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 C2 ID (Ontology) DOID:0070114 (Human Disease)
Definition A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
Also Known As "NPC2"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Niemann-Pick disease type C2       6      1
 for disease ribbon | Niemann-Pick disease type C2       6       --
 model of | Niemann-Pick disease type C2       6       --
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  sphingolipidosis
   |__Niemann-Pick disease
       |__Niemann-Pick disease type C2  7 rec.
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Is a Niemann-Pick disease
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Synonyms
  • "NPC2" EXACT OMO:0003012
Secondary IDs
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GARD:3992
ICD10CM:E75.2
MIM:607625