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English
spastic ataxia 2
human disease
spastic ataxia type 2
SPAX2
Autosomal recessive spastic paraplegia type 58
Autosomal recessive spastic ataxia type 2
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
SPG58
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
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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_0012651
rare disease
0 references
class of disease
0 references
subclass of
spastic ataxia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050941
autosomal recessive spastic ataxia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012651
autosomal recessive complex spastic paraplegia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012651
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050941
genetic association
KIF1C
3 references
stated in
UniProt
UniProt protein ID
O43896
retrieved
13 August 2019
stated in
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000129250/MONDO_0012651
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C177252
mapping relation type
exact match
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050941
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050941
http://identifiers.org/doid/DOID:0050941
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_397946
0 references
Identifiers
Disease Ontology ID
DOID:0050941
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050941
ICD-10-CM
G11.4
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012651
Mondo ID
MONDO_0012651
0 references
OMIM ID
611302
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050941
Orphanet ID
397946
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012651
UMLS CUI
C1969796
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012651
UniProt disease ID
DI-04016
0 references
Sitelinks
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(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
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Wiktionary
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Multilingual sites
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