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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 B | |
| 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 |
|
| 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 |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011871 |
|
| 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
|
|
| 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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|
| has_exact_synonym |
type B Niemann-Pick disease
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| 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
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|
| IAO_0000233 | ||
| label |
Niemann-Pick disease type B
|
|
| prefixIRI |
MONDO:0011871
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|
| prefLabel |
Niemann-Pick disease type B
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b |
|
| 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
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100464 |
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