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Mondo Disease Ontology
| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009757 |
|
| database_cross_reference |
MEDGEN:465922 NCIT:C126864 DOID:0070113 SCTID:18927009 UMLS:C3179455 SCTID:67855008 OMIM:257220
|
|
| 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
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|
| 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
|
|
| id |
MONDO:0009757
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen |
|
| label |
Niemann-Pick disease, type C1
|
|
| notation |
MONDO:0009757
|
|
| prefLabel |
Niemann-Pick disease, type C1
|
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C3179455 http://purl.obolibrary.org/obo/NCIT_C126864 http://identifiers.org/snomedct/18927009 http://identifiers.org/snomedct/67855008 |
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| subClassOf |
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