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disease > congenital disease > malformation > COACH syndrome
disease > digestive diseases > hepatic disease > COACH syndrome
disease > eye disease > COACH syndrome
disease > complex syndrome > COACH syndrome
... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > cerebellar disease > COACH syndrome

Terme préférentiel

COACH syndrome  

Définition(s)

  • COACH syndrome is a rare recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. (Wikipedia)

Concept(s) générique(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-MF063W02-Q

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020