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Metadata
ID DOID:0070111
Name Niemann-Pick disease type A
Definition A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.
https://www.ncbi.nlm.nih.gov/pubmed/13696518, https://www.ncbi.nlm.nih.gov/pubmed/19405096
Xrefs

ICD10CM:E75.2

OMIM:257200

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is_a Niemann-Pick disease

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