(Q1640810)

English

hyper-IgD syndrome

No description defined

Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
Hyperimmunoglobinemia D with recurrent fever
HYPER-IgD SYNDROME; HIDS
Periodic Fever, Dutch Type
Hyperimmunoglobulinemia D and Periodic Fever Syndrome
HIDS

In more languages

Statements

hereditary disorder

0 references

designated intractable/rare disease

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

class of disease

0 references

hyperimmunoglobulin syndrome

0 references

mevalonic aciduria

0 references

genetic association

4 references

UniProt protein ID

13 August 2019

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000110921/MONDO_0009849

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4750

language of work or name

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

http://www.orpha.net/ORDO/Orphanet_343

0 references

Identifiers

PatientsLikeMe condition ID

hyper-igd-syndrome

0 references

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

1 reference

imported from Wikimedia project

English Wikipedia

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(6 entries)

arwiki فرط الغلوبولين المناعي د في الدم
dewiki Hyper-IgD-Syndrom
enwiki Hyper-IgD syndrome
eswiki Síndrome de Hiper-IgD
frwiki Fièvre récurrente avec hyper-IgD
plwiki Gorączka okresowa związana z hipergammaglobulinemią D

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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