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spinocerebellar ataxia type 13
Human disease
SPINOCEREBELLAR ATAXIA 13
Spinocerebellar Ataxia type 13
SCA13
SPINOCEREBELLAR ATAXIA 13; SCA13
In more languages
default values for all languages
No label defined
No description defined
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011529
rare disease
0 references
class of disease
0 references
subclass of
spinocerebellar ataxia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050963
autosomal dominant cerebellar ataxia type I
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011529
health specialty
neurology
0 references
genetic association
KCNC3
3 references
stated in
UniProt
UniProt protein ID
Q14003
retrieved
13 August 2019
stated in
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000131398/MONDO_0011529
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050963
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050963
http://identifiers.org/doid/DOID:0050963
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_98768
0 references
Identifiers
MeSH descriptor ID
C537195
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011529
Disease Ontology ID
DOID:0050963
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050963
DiseasesDB
12339
1 reference
imported from Wikimedia project
English Wikipedia
eMedicine ID
1153370
1 reference
imported from Wikimedia project
English Wikipedia
GARD rare disease ID
9611
0 references
ICD-10
G11.2
1 reference
imported from Wikimedia project
English Wikipedia
ICD-10-CM
G11.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011529
ICD-9 ID
334.9
1 reference
imported from Wikimedia project
English Wikipedia
Microsoft Academic ID
2776395606
0 references
Mondo ID
MONDO_0011529
0 references
OMIM ID
605259
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050963
Orphanet ID
98768
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011529
SNOMED CT ID
719209002
1 reference
imported from Wikimedia project
English Wikipedia
Wikimedia import URL
https://en.wikipedia.org/w/index.php?title=Spinocerebellar_ataxia_type-13&oldid=948389923
UMLS CUI
C1854488
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011529
UniProt disease ID
DI-01076
0 references
WikiProjectMed ID
Spinocerebellar ataxia type-13
0 references
Sitelinks
Wikipedia
(3 entries)
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bswiki
Spinocerebelumska ataksija tip-13
dewiki
Spinozerebelläre Ataxie Typ 13
enwiki
Spinocerebellar ataxia type-13
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
(0 entries)
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