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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Niemann-Pick Disease, Type C1 | |
| Synonyms |
Niemann-Pick Disease, Type C1 Type C1 Niemann-Pick Disease |
|
| Definitions |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126864 |
|
| code |
C126864
|
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus
|
|
| DEFINITION |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
|
|
| FULL_SYN |
Niemann-Pick Disease, Type C1 Type C1 Niemann-Pick Disease
|
|
| label |
Niemann-Pick Disease, Type C1
|
|
| Preferred_Name |
Niemann-Pick Disease, Type C1
|
|
| prefixIRI |
Thesaurus:C126864
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|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C3179455
|
|
| subClassOf |
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