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(Q56013972)
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English
Marfan syndrome type 2
hypothesized form of Marfan; dubious
Marfan Syndrome Type II
MFS2
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Statements
instance of
class of disease
0 references
genetic association
TGFBR2
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000163513/Orphanet_284973
based on heuristic
inferred from an Open Targets association score over 0.7
NCI Thesaurus ID
C75007
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017308
exact match
http://www.orpha.net/ORDO/Orphanet_284973
0 references
said to be the same as
Loeys-Dietz syndrome 2
0 references
Identifiers
ICD-10-CM
Q87.4
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017308
Mondo ID
MONDO_0017308
0 references
Orphanet ID
284973
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017308
UMLS CUI
C2698016
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017308
C2931058
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017308
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