(Q55784885)

English

neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

human disease

COENZYME Q10 DEFICIENCY, PRIMARY, 7
COQ10D7
COQ4-related neonatal encephalomyopathy
Coenzyme Q10 Deficiency, Primary, type 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7

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instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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0 references

mitochondrial disease with hypertrophic cardiomyopathy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

13 August 2019

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

exact match

http://www.orpha.net/ORDO/Orphanet_457185

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Identifiers

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014562

(Q55784885)

neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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