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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Niemann-Pick Disease, Type A | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C126561 |
|
| code |
C126561
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| Contributing_Source |
Cellosaurus
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| definition |
An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease.
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| in_subset | ||
| label |
Niemann-Pick Disease, Type A
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| Preferred_Name |
Niemann-Pick Disease, Type A
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|
| prefixIRI |
NCIT:C126561
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| prefLabel |
Niemann-Pick Disease, Type A
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0268242
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| subClassOf |
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