Disease association ontology term - MONDO:0011871 - Niemann-Pick disease type B

Term summary

ID

MONDO:0011871

Name

Niemann-Pick disease type B

Ontology or CV name

Disease association

Definition

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

Parents

• is_a autosomal recessive disease
• is_a interstitial lung disease specific to childhood
• is_a hereditary peripheral neuropathy
• is_a inherited interstitial lung disease
• is_a acid sphingomyelinase deficiency

Annotation