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mitochondrial complex III deficiency nuclear type 1
Human disease
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016811
rare disease
0 references
class of disease
0 references
subclass of
mitochondrial complex III deficiency
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080111
mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016811
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080111
genetic association
BCS1L
2 references
stated in
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000074582/Orphanet_254902
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080111
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080111
http://identifiers.org/doid/DOID:0080111
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_254902
0 references
Identifiers
Disease Ontology ID
DOID:0080111
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080111
ICD-10-CM
E88.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016811
Mondo ID
MONDO_0016811
0 references
OMIM ID
124000
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080111
Orphanet ID
254902
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016811
UMLS CUI
C4274075
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-01982
0 references
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Multilingual sites
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