FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Niemann-Pick disease type A ID (Ontology) DOID:0070111 (Human Disease)
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 the SMPD1 gene on chromosome 11p15.4.
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Niemann-Pick disease type A       3      1
 for disease ribbon | Niemann-Pick disease type A       3       --
 model of | Niemann-Pick disease type A       3       --
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  sphingolipidosis
   |__Niemann-Pick disease
       |__Niemann-Pick disease type A  4 rec.
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GARD:7206
ICD10CM:E75.2
MIM:257200