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Niemann-Pick Disease, Type C1 (MONDO:0009757)

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

Overview

Category

Ontology ID

Internal:10967

Synonyms

Niemann-Pick disease, type C1

type C1 Niemann-Pick disease

NPC1

Niemann-PICK disease, type C1

Niemann-Pick disease type C1

Niemann-Pick disease with cholesterol esterification block

Niemann-Pick disease without sphingomyelinase deficiency

Niemann-Pick disease, chronic neuronopathic form

Niemann-Pick disease, nova Scotian type

Niemann-Pick disease, subacute juvenile form

Niemann-Pick disease, type C

Niemann-Pick disease, type D

neurovisceral storage disease with vertical supranuclear ophthalmoplegia

Mapped terms

DOID:0070113

GARD:0024693

MEDGEN:465922

NCIT:C126864

OMIM:257220

SCTID:18927009

SCTID:67855008

UMLS:C3179455

Child terms

Unknown children.