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Concept information

disease > metabolic diseases > lipoidosis > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
disease > degenerative disease > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
disease > enzymopathy > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
... > disease > genetic disease > hereditary disease > lysosomal storage disease > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
disease > metabolic diseases > lysosomal storage disease > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
disease > enzymopathy > lysosomal storage disease > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease
disease > nervous system diseases > neuronal ceroid lipofuscinosis > Bielchowsky-Jansky disease

Preferred term

Bielchowsky-Jansky disease  

Definition(s)

  • Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. (Wikipedia)

Broader concept(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-L9SVWPGB-P

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