About: Dursun syndrome

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

rare genetic disease

Attributes	Values
rdf:type	Item
description	rare genetic disease (en)
rdfs:label	Dursun syndrome (en) syndrome de Dursun (fr)
skos:prefLabel	Dursun syndrome (en) syndrome de Dursun (fr)
name	Dursun syndrome (en) syndrome de Dursun (fr)
instance of	wds:Q69638170-8fcd6975-44fc-ec8e-a05b-4ddd682fff4f wds:Q69638170-983ADADE-D159-4ED6-A791-FE1D61B0433E
instance of	class of disease rare disease
subclass of	wds:Q69638170-cdad1929-41e4-7234-39ff-2bf56fc38d06
subclass of	severe congenital neutropenia
KEGG ID	wds:Q69638170-17BE3899-9C6B-47BD-A833-A67959DD8D55
KEGG ID	http://www.kegg.jp/entry/H00939
KEGG ID	H00939
UniProt disease ID	wds:Q69638170-804fd4a3-4c0f-4050-d9ab-6bbd5afad207
Orphanet ID	wds:Q69638170-ce2feb14-49fb-bf0b-6503-c64e4f34d790
genetic association	wds:Q69638170-604fc3ed-40ce-35c8-d177-78d5e07ae600
OMIM ID	wds:Q69638170-3eecf86f-458d-2646-31ba-b23824701bc0
UniProt disease ID	DI-02930
Orphanet ID	178503
genetic association	G6PC3
OMIM ID	612541
skos:altLabel	SCN4 (en) NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (en) neutropénie congénitale sévère type 4 (fr)
UMLS CUI	wds:Q69638170-90637b57-4e5a-78dd-5d2d-4ab9497883d5
MeSH descriptor ID	wds:Q69638170-21c23284-4f64-4926-84c6-9895d08cb3ca wds:Q69638170-6b7e64dc-4891-596d-0dcb-28d848f29739
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567260 http://id.nlm.nih.gov/mesh/C567804
UMLS CUI	C2751630
MeSH descriptor ID	C567260 C567804
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69638170
is main subject of	Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
is main subject of	wds:Q59698172-D1693F75-437B-4659-A228-147A3A84DDF5
is genetic association of	G6PC3
is genetic association of	wds:Q18048644-e6f061eb-4c3c-9727-059d-8344a4d77eab

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