(Q17119115)

English

ethylmalonic encephalopathy

Human disease

Encephalopathy, petechiae, and ethylmalonic aciduria
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
EME
ENCEPHALOPATHY, ETHYLMALONIC
EE
EPEMA syndrome
ENCEPHALOPATHY, ETHYLMALONIC; EE

In more languages

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

mitochondrial disease

1 reference

30 November 2020

unspecified mitochondrial disorder

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

0 references

1 reference

30 November 2020

3 references

13 August 2019

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000105755/MONDO_0011229

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060640

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060640

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_51188

0 references

Identifiers

MeSH descriptor ID

C535737

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

30 November 2020

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

28 August 2019

Genetics Home Reference Conditions ID

ethylmalonic-encephalopathy

0 references

ICD-10-CM

G31.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011229

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Ethylmalonic_encephalopathy&oldid=948373563

1 reference

28 August 2019

0 references

Ethylmalonic encephalopathy

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Ethylmalonic encephalopathy

(Q17119115)

ethylmalonic encephalopathy

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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