(Q18987133)

English

parietal foramina

Human disease

Caitlin marks
enlarged parietal foramina
hereditary cranium bifidum
Foramina parietalia permagna
Catlin marks
Fenestrae parietales symmetricae
Symmetric parietal foramina

In more languages

Statements

hereditary disorder

0 references

0 references

class of disease

0 references

neural tube defect

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

anatomical location

Parietal foramen

0 references

genetic association

4 references

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

7 September 2020

https://search.clinicalgenome.org/kb/gene-validity/2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade--2020-08-20T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade-2020-07-08T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000120149/MONDO_0018953

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000052850/MONDO_0018953

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060285

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060285

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0002697

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_60015

0 references

Identifiers

MeSH descriptor ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Human Phenotype Ontology ID

2 references

Monarch Disease Ontology release 2018-06-29

7 August 2018

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

ICD-11 (foundation)

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Sitelinks

Wikipedia(2 entries)

dewiki Foramina parietalia permagna
eswiki Agujeros parietales agrandados

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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