About: multiple mitochondrial dysfunctions syndrome 2

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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://b50940464
label	multiple mitochondrial dysfunctions syndrome 2 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080134
database_cross_reference	GARD:12632 OMIM:614299 ORDO:401874
has_exact_synonym	multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (en) BOLA3 deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940465

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