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cerebroretinal microangiopathy with calcifications and cysts
medical condition
Coats plus syndrome
CRMCC
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
retinal vascular disease
0 references
health specialty
medical genetics
0 references
genetic association
STN1
2 references
stated in
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000107960/MONDO_0012815
based on heuristic
inferred from an Open Targets association score over 0.7
CTC1
2 references
stated in
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000178971/MONDO_0012815
based on heuristic
inferred from an Open Targets association score over 0.7
ICD-9-CM
348.89
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012815
exact match
http://www.orpha.net/ORDO/Orphanet_313838
0 references
Commons category
Cerebroretinal microangiopathy with calcifications and cysts
0 references
Identifiers
MeSH descriptor ID
C567401
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012815
KEGG ID
H02251
0 references
Genetics Home Reference Conditions ID
coats-plus-syndrome
0 references
ICD-10
Q87.8
1 reference
imported from Wikimedia project
English Wikipedia
H35.0
0 references
ICD-10-CM
H35.0
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012815
ICD-9 ID
759.89
1 reference
imported from Wikimedia project
English Wikipedia
Microsoft Academic ID
2779883994
0 references
Mondo ID
MONDO_0012815
0 references
Orphanet ID
313838
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012815
SNOMED CT ID
711482008
1 reference
imported from Wikimedia project
English Wikipedia
Wikimedia import URL
https://en.wikipedia.org/w/index.php?title=Cerebroretinal_microangiopathy_with_calcifications_and_cysts&oldid=951052142
Sitelinks
Wikipedia
(4 entries)
edit
arwiki
اعتلال الأوعية الدقيقة المخي الشبكي المصحوب بالتكلسات والأكياس
bswiki
Cerebroretinska mikroangiopatija s kalcifikacijama i cistama
dewiki
Coats-plus-Syndrom
enwiki
Cerebroretinal microangiopathy with calcifications and cysts
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
(1 entry)
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commonswiki
Category:Cerebroretinal microangiopathy with calcifications and cysts