(Q55345911)

English

spinocerebellar ataxia, autosomal recessive 22; SCAR22

human disease

Spinocerebellar Ataxia, Autosomal Recessive type 22
Spinocerebellar Ataxia, Autosomal Recessive 22
SCAR22
autosomal recessive spinocerebellar ataxia 22

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

class of disease

0 references

autosomal recessive cerebellar ataxia

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

http://purl.obolibrary.org/obo/DOID_0111614

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111614

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

Sitelinks

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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