mevalonic aciduria (Q3043158)

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Human disease

• Mevalonate Kinase Deficiency
• Mevalonate kinase deficiency
• MVA
• Complete mevalonate kinase deficiency
• Mevalonicaciduria
• MEVALONIC ACIDURIA
• MEVA
• Hyperimmunoglobulin D with Periodic Fever Syndrome
• MKD
• MEVALONIC ACIDURIA; MEVA

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Language	Label	Description	Also known as
English	mevalonic aciduria	Human disease	Mevalonate Kinase Deficiency Mevalonate kinase deficiency MVA Complete mevalonate kinase deficiency Mevalonicaciduria MEVALONIC ACIDURIA MEVA Hyperimmunoglobulin D with Periodic Fever Syndrome MKD MEVALONIC ACIDURIA; MEVA

Statements

instance of

rare disease

0 references

class of disease

0 references

subclass of

peroxisomal disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050452

genetic disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050452

image

Mevalonic.jpg
577 × 830; 82 KB

0 references

health specialty

hematology

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neurology

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immunology

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medical genetics

0 references

endocrinology

0 references

mode of inheritance

autosomal recessive

0 references

genetic association

MVK

2 references

stated in

UniProt

UniProt protein ID

Q03426

retrieved

13 August 2019

stated in

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C84890

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

C84890

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

exact match

http://purl.obolibrary.org/obo/DOID_0050452

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050452

http://identifiers.org/doid/DOID:0050452

1 reference

stated in

Identifiers.org

reference URL

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

Commons category

Mevalonate kinase deficiency

0 references

Identifiers

MeSH descriptor ID

D054078

subject named as

Mevalonate Kinase Deficiency

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

MeSH tree code

C10.228.140.163.100.593

0 references

C15.378.147.542.319

0 references

C16.320.382.750

0 references

C16.320.565.189.593

0 references

C16.320.565.663.430

0 references

C18.452.132.100.593

0 references

C18.452.648.189.593

0 references

C18.452.648.663.430

0 references

C20.683.460.319

0 references

KEGG ID

H00206

0 references

BabelNet ID

03651621n

1 reference

stated in

BabelNet

Disease Ontology ID

DOID:0050452

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0050452

DiseasesDB

29843

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

3588

2 references

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

Genetics Home Reference Conditions ID

mevalonate-kinase-deficiency

0 references

ICD-10-CM

M04.1

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

E88.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

ICD-11 (foundation)

572875152

0 references

Microsoft Academic ID

2777444944

0 references

2781289304

0 references

Mondo ID

MONDO_0012481

0 references

OMIM ID

610377

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

610377

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

Orphanet ID

29

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

309025

0 references

29

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

SNOMED CT ID

124327008

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Mevalonate_kinase_deficiency&oldid=948396784

UMLS CUI

C0342731

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

C0398691

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

C1959626

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0050452

C1959626

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

C0342731

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

C0398691

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012481

UniProt disease ID

DI-01975

0 references

 

Sitelinks

Wikipedia(7 entries)

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• arwiki عوز أنزيم ميفالونات كيناز
• dewiki Mevalonatkinase-Mangel
• enwiki Mevalonate kinase deficiency
• fawiki کمبود موالونات کیناز
• frwiki Déficit en mévalonate kinase
• mkwiki Синдром на хиперимуноглобулинемија Д
• plwiki Acyduria mewalonianowa

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(1 entry)

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• commonswiki Category:Mevalonate kinase deficiency

Retrieved from "https://www.wikidata.org/w/index.php?title=Q3043158&oldid=2087103686"