Disease association ontology term - MONDO:0009756 - Niemann-Pick disease type A
Term summary
- ID
- MONDO:0009756
- Name
- Niemann-Pick disease type A
- Ontology or CV name
- Disease association
- Definition
- Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
