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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Niemann-Pick Disease | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61269 |
|
| code |
C61269
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| Contributing_Source |
Cellosaurus CTRP NICHD
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| definition |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
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| Display_Name |
Niemann-Pick Disease
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C165258 |
|
| label |
Niemann-Pick Disease
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|
| Legacy Concept Name |
Niemann-Pick_Disease
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|
| Preferred_Name |
Niemann-Pick Disease
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| prefixIRI |
NCIT:C61269
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| prefLabel |
Niemann-Pick Disease
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0028064
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| subClassOf |
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