(Q21097757)

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

28 July 2018

0 references

0 references

1 reference

30 November 2020

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

30 November 2020

3 references

13 August 2019

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

30 November 2020

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

1 reference

30 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

(Q21097757)

spastic ataxia 2

Statements

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