(Q26492826)

English

multiple mitochondrial dysfunctions syndrome 1

Human disease

NFU1 deficiency
MMDS1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Multiple Mitochondrial Dysfunctions Syndrome type 1
Mmds
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

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

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

fatal multiple mitochondrial dysfunctions syndrome

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000169599/MONDO_0011582

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0080133

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080133

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

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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