(Q55782498)

English

X-linked parkinsonism-spasticity syndrome

human disease

PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS
PARKINSONISM WITH SPASTICITY, X-LINKED
XPDS

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Statements

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class of disease

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rare parkinsonian syndrome due to genetic neurodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

movement disorders

1 reference

Disease Ontology

23 November 2020

Disease Ontology ID

X-linked recessive disease

1 reference

Disease Ontology

23 November 2020

Disease Ontology ID

genetic association

1 reference

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

http://www.orpha.net/ORDO/Orphanet_363654

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http://purl.obolibrary.org/obo/DOID_0112105

1 reference

Disease Ontology

23 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0112105

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

23 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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