(Q21127479)

English

Cole-Carpenter syndrome

osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

In more languages

Statements

0 references

class of disease

0 references

osteogenesis imperfecta

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

symptoms and signs

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

1 reference

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

2 references

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000185624/MONDO_0016085

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C130985

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

C130985

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_0060438

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060438

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_2050

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

29 November 2020

Disease Ontology ID

GARD rare disease ID

0 references

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

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

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

WikiProjectMed ID

Cole–Carpenter syndrome

0 references

Sitelinks

Wikipedia(2 entries)

dewiki Cole-Carpenter-Syndrom
enwiki Cole–Carpenter 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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q21127479&oldid=2087257151"