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hypoplasminogenemia
medical condition
Ligneous Conjunctivitis
PLASMINOGEN DEFICIENCY, TYPE I
Dysplasminogenemia
Plasminogen deficiency type 1
Hypoplasminogenemia
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Statements
instance of
class of disease
0 references
subclass of
coagulation protein disease
0 references
genetic association
PLG
4 references
stated in
UniProt
UniProt protein ID
P00747
retrieved
13 August 2019
stated in
ClinGen
retrieved
9 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/2c9320e7-9f02-4b54-beba-0ca781a442eb--2019-10-23T16:00:00
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9320e7-9f02-4b54-beba-0ca781a442eb-2019-10-23T160000.000Z
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000122194/MONDO_0009009
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_722
0 references
Identifiers
MeSH descriptor ID
C580017
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
KEGG ID
H01206
0 references
ICD-10-CM
L90.5
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
ICD-11 (foundation)
1240776230
0 references
ICD-11 ID (MMS)
DA0D.3
subject named as
Hypoplasminogenaemia
0 references
Mondo ID
MONDO_0009009
0 references
OMIM ID
217090
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
Orphanet ID
722
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
UMLS CUI
C1968804
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
C0398621
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0009009
UniProt disease ID
DI-02666
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Hypoplasminogenemia
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