Link to this page
Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
Jump to:
| Preferred Name | Niemann-Pick Disease, Type C1 | |
| Synonyms |
|
|
| Definitions |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C126864 |
|
| code |
C126864
|
|
| Contributing_Source |
Cellosaurus
|
|
| definition |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
|
|
| in_subset | ||
| label |
Niemann-Pick Disease, Type C1
|
|
| Preferred_Name |
Niemann-Pick Disease, Type C1
|
|
| prefixIRI |
NCIT:C126864
|
|
| prefLabel |
Niemann-Pick Disease, Type C1
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C3179455
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping