Preferred Name

Niemann-Pick disease type C1
Synonyms

NPC1

Definitions

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.

ID

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

database cross reference

ICD10CM:E75.2

OMIM:257220

definition

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.

has_exact_synonym

NPC1

label

Niemann-Pick disease type C1

prefixIRI

DOID:0070113

prefLabel

Niemann-Pick disease type C1

subClassOf

http://purl.obolibrary.org/obo/DOID_14504

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