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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0011871
http://purl.obolibrary.org/obo/MONDO_0011871
|
|---|---|
| Preferred Name | Niemann-Pick disease type B |
| Definitions |
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
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| Synonyms |
Niemann-Pick disease, type E
Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression
Niemann-Pick disease, type F
Niemann-PICK disease, type B
Niemann Pick disease type B
type B Niemann-Pick disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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 |
|---|---|
| altLabel |
Niemann-Pick disease, type E
Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression
Niemann-Pick disease, type F
Niemann-PICK disease, type B
Niemann Pick disease type B
type B Niemann-Pick disease
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| label | Niemann-Pick disease type B
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| prefLabel | Niemann-Pick disease type B
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| IAO_0000233 | |
| has_related_synonym |
Niemann-Pick disease, type E
Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression
Niemann-Pick disease, type F
Niemann-PICK disease, type B
Niemann Pick disease type B
|
| prefixIRI | MONDO:0011871
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| seeAlso | |
| textual 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
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| subClassOf | |
| type | |
| has_exact_synonym | type B Niemann-Pick disease
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