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spinocerebellar ataxia type 17
Human disease
Huntington disease-like 4
HDL4
SPINOCEREBELLAR ATAXIA 17; SCA17
Spinocerebellar Ataxia type 17
SCA17
SPINOCEREBELLAR ATAXIA 17
In more languages
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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_0011781
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:0050967
autosomal dominant cerebellar ataxia type I
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
Huntington's disease-like syndrome
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
miscellaneous movement disorder due to genetic neurodegenerative disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011781
genetic association
TBP
2 references
stated in
UniProt
UniProt protein ID
P20226
retrieved
13 August 2019
stated in
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C179861
mapping relation type
exact match
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050967
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050967
http://identifiers.org/doid/DOID:0050967
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_98759
0 references
Identifiers
MeSH descriptor ID
C564616
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
Disease Ontology ID
DOID:0050967
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050967
GARD rare disease ID
10469
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050967
ICD-10-CM
G11.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
Mondo ID
MONDO_0011781
0 references
OMIM ID
607136
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050967
Orphanet ID
98759
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
UMLS CUI
C1846707
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011781
UniProt disease ID
DI-01079
0 references
Sitelinks
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(0 entries)
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Wikinews
(0 entries)
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Wikiquote
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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
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Multilingual sites
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