| http://purl.uniprot.org/diseases/79 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis."xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/203700 |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002549 |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0205710 |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#prefLabel | "Mitochondrial DNA depletion syndrome 4A"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://purl.uniprot.org/core/mnemonic | "MTDPS4A"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "AHS"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Alpers-Huttenlocher syndrome"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Alpers progressive infantile poliodystrophy"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Alpers syndrome"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "PNDC"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 4A Alpers type"xsd:string |
| http://purl.uniprot.org/diseases/79 | http://www.w3.org/2004/02/skos/core#altLabel | "Neuronal degeneration of childhood with liver disease progressive"xsd:string |
| http://purl.uniprot.org/uniprot/P54098#SIPACE7D09E07BA03C2 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_012155 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023664 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023671 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023673 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023674 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023675 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |
| http://purl.uniprot.org/annotation/VAR_023686 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/79 |