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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Niemann-Pick Disease, Type B | |
| Synonyms |
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| Definitions |
An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C126866 |
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| code |
C126866
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| Contributing_Source |
Cellosaurus
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| definition |
An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form.
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| in_subset | ||
| label |
Niemann-Pick Disease, Type B
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| Preferred_Name |
Niemann-Pick Disease, Type B
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| prefixIRI |
NCIT:C126866
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| prefLabel |
Niemann-Pick Disease, Type B
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0268243
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| subClassOf |
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