A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. [ url:https://www.ncbi.nlm.nih.gov/pubmed/17470133 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: NPC2

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:E75.2
  • GARD:3992
  • MIM:607625
Subsets

DO_rare_slim

acronym
NPC2

has obo namespace

disease_ontology

id

DOID:0070114