(Q28024512)

English

Cayman type cerebellar ataxia

human disease

Cayman cerebellar ataxia
ATCAY
CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
CEREBELLAR ATAXIA, CAYMAN TYPE
Cayman ataxia

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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

15 May 2019

autosomal recessive congenital cerebellar ataxia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

15 May 2019

autosomal recessive cerebellar ataxia

1 reference

30 November 2020

0 references

3 references

13 August 2019

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000167654/MONDO_0011025

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_0060694

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060694

2 references

10 July 2020

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C563363

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

28 August 2019

0 references

1 reference

30 November 2020

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

(Q28024512)

Cayman type cerebellar ataxia

Statements

Identifiers

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