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DESCRIBE <http://purl.uniprot.org/diseases/1365>
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Object
http://purl.uniprot.org/diseases/1365
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2000/01/rdf-schema#comment
"A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum."
xsd:string
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/keywords/1274
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/mim/610498
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://id.nlm.nih.gov/mesh/D028361
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/medgen/C1864843
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2004/02/skos/core#prefLabel
"Combined oxidative phosphorylation deficiency 2"
xsd:string
http://purl.uniprot.org/diseases/1365
http://purl.uniprot.org/core/mnemonic
"COXPD2"
xsd:string
http://purl.uniprot.org/diseases/1365
http://www.w3.org/2004/02/skos/core#altLabel
"Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis"
xsd:string
http://purl.uniprot.org/uniprot/Q9Y3D3#SIP435D83D06FC65657
http://purl.uniprot.org/core/disease
http://purl.uniprot.org/diseases/1365
http://purl.uniprot.org/uniprot/#_E7D587F4199B0C98_up.disease_CF231897DF062F0B
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/diseases/1365