Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. [ NCIT:C126864 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0070113 (MONDO:equivalentTo)
  • UMLS:C3179455 (OMIM:257220)
  • ICD10:E75.2 (DOID:0070113)
  • NCIT:C126864 (MONDO:equivalentTo)
  • SCTID:18927009 (MONDO:equivalentTo)
  • GARD:0007207 (OMIM-shared)
  • OMIM:257220 (MONDO:equivalentTo)
closeMatch

http://linkedlifedata.com/resource/umls/id/C0268247

http://linkedlifedata.com/resource/umls/id/C1850363

definition

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

exactMatch

http://purl.obolibrary.org/obo/DOID_0070113

http://identifiers.org/snomedct/18927009

http://linkedlifedata.com/resource/umls/id/C3179455

http://purl.obolibrary.org/obo/NCIT_C126864

http://identifiers.org/omim/257220

has exact synonym

type C1 Niemann-Pick disease

Niemann-Pick disease, type C1

has related synonym

Niemann-PICK disease, type C1

Niemann-Pick disease, type C

NPC1

neurovisceral storage disease with vertical supranuclear ophthalmoplegia

Niemann-Pick disease, nova Scotian type

Niemann-Pick disease with cholesterol esterification block

Niemann-Pick disease, type D

Niemann-Pick disease, subacute juvenile form

Niemann-Pick disease without sphingomyelinase deficiency

Niemann-Pick disease type C1

Niemann-Pick disease, chronic neuronopathic form

id

MONDO:0009757