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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Niemann-Pick disease type A | |
| Synonyms |
sphingomyelin lipidosis Niemann-PICK disease, type A sphingomyelinase deficiency Niemann-Pick disease, Intermediate, protracted neurovisceral |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009756 |
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| altLabel |
sphingomyelin lipidosis Niemann-PICK disease, type A sphingomyelinase deficiency Niemann-Pick disease, Intermediate, protracted neurovisceral
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|
| 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.
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| has characteristic | ||
| has_related_synonym |
sphingomyelin lipidosis Niemann-PICK disease, type A sphingomyelinase deficiency Niemann-Pick disease, Intermediate, protracted neurovisceral
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| IAO_0000233 | ||
| label |
Niemann-Pick disease type A
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| prefixIRI |
MONDO:0009756
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| prefLabel |
Niemann-Pick disease type A
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| textual 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.
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| subClassOf |
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