(Q55784313)

English

lethal encephalopathy due to mitochondrial and peroxisomal fission defect

human disease

ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
EMPF
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION; EMPF

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

mitochondrial oxidative phosphorylation disorder with no known mechanism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013726

rare genetic developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013726

neurometabolic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

5 references

13 August 2019

A lethal defect of mitochondrial and peroxisomal fission

31 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_320f4ab3-19c3-458e-9e81-0f380cbfebbd-2020-08-05T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000087470/MONDO_0013726

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000087470/Orphanet_330050

based on heuristic

inferred from an Open Targets association score over 0.7

MFF

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000168958/Orphanet_330050

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_330050

0 references

Identifiers

0 references

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

retrieved

28 July 2018

Mondo ID

MONDO_0013726

(Q55784313)

lethal encephalopathy due to mitochondrial and peroxisomal fission defect

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