About: mitochondrial complex III deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III

Attributes	Values
rdf:type	Item
description	mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III (en)
exact match	wds:Q50349805-1E6AFFE2-3587-412A-93A7-6B28CE53F977 wds:Q50349805-549D5F47-6563-4173-9532-0B71C58B972E wds:Q50349805-874D3964-372A-47B2-A5FC-34A19E5701A8
exact match	http://www.orpha.net/ORDO/Orphanet_1460 http://purl.obolibrary.org/obo/DOID_0111139 http://identifiers.org/doid/DOID:0111139
Mondo ID	wds:Q50349805-960C6889-25DB-490E-8128-204A1F49662F
Disease Ontology ID	wds:Q50349805-55DB16D2-CCC0-4400-AF31-3792B5838F3D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015448
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111139
Mondo ID	MONDO_0015448
Disease Ontology ID	DOID:0111139
rdfs:label	deficienca mitohondrijskega kompleksa III (sl) déficit isolé en complexe III (fr) mitochondrial complex III deficiency (en)
skos:prefLabel	deficienca mitohondrijskega kompleksa III (sl) déficit isolé en complexe III (fr) mitochondrial complex III deficiency (en)
name	deficienca mitohondrijskega kompleksa III (sl) déficit isolé en complexe III (fr) mitochondrial complex III deficiency (en)
instance of	wds:Q50349805-51093582-E59D-45F2-B50D-BAF905E4CF12
instance of	class of disease
subclass of	wds:Q50349805-12C1C5A0-0819-4D69-96A3-0EF7CB5DE48E
subclass of	mitochondrial disease
KEGG ID	wds:Q50349805-1EEFC224-E0DD-4DE1-8BB0-01A0563DCC23
KEGG ID	http://www.kegg.jp/entry/H02086
KEGG ID	H02086
Orphanet ID	wds:Q50349805-03E7382E-8DA9-40DF-AFD8-4B44761C9ABA wds:Q50349805-3db10d79-43e0-21ab-0da7-fa4b8889f6e4
genetic association	wds:Q50349805-382311DD-4DDB-4CE3-BEB1-FC581B11E550 wds:Q50349805-6C808B37-43E2-4D86-B40C-C2A8D1B8BCED wds:Q50349805-ABAF21FD-CB3F-479B-BDB7-38F576E21619 wds:Q50349805-F78A58C7-5FB4-4E8E-BDA4-ECDC25AB5FE2
ICD-10-CM	wds:Q50349805-648C9676-D29D-4EE3-86A3-6821A9D0D410
GARD rare disease ID	wds:Q50349805-0874b585-4ad6-a16d-4f02-b644560a0821
Genetics Home Reference Conditions ID	wds:Q50349805-3A1A4157-EB80-42ED-A94F-1A115AB10CFD
Orphanet ID	1460
genetic association	CYC1 BCS1L LYRM7 TTC19
ICD-10-CM	G71.3
GARD rare disease ID	8295
Genetics Home Reference Conditions ID	mitochondrial-complex-iii-deficiency
skos:altLabel	Isolated ubiquinone-cytochrome C reductase deficiency (en) Isolated mitochondrial respiratory chain complex III deficiency (en) Isolated CoQ-cytochrome C reductase deficiency (en) Isolated complex III deficiency (en) coenzyme Q-cytochrome C reductase deficiency (en) déficit isolé en CoQ-cytochrome C oxydoréductase; (fr) Isolated coenzyme Q-cytochrome C reductase deficiency (en)
UMLS CUI	wds:Q50349805-BC04EF6A-D5F8-4578-A4FE-6B9CF05F5BAB
on focus list of Wikimedia project	wds:Q50349805-247F2B4A-2146-4D13-82C4-55C6CBA483EE
UMLS CUI	C1852372
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q50349805
is subclass of of	mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency nuclear type 2 mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency nuclear type 9 mitochondrial complex III deficiency nuclear type 6
is subclass of of	wds:Q26492807-0C36B273-C46B-42A1-9B87-533EE3CF298F wds:Q26492808-F224DBC9-11DA-4EC9-917E-2B5314D02069 wds:Q26492809-6A5E31BE-338D-482C-9356-EBD42F2C8808 wds:Q21124516-B4564591-BF44-4A14-B3F7-62489C6C00A5 wds:Q26492811-B8EEA98D-0DD9-45BA-AC92-D0D03507F784 wds:Q26492806-32E3B72F-A944-4546-A563-064C730411BC wds:Q26492812-93A251A6-8CB7-43CF-8F81-6F713575F39D wds:Q26492813-48CCE5FC-731D-41CE-985C-544017CE2E5C wds:Q26492810-C5EE7323-6C9C-4DC5-8AFC-E21641FFAD1D
is genetic association of	CYC1 BCS1L LYRM7 TTC19
is genetic association of	wds:Q17847759-B730D966-FABB-4A01-B2CD-6C2515A599A4 wds:Q18048403-537C7623-A000-429F-A81D-450C6545E006 wds:Q18041365-DF8D3E0E-D83E-4D0B-85DB-3DA2847628E5 wds:Q17911652-7B6684EF-AC76-44FC-B50F-A383D9B1BE05

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