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spinocerebellar ataxia type 26
Human disease
SPINOCEREBELLAR ATAXIA 26; SCA26
SPINOCEREBELLAR ATAXIA 26
Spinocerebellar Ataxia type 26
SCA26
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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_0012246
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:0050975
autosomal dominant cerebellar ataxia type III
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012246
genetic association
EEF2
2 references
stated in
UniProt
UniProt protein ID
P13639
retrieved
13 August 2019
stated in
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050975
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050975
http://identifiers.org/doid/DOID:0050975
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_101112
0 references
Identifiers
MeSH descriptor ID
C537203
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012246
C537203
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050975
Disease Ontology ID
DOID:0050975
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050975
GARD rare disease ID
9995
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050975
ICD-10-CM
G11.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012246
Mondo ID
MONDO_0012246
0 references
OMIM ID
609306
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050975
Orphanet ID
101112
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012246
UMLS CUI
C1836395
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012246
UniProt disease ID
DI-03933
0 references
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Wikinews
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
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Multilingual sites
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