(Q4907578)

English

Bilateral frontoparietal polymicrogyria

medical condition

Cerebellar Ataxia With Neuronal Migration Defect
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
BFPP
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

2 references

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

stated in

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene in Pakistani Intellectual Disability Families

3 references

13 August 2019

G protein-coupled receptor-dependent development of human frontal cortex

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000205336/MONDO_0011738

based on heuristic

inferred from an Open Targets association score over 0.7

COL3A1

2 references

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

type of reference

review article

stated in

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

2 references

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

intracranial hemorrhage

2 references

inferred from

case report

stated in

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

type of reference

review article

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

bilateral talipes equinovarus

2 references

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

type of reference

review article

stated in

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Neurodevelopmental delay

2 references

stated in

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

type of reference

review article

stated in

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

NCI Thesaurus ID

C148367

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_101070

0 references

http://www.orpha.net/ORDO/Orphanet_268940

0 references

Identifiers

MeSH descriptor ID

C564652

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011738

Microsoft Academic ID

0 references

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Bilateral frontoparietal polymicrogyria

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Bilateral frontoparietal polymicrogyria

(Q4907578)

Bilateral frontoparietal polymicrogyria

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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