NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
Comprehensive, easy-to-understand information about this condition
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immunodeficiency-centromeric instability-facial anomalies syndrome
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hypercalcemia, infantile
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Ochoa syndrome
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autosomal recessive Ehlers-Danlos syndrome, vascular type
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hydrolethalus syndrome
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3-M syndrome
MONDO:0007477