Skip to main

Human Diseases (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

disease > genetic disease > hereditary disease > Imerslund disease
disease > hemopathy > anemia > megaloblastic anemia > Imerslund disease
disease > metabolic disorder > vitamin deficiency > Imerslund disease
disease > nutrition disorder > vitamin deficiency > Imerslund disease

Término preferido

Imerslund disease  

Definición

  • Imerslund–Gräsbeck syndrome, is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry. (Wikipedia)

Concepto genérico

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/VH8-HMBMF79B-M

Descargue este concepto:

RDF/XML TURTLE JSON-LD