(Q203031)

English

ciliopathy

genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia

ciliopathies

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1 reference

30 November 2020

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15 May 2019

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30 November 2020

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Eukaryotic cilium diagram en.svg
505 × 431; 138 KB

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imported from Wikimedia project

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2 references

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000122735/EFO_0003900

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/15e32789-4f24-4870-94d3-b5618e67509f--2018-04-27T16:51:36

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15e32789-4f24-4870-94d3-b5618e67509f-2018-04-27T165136.294Z

1 reference

20 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477c8aba-eeba-43dc-a5e2-f6f84b127b8f-2021-10-13T160000.000Z

1 reference

27 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d-2021-07-14T160000.000Z

1 reference

3 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_961b81f6-7ad1-49e2-b675-c035b4d8d35d-2021-10-27T160000.000Z

on focus list of Wikimedia project

WikiProject Medicine

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exact match

http://purl.obolibrary.org/obo/DOID_0060340

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060340

1 reference

stated in

Identifiers.org

reference URL

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

Commons category

Ciliopathies

1 reference

inferred from

Category:Ciliopathy

topic's main category

Category:Ciliopathy

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Identifiers

MeSH descriptor ID

D000072661

subject named as

Ciliopathies

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1 reference

30 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

Experimental Factor Ontology ID

0003900

1 reference

based on heuristic

inferred by common MONDO mappings on source and on Wikidata

1 reference

28 October 2013

Microsoft Academic ID

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1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

0 references

1 reference

WikiUMLS: Aligning UMLS to Wikipedia via Cross-lingual Neural Ranking

(Q203031)

ciliopathy

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