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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Niemann-Pick Disease, Type A | |
| Synonyms |
Niemann-Pick Disease, Type A |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126561 |
|
| code |
C126561
|
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus
|
|
| 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.
|
|
| FULL_SYN |
Niemann-Pick Disease, Type A
|
|
| label |
Niemann-Pick Disease, Type A
|
|
| Preferred_Name |
Niemann-Pick Disease, Type A
|
|
| prefixIRI |
Thesaurus:C126561
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|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0268242
|
|
| subClassOf |
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