About: mitochondrial DNA depletion syndrome 8b

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

Attributes	Values
type	Class
subClassOf	autosomal recessive disease mitochondrial DNA depletion syndrome nodeID://b50940139 nodeID://b50940140 nodeID://b50940141 nodeID://b50940142
label	mitochondrial DNA depletion syndrome 8b (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070331
database_cross_reference	MESH:C536350 OMIM:612075
has_exact_synonym	mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940143

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