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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

Preferred term

De Sanctis-Cacchione syndrome  

Definition(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)

Broader concept(s)

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URI

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

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RDF/XML TURTLE JSON-LD Last modified 5/14/20