About: mitochondrial complex I deficiency

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Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q23542367-87169B40-165A-4E35-9309-065135FB7412 wds:Q23542367-D09D211A-E79E-499E-8A50-A9B9EA0734DF wds:Q23542367-E714E184-F58B-409D-B59A-79C9A5A3DB1D
exact match	http://purl.obolibrary.org/obo/DOID_0060536 http://identifiers.org/doid/DOID:0060536 http://www.orpha.net/ORDO/Orphanet_2609
Mondo ID	wds:Q23542367-4F60335A-D14F-4937-B87A-516E933D03B3
Disease Ontology ID	wds:Q23542367-4CE6818D-D56C-4F8F-BD3D-D3D021AB8B1F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009640
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060536
Mondo ID	MONDO_0009640
Disease Ontology ID	DOID:0060536
rdfs:label	deficienca mitohondrijskega kompleksa I (sl) déficit isolé en NADH-CoQ réductase (fr) mitochondrial complex I deficiency (en)
skos:prefLabel	deficienca mitohondrijskega kompleksa I (sl) déficit isolé en NADH-CoQ réductase (fr) mitochondrial complex I deficiency (en)
name	deficienca mitohondrijskega kompleksa I (sl) déficit isolé en NADH-CoQ réductase (fr) mitochondrial complex I deficiency (en)
instance of	wds:Q23542367-27EED3B9-A38E-4083-A4E3-739A4B9D9E70 wds:Q23542367-A8B35558-12BD-428A-B290-8A8E7C1DA0FD wds:Q23542367-E125443B-13A3-401F-833A-D95C403E3016
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q23542367-2B4CDBD5-5471-4F50-9E06-2F348A641B4B wds:Q23542367-69B9C618-B3BC-4565-A231-A7A76AE29F8E wds:Q23542367-872f465a-409f-29ea-ed38-54b18ef249d7 wds:Q23542367-889396AE-49C7-4D38-AE71-9BE08251C281 wds:Q23542367-D114A398-2E54-47C8-AB8D-7FF1EF92A21D
subclass of	mitochondrial disease syndromic neurometabolic disease with X-linked intellectual disability mitochondrial myopathy isolated oxidative phosphorylation complex disorder mitochondrial complex deficiency
KEGG ID	wds:Q23542367-81EC67C3-4BB4-423A-84F9-01E544541235
KEGG ID	http://www.kegg.jp/entry/H00473
KEGG ID	H00473
UniProt disease ID	wds:Q23542367-8d75d9cc-458c-1127-72f7-984b731e0918
Orphanet ID	wds:Q23542367-B0E1FC86-0911-4785-B1DA-A254AD5C3CB6
genetic association	wds:Q23542367-2A2D1062-2F20-4D76-A9E4-EE3D6F137033 wds:Q23542367-2AC9D969-18E1-4808-8A15-392159647890 wds:Q23542367-315C5419-387B-4783-AF84-5534838A2BF9 wds:Q23542367-32C50491-D51F-43F8-B3DD-69B226F05931 wds:Q23542367-570B27FD-BE6D-469E-B549-3E31AE0E38F6 wds:Q23542367-61BAF438-9329-4D71-95A7-3D9BFCA671E1 wds:Q23542367-7B3338B1-67C8-4609-8CF0-F2C8DD7460D4 wds:Q23542367-99DE4FF0-F836-4F6F-BB94-33789B29EC58 wds:Q23542367-9C970B01-7490-4F13-BE7A-A2FFFF5EE88B wds:Q23542367-9DB538DF-8F35-4522-9125-FCB908AA9DE4 wds:Q23542367-AD1D794E-773F-4B2C-AAF5-0EC7725CA25D wds:Q23542367-B32B4794-D1DE-4815-BC87-341E09169D29 wds:Q23542367-BFE7C310-9C49-4A23-A031-147B5909EE76 wds:Q23542367-CD356C89-BD9A-4546-8970-0D82EC479824 wds:Q23542367-D2C1E0E5-13E4-48C8-8769-5D550B80E30A wds:Q23542367-FB706DFF-8166-4BA9-ACCB-DE29BB5E84BE
ICD-10-CM	wds:Q23542367-BF52AC9D-42EB-4943-BDBE-80E9EF817A00
GARD rare disease ID	wds:Q23542367-56AEE296-205F-4E00-9DDF-19C58C846399
OMIM ID	wds:Q23542367-492EBD89-4125-499D-A2FC-16B3A07CFC07
Genetics Home Reference Conditions ID	wds:Q23542367-339C9B79-6A16-45A1-B167-A43E0488C040
UniProt disease ID	DI-01981
Orphanet ID	2609
genetic association	NDUFB3 NDUFAF3 NDUFAF4 NDUFAF2 NDUFS6 NDUFV2 NUBPL NDUFA11 NDUFS4 FOXRED1 NDUFA1 NDUFS2 NDUFS3 NDUFAF1 NDUFS1 NDUFV1
ICD-10-CM	G71.3
GARD rare disease ID	3908
OMIM ID	252010
Genetics Home Reference Conditions ID	mitochondrial-complex-i-deficiency
skos:altLabel	Complex 1 mitochondrial respiratory chain deficiency (en) Déficit isolé en complexe I de la chaîne respiratoire mitochondriale (fr) isolated mitochondrial respiratory chain complex I deficiency (en) Isolated complex I deficiency (en) MITOCHONDRIAL COMPLEX I DEFICIENCY (en) NADH coenzyme Q reductase deficiency (en) Nadh-Coenzyme Q Reductase Deficiency (en) Nadh:Q(1) Oxidoreductase Deficiency (en) isolated NADH-CoQ reductase deficiency (en) isolated NADH-coenzyme Q reductase deficiency (en) isolated NADH-ubiquinone reductase deficiency (en)

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