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Concept information

disease > nervous system diseases > neurological disorder > De Sanctis-Cacchione syndrome
disease > rare disease > De Sanctis-Cacchione syndrome
disease > genetic disease > hereditary disease > xeroderma pigmentosum > De Sanctis-Cacchione syndrome
... > disease > skin appendages disease > skin disease > pigmentation disorder > xeroderma pigmentosum > De Sanctis-Cacchione syndrome
... > disease > skin appendages disease > skin disease > photosensitivity > photodermatosis > xeroderma pigmentosum > De Sanctis-Cacchione syndrome

Terme préférentiel

De Sanctis-Cacchione syndrome  

Définition(s)

  • DeSanctis–Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. (Wikipedia)

Concept(s) générique(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-CP3JG72K-X

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