereditary hemorrhagic telangiectasia
Wikipedia Redirections
EN
hereditary haemorrhagic telangiectasia, Hereditary Hemorrhagic Telangiectasia, Hereditary hemorrhagic telangiectasia type 1, Hereditary hemorrhagic telangiectasia type 2, Hereditary hemorrhagic teleangiectasia, Hereditary telangiectasia, Osler's disease, Osler-Rendu-Weber Disease, Osler-Weber-Rendu disease, Osler-Weber-Rendu syndrome, Osler disease, Osler Weber Rendu syndrome, Osler–Weber–Rendu disease, Osler–Weber–Rendu syndrome, OWR, Rendu-Osler-Weber disease, Rendu-Osler-Weber syndrome, Rendu–Osler–Weber syndrome, Telangiectasia, hereditary hemorrhagic
Wikidata Alias
EN
HHT, Orw Disease, Osler-Rendu-Weber Disease, Osler-Weber-Rendu diease, Osler-Weber-Rendu disease, Osler disease, Osler hemorrhagic telangiectasia syndrome, Rendu-Osler-Weber disease, Telangiectasia, Hereditary Hemorrhagic, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT, Telangiectasia, Hereditary Hemorrhagic, Type 1

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