(Q32145623)

English

Joubert syndrome 14

human disease

JBTS14
Joubert syndrome type 14
JOUBERT SYNDROME 14
JOUBERT SYNDROME 14; JBTS14

In more languages

Statements

class of disease

0 references

Joubert syndrome

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

Disease Ontology

29 November 2020

Disease Ontology ID

Joubert syndrome with oculorenal defect

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

Joubert syndrome with ocular defect

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/--2020-08-27T13:32:03

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6b843c9-8fc3-4d61-8195-29aed5e7d700-2021-04-26T121051.373Z

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110983

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110983

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_220493

0 references

http://www.orpha.net/ORDO/Orphanet_220497

0 references

http://www.orpha.net/ORDO/Orphanet_2318

0 references

http://www.orpha.net/ORDO/Orphanet_475

0 references

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

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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