About: multiple mitochondrial dysfunctions syndrome 1

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease multiple mitochondrial dysfunctions syndrome nodeID://b50940461 nodeID://b50940462
label	multiple mitochondrial dysfunctions syndrome 1 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080133
database_cross_reference	GARD:12632 OMIM:605711 ORDO:401869
has_exact_synonym	NFU1 deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940463

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