(Q55784910)

English

combined oxidative phosphorylation defect type 25

human disease

COXPD25
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
Combined Oxidative Phosphorylation Deficiency type 25
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25
combined oxidative phosphorylation deficiency 25

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Statements

instance of

head and neck disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014636

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

neurometabolic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014636

syndromic genetic deafness

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014636

combined oxidative phosphorylation deficiency

2 references

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

30 November 2020

autosomal recessive disease

1 reference

30 November 2020

2 references

13 August 2019

Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss

exact match

http://www.orpha.net/ORDO/Orphanet_447954

0 references

http://purl.obolibrary.org/obo/DOID_0111468

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111468

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

30 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

28 July 2018

0 references

(Q55784910)

combined oxidative phosphorylation defect type 25

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