(Q25324253)

English

Congenital bilateral perisylvian syndrome

human disease

BPPX
Perisylvian Syndrome, Congenital Bilateral
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX
Bpp
Pmgx

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

bilateral polymicrogyria

0 references

genetic association

2 references

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000241973/MONDO_0020340

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning

http://www.orpha.net/ORDO/Orphanet_98889

0 references

Identifiers

GARD rare disease ID

0 references

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

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Monarch Disease Ontology release 2018-06-29

6 August 2018

Sitelinks

Wikipedia(1 entry)

enwiki Congenital bilateral perisylvian syndrome

Wikibooks(0 entries)

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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