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(Q15815863)
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English
homozygous familial hypercholesterolemia
human disease
HoFH
In more languages
default for all languages
No label defined
No description defined
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Statements
instance of
designated intractable/rare disease
1 reference
reference URL
https://ddrare.nibiohn.go.jp/
retrieved
17 May 2019
class of disease
0 references
subclass of
familial hypercholesterolemia
0 references
genetic association
LDLRAP1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000157978/MONDO_0018328
based on heuristic
inferred from an Open Targets association score over 0.7
external data available at URL
http://www.nanbyou.or.jp/entry/65
language of work or name
Japanese
1 reference
reference URL
https://ddrare.nibiohn.go.jp/
retrieved
17 May 2019
exact match
http://www.orpha.net/ORDO/Orphanet_391665
0 references
Identifiers
MeSH descriptor ID
D000090542
subject named as
Homozygous Familial Hypercholesterolemia
0 references
MeSH tree code
C16.320.565.398.481.500
0 references
C18.452.584.500.500.644.475.500
0 references
C18.452.584.563.481.500
0 references
C18.452.648.398.481.500
0 references
Google Knowledge Graph ID
/g/1ym_k_c84
0 references
ICD-10-CM
E78.0
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018328
ICD-11 ID (Foundation)
1525871199
0 references
Mondo ID
MONDO_0018328
0 references
Orphanet ID
391665
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018328
UMLS CUI
C0342881
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018328
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Wikipedia
(1 entry)
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Homozygote familiäre Hypercholesterinämie
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