Link to this page
Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
Jump to:
| Preferred Name | Niemann-Pick disease, type C1 | |
| Synonyms |
Niemann-Pick disease, chronic neuronopathic form Niemann-Pick disease, type C Niemann-Pick disease, subacute juvenile form neurovisceral storage disease with vertical supranuclear ophthalmoplegia Niemann-Pick disease without sphingomyelinase deficiency NPC1 Niemann-Pick disease, nova Scotian type Niemann-Pick disease with cholesterol esterification block Niemann-PICK disease, type C1 Niemann-Pick disease type C1 Niemann-Pick disease, type D type C1 Niemann-Pick disease Niemann-Pick disease, type C1 |
|
| 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/MONDO_0009757 |
|
| altLabel |
Niemann-Pick disease, chronic neuronopathic form Niemann-Pick disease, type C Niemann-Pick disease, subacute juvenile form neurovisceral storage disease with vertical supranuclear ophthalmoplegia Niemann-Pick disease without sphingomyelinase deficiency NPC1 Niemann-Pick disease, nova Scotian type Niemann-Pick disease with cholesterol esterification block Niemann-PICK disease, type C1 Niemann-Pick disease type C1 Niemann-Pick disease, type D type C1 Niemann-Pick disease Niemann-Pick disease, type C1
|
|
| definition |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
|
|
| has_exact_synonym |
type C1 Niemann-Pick disease Niemann-Pick disease, type C1
|
|
| has_related_synonym |
Niemann-Pick disease, chronic neuronopathic form Niemann-Pick disease, type C Niemann-Pick disease, subacute juvenile form neurovisceral storage disease with vertical supranuclear ophthalmoplegia Niemann-Pick disease without sphingomyelinase deficiency NPC1 Niemann-Pick disease, nova Scotian type Niemann-Pick disease with cholesterol esterification block Niemann-PICK disease, type C1 Niemann-Pick disease type C1 Niemann-Pick disease, type D
|
|
| label |
Niemann-Pick disease, type C1
|
|
| prefixIRI |
MONDO:0009757
|
|
| prefLabel |
Niemann-Pick disease, type C1
|
|
| textual definition |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping