About: hyper-IgD syndrome

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

Attributes	Values
rdf:type	Item
description	Krankheit (de) malattia (it) хвороба (uk)
exact match	wds:Q1640810-F99034B8-33E5-43E4-8ADD-511EA720A80B
exact match	http://www.orpha.net/ORDO/Orphanet_343
Mondo ID	wds:Q1640810-B86B6E6C-92B3-45C4-959B-481335A7C456
DiseasesDB	wds:Q1640810-61710921-7B17-440D-9C86-D467CA8276E4
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009849
Mondo ID	MONDO_0009849
DiseasesDB	30161
rdfs:label	فرط الغلوبولين المناعي د في الدم (ar) Hyper-IgD-Syndrom (de) Síndrome de Hiper-IgD (es) 高免疫球蛋白D血症伴周期性发热综合征 (zh) fièvre récurrente avec hyper-IgD (fr) hyper-IgD syndrome (en) Gorączka okresowa związana z hipergammaglobulinemią D (pl)
skos:prefLabel	فرط الغلوبولين المناعي د في الدم (ar) Hyper-IgD-Syndrom (de) Síndrome de Hiper-IgD (es) 高免疫球蛋白D血症伴周期性发热综合征 (zh) fièvre récurrente avec hyper-IgD (fr) hyper-IgD syndrome (en) Gorączka okresowa związana z hipergammaglobulinemią D (pl)
name	فرط الغلوبولين المناعي د في الدم (ar) Hyper-IgD-Syndrom (de) Síndrome de Hiper-IgD (es) 高免疫球蛋白D血症伴周期性发热综合征 (zh) fièvre récurrente avec hyper-IgD (fr) hyper-IgD syndrome (en) Gorączka okresowa związana z hipergammaglobulinemią D (pl)
instance of	wds:Q1640810-6E189AF3-9880-43E1-97C9-FD6A67A863DB wds:Q1640810-7F53B5A0-77F7-4E49-BBB8-A5B7F442AE70 wds:Q1640810-82DCA3C1-F541-43F2-AEDA-B09644CBD149 wds:Q1640810-C524016C-2387-44EA-ADA0-76A5EFBD60DE
instance of	class of disease rare disease designated intractable/rare disease hereditary disorder
subclass of	wds:Q1640810-A7EEADE4-48F8-4B02-9C14-6AD9840A426A
subclass of	hyperimmunoglobulin syndrome
has cause	wds:Q1640810-20485D0A-613D-4E17-B033-C6C401A64DE0
has cause	mevalonic aciduria
UniProt disease ID	wds:Q1640810-3c0bf9e8-4d3f-16b5-d7f0-a97719999353
Orphanet ID	wds:Q1640810-A952A817-25D2-4CAC-8E31-69C7C9E211D3 wds:Q1640810-B6649170-1908-4EEC-8CE6-9BC05E2A2717
genetic association	wds:Q1640810-96021423-063F-47E0-9478-51E26FAFE559
ICD-10-CM	wds:Q1640810-567F8562-3AC1-48ED-98FE-420ED780CEA9
PatientsLikeMe condition ID	wds:Q1640810-ca06e820-446e-aad0-ef3a-c407ebf2b6af
GARD rare disease ID	wds:Q1640810-C6BBFE68-801F-4FF2-A83A-19C18ACCBE89
OMIM ID	wds:Q1640810-07E4AD6B-210F-46CF-92D8-DA03585E5C4A wds:Q1640810-75817034-A3A0-46C5-A2B6-86022B45ED1E
UniProt disease ID	DI-01768
Orphanet ID	343
genetic association	MVK
ICD-10-CM	E85.0
PatientsLikeMe condition ID	hyper-igd-syndrome
GARD rare disease ID	2788
OMIM ID	260920
skos:altLabel	HIDS (en) Fièvre périodique avec hyperimmunoglobulinémie D (fr) Fievre recurrente avec hyper-IgD (fr) Fièvre Récurrente Avec Hyper-IgD (fr) Fièvre périodique avec hyperimmunoglobulinémie (fr) Fièvre récurrente avec hyper-igd (fr) HYPER-IgD SYNDROME; HIDS (en) Hyper-Ig-D-Syndrom (de) Hyperimmunoglobinemia D with recurrent fever (en) Hyperimmunoglobulinemia D syndrome (en) Hyperimmunoglobulinemia D and Periodic Fever Syndrome (en) Partial mevalonate kinase deficiency (en) Periodic Fever, Dutch Type (en) Sindrome de Hiper-IgD (es)
external data available at URL	wds:Q1640810-7327378D-1983-4017-93E5-6E8C9602616E
UMLS CUI	wds:Q1640810-2D0ABB25-CEA8-402A-A372-BAEE461A1092
external data available at URL	http://www.nanbyou.or.jp/entry/4750
UMLS CUI	C0398691
is owl:sameAs of	hyper-IgD syndrome
is about of	https://de.wikipedia.org/wiki/Hyper-IgD-Syndrom https://pl.wikipedia.org/wiki/Gor%C4%85czka_okresowa_zwi%C4%85zana_z_hipergammaglobulinemi%C4%85_D https://www.wikidata.org/wiki/Special:EntityData/Q1640810 Hyper-IgD syndrome https://fr.wikipedia.org/wiki/Fi%C3%A8vre_r%C3%A9currente_avec_hyper-IgD https://ar.wikipedia.org/wiki/%D9%81%D8%B1%D8%B7_%D8%A7%D9%84%D8%BA%D9%84%D9%88%D8%A8%D9%88%D9%84%D9%8A%D9%86_%D8%A7%D9%84%D9%85%D9%86%D8%A7%D8%B9%D9%8A_%D8%AF_%D9%81%D9%8A_%D8%A7%D9%84%D8%AF%D9%85 https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Hiper-IgD
is main subject of	Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome Elevated serum level and altered glycosylation of alpha 1-acid glycoprotein in hyperimmunoglobulinemia D and periodic fever syndrome: evidence for persistent inflammation Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome Hyper-IgD syndrome with novel mutation in a Japanese girl A patient with hyper-IgD syndrome responding to simvastatin treatment

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