(Q17143464)

English

Pretzel syndrome

human disease

polyhydramnios, megalencephaly, and symptomatic epilepsy
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY
PMSE
Pmse Syndrome
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE

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Statements

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1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000266173/MONDO_0012611

based on heuristic

inferred from an Open Targets association score over 0.7

Identifiers

MeSH descriptor ID

C567020

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012611

Sitelinks

Wikipedia(1 entry)

enwiki Pretzel syndrome

(Q17143464)

Pretzel syndrome

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Identifiers

Sitelinks

Wikipedia(1 entry)

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