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Niemann-Pick disease type A

Go to external page http://purl.obolibrary.org/obo/DOID_0070111

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/19405096 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/13696518 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:7206
  • ICD10CM:E75.2
  • MIM:257200
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0070111