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Metadata
ID DOID:0070113
Name Niemann-Pick disease type C1
Definition A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.
https://www.ncbi.nlm.nih.gov/pubmed/11182931
Xrefs

GARD:7207

ICD10CM:E75.2

OMIM:257220

Synonyms

NPC1 [EXACT]

Parent Relationships

is_a genetic disease

is_a Niemann-Pick disease

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