(Q55784930)

English

combined oxidative phosphorylation defect type 26

human disease

Combined Oxidative Phosphorylation Deficiency type 26
COXPD26
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
combined oxidative phosphorylation deficiency 26

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

combined oxidative phosphorylation deficiency

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

29 November 2021

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

http://www.orpha.net/ORDO/Orphanet_477684

0 references

http://purl.obolibrary.org/obo/DOID_0111490

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0111490

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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