(Q55785062)

English

combined oxidative phosphorylation defect type 30

human disease

Combined Oxidative Phosphorylation Deficiency type 30
COXPD30
Combined Oxidative Phosphorylation Deficiency 30
combined oxidative phosphorylation deficiency 30

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

rare genetic developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

combined oxidative phosphorylation deficiency

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

http://www.orpha.net/ORDO/Orphanet_478042

0 references

http://purl.obolibrary.org/obo/DOID_0111471

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111471

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

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

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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