About: mitochondrial complex III deficiency nuclear type 5

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About: mitochondrial complex III deficiency nuclear type 5 Goto Sponge NotDistinct Permalink

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mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has material basis in homozygous mutation in the UQCRC2 gene on chromosome 16p12

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has material basis in homozygous mutation in the UQCRC2 gene on chromosome 16p12 (en)
exact match	wds:Q26492809-622FB01D-FB0C-414A-AE87-C4062BB10575 wds:Q26492809-9047CC7C-50CC-41D8-97DA-2FDE8B26428B wds:Q26492809-F7274EBF-D748-4DEF-B14F-70FD7408E59D
exact match	http://purl.obolibrary.org/obo/DOID_0080114 http://identifiers.org/doid/DOID:0080114 http://www.orpha.net/ORDO/Orphanet_1460
Mondo ID	wds:Q26492809-8ED327CE-F572-49E6-A6F7-8122BA46A933
Disease Ontology ID	wds:Q26492809-F81668F5-A059-4911-845B-0A4511A7C0BC
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014066
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080114
Mondo ID	MONDO_0014066
Disease Ontology ID	DOID:0080114
rdfs:label	mitochondrial complex III deficiency nuclear type 5 (en)
skos:prefLabel	mitochondrial complex III deficiency nuclear type 5 (en)
name	mitochondrial complex III deficiency nuclear type 5 (en)
instance of	wds:Q26492809-37B3AA53-5793-464E-89B8-FE3A06F1AA0D wds:Q26492809-ABD7E38A-D509-47C7-AE51-E956F954DD8F
instance of	class of disease rare disease
subclass of	wds:Q26492809-1785B0BE-B8F6-4211-AE4F-A93EBBE83A85 wds:Q26492809-6A5E31BE-338D-482C-9356-EBD42F2C8808
subclass of	genetic disease mitochondrial complex III deficiency
UniProt disease ID	wds:Q26492809-f845a1e5-4c23-c278-f1a6-520704bbd470
genetic association	wds:Q26492809-3B30B304-FB0A-400D-967D-5E529CC8A884
OMIM ID	wds:Q26492809-1AD37321-7A74-4858-B67C-42901A7ADC85 wds:Q26492809-D2F76C6A-AE17-406F-BDEF-85E9E5765035
UniProt disease ID	DI-03739
genetic association	UQCRC2
OMIM ID	615160
skos:altLabel	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5 (en) MC3DN5 (en) MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (en)
UMLS CUI	wds:Q26492809-7DE0F78B-F063-4215-B02E-FD363A07C584
on focus list of Wikimedia project	wds:Q26492809-AB75F0C1-BD11-49EF-BA13-3B7604AC3C49
UMLS CUI	C3554608
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q26492809
is genetic association of	UQCRC2
is genetic association of	wds:Q18032298-E6DB4DAA-B407-4FA3-95EA-8C2B41FD0940

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