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(Q2622714)
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English
cholesterol ester storage disease
lysosomal storage disease
Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
In more languages
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
lysosomal and lipase deficiency
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14502
health specialty
endocrinology
0 references
genetic association
LIPA
2 references
stated in
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000107798/MONDO_0019149
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_14502
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14502
http://identifiers.org/doid/DOID:14502
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_75234
0 references
Identifiers
MeSH descriptor ID
D015217
mapping relation type
close match
subject named as
Cholesterol Ester Storage Disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019149
MeSH tree code
C16.320.565.398.641.201
0 references
C16.320.565.595.201
0 references
C18.452.584.563.641.201
0 references
C18.452.648.398.641.201
0 references
C18.452.648.595.201
0 references
Disease Ontology ID
DOID:14502
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14502
GARD rare disease ID
12099
0 references
ICD-10
E75.5
1 reference
imported from Wikimedia project
English Wikipedia
ICD-10-CM
E75.5
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019149
ICD-9 ID
272.7
1 reference
imported from Wikimedia project
English Wikipedia
Microsoft Academic ID
2776358615
0 references
Mondo ID
MONDO_0019149
0 references
OMIM ID
278000
1 reference
imported from Wikimedia project
English Wikipedia
Orphanet ID
75234
0 references
75234
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019149
UMLS CUI
C0008384
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14502
C0008384
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019149
UniProt disease ID
DI-00301
0 references
Sitelinks
Wikipedia
(3 entries)
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dewiki
Cholesterinester-Speicherkrankheit
fiwiki
Kolesteroliesterien varastoitumissairaus
frwiki
Maladie de surcharge en esters de cholestérol
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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