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 C1 ID (Ontology) DOID:0070113 (Human Disease)
Definition A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
Also Known As "NPC1"
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Niemann-Pick disease type C1       5      2      1
 for disease ribbon | Niemann-Pick disease type C1       --       2       --
 model of | Niemann-Pick disease type C1       5      2       --
Spanning Tree (Parents/Children)
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  sphingolipidosis
   |__Niemann-Pick disease
       |__Niemann-Pick disease type C1  8 rec.
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Is a Niemann-Pick disease
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Synonyms
  • "NPC1" EXACT OMO:0003012
Secondary IDs
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GARD:7207
ICD10CM:E75.2
MIM:257220