combined oxidative phosphorylation deficiency (Q18987134)

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Human disease

mitochondrial disorder due to a defect in mitochondrial protein synthesis
COXPD
Combined OXPHOS deficiency
Combined oxidative phosphorylation defect
Combined OXPHOS defect

Language	Label	Description	Also known as
English	combined oxidative phosphorylation deficiency	Human disease	mitochondrial disorder due to a defect in mitochondrial protein synthesis COXPD Combined OXPHOS deficiency Combined oxidative phosphorylation defect Combined OXPHOS defect

Statements

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developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

class of disease

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mitochondrial disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

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1 reference

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

1 reference

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

1 reference

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

1 reference

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

1 reference

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

1 reference

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

1 reference

Targeted exome sequencing of suspected mitochondrial disorders

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Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

1 reference

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

1 reference

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

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Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

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ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

1 reference

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

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Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

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Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

1 reference

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000027001/Orphanet_35696

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000074071/Orphanet_35696

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

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http://purl.obolibrary.org/obo/DOID_0060286

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0060286

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_35696

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Identifiers

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Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

27 July 2018

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Sitelinks

Wikipedia(0 entries)

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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