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(Q56013891)
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English
autosomal recessive progressive external ophthalmoplegia
Autosomal recessive form of progressive external ophthalmoplegia
arPEO
progressive external ophthalmoplegia, autosomal recessive
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Statements
instance of
class of disease
0 references
subclass of
chronic progressive external ophthalmoplegia
0 references
mode of inheritance
autosomal recessive
0 references
genetic association
POLG
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000140521/MONDO_0016810
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_254886
0 references
Identifiers
MeSH descriptor ID
C564926
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016810
KEGG ID
H01395
0 references
ICD-10-CM
H49.4
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016810
ICD-11 (foundation)
1440469708
0 references
Mondo ID
MONDO_0016810
0 references
Orphanet ID
254886
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016810
UMLS CUI
C1850303
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0016810
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