http://purl.uniprot.org/diseases/138 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy."xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/208920 |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D001072 |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002524 |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1859598 |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ataxia-oculomotor apraxia syndrome"xsd:string |
http://purl.uniprot.org/diseases/138 | http://purl.uniprot.org/core/mnemonic | "AOA"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "AOA1"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "Ataxia-oculomotor apraxia 1"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "Cerebellar ataxia early-onset with hypoalbuminemia"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "EAOH"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "EOCA-HA"xsd:string |
http://purl.uniprot.org/diseases/138 | http://www.w3.org/2004/02/skos/core#altLabel | "Ataxia early-onset with oculomotor apraxia and hypoalbuminemia"xsd:string |
http://purl.uniprot.org/uniprot/Q7Z2E3#SIP12398C34050A663F | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018794 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018795 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018796 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018797 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018798 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018799 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018800 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_018801 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |
http://purl.uniprot.org/annotation/VAR_025365 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/138 |