Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

Niemann-Pick disease type E
Synonyms
Definitions

Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.

ID

http://purl.obolibrary.org/obo/MONDO_0020384

database_cross_reference

Orphanet:99022

SCTID:73399005

MEDGEN:82781

UMLS:C0268248

definition

Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.

id

MONDO:0020384

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

label

Niemann-Pick disease type E

notation

MONDO:0020384

preferred label

Niemann-Pick disease type E

prefLabel

Niemann-Pick disease type E

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0268248

http://identifiers.org/medgen/82781

http://identifiers.org/snomedct/73399005

subClassOf

http://www.ebi.ac.uk/efo/EFO_1001380

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