(Q55345743)

English

X-linked progressive cerebellar ataxia

human disease

Opca, X-Linked
Spinocerebellar Ataxia, X-Linked type 1
SCAX1
Olivopontocerebellar Atrophy, X-Linked
SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1
SPINOCEREBELLAR ATAXIA, X-LINKED 1

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

X-linked cerebellar ataxia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

X-linked intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

http://www.orpha.net/ORDO/Orphanet_1175

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

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

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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