Donohue syndrome (Q2467739)

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Human disease

• Leprechaunism
• LEPRCH

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Language	Label	Description	Also known as
English	Donohue syndrome	Human disease	Leprechaunism LEPRCH

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

autosomal recessive disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050470

diabetes

0 references

syndrome

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050470

image

PBB Protein INSR image.jpg
500 × 500; 35 KB

1 reference

imported from Wikimedia project

Dutch Wikipedia

health specialty

endocrinology

0 references

rheumatology

0 references

medical genetics

0 references

genetic association

INSR

2 references

stated in

Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000171105/Orphanet_508

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

C84676

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

C131000

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

exact match

http://purl.obolibrary.org/obo/DOID_0050470

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050470

http://identifiers.org/doid/DOID:0050470

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

D056731

subject named as

Donohue Syndrome

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

MeSH tree code

C05.660.207.325

0 references

C16.131.077.313

0 references

C16.320.215

0 references

C18.452.394.750.654

0 references

C19.246.537

0 references

KEGG ID

H00719

0 references

Disease Ontology ID

DOID:0050470

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050470

DiseasesDB

30801

1 reference

imported from Wikimedia project

English Wikipedia

Freebase ID

/m/01ld6l

1 reference

stated in

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

6885

0 references

Genetics Home Reference Conditions ID

donohue-syndrome

0 references

Microsoft Academic ID

2779085119

0 references

2910047434

0 references

Mondo ID

MONDO_0009517

0 references

OMIM ID

246200

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

Orphanet ID

508

0 references

UMLS CUI

C0265344

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

C0271695

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050470

UniProt disease ID

DI-01890

0 references

WikiProjectMed ID

Donohue syndrome

0 references

 

Sitelinks

Wikipedia(10 entries)

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• arwiki متلازمة دونوهيو
• bswiki Donohueov sindrom
• dewiki Leprechaunismus
• enwiki Donohue syndrome
• eswiki Síndrome de Donohue
• fiwiki Donohuen oireyhtymä
• itwiki Leprecaunismo
• nlwiki Syndroom van Donohue
• plwiki Leprechaunizm
• trwiki Donohue sendromu

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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