Details of Disease

General Information of Disease (ID: DISBAITH)

Disease Name Niemann-Pick disease type C, juvenile neurologic onset
Synonyms Niemann-Pick disease type C, classic form
Disease Hierarchy
DIS492ZO: Niemann-Pick disease type C
DISBAITH: Niemann-Pick disease type C, juvenile neurologic onset
Disease Identifiers
MONDO ID
MONDO_0016309
UMLS CUI
C5679813
MedGen ID
1842257
Orphanet ID
216981

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NPC1 OTRIPICX Supportive Autosomal recessive [1]
NPC2 OTE9UEJC Supportive Autosomal recessive [1]
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References

1 Niemann-Pick Disease Type C. 2000 Jan 26 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.