http://purl.uniprot.org/diseases/947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms."xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/935 |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/258450 |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017246 |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1850303 |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#prefLabel | "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1"xsd:string |
http://purl.uniprot.org/diseases/947 | http://purl.uniprot.org/core/mnemonic | "PEOB1"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "CPEO"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "Chronic progressive external ophthalmoplegia"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "Graefe disease"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial ocular myopathy"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "Ocular myopathy of von Graefe-Fuchs"xsd:string |
http://purl.uniprot.org/diseases/947 | http://www.w3.org/2004/02/skos/core#altLabel | "Progressive external ophthalmoplegia autosomal recessive"xsd:string |
http://purl.uniprot.org/uniprot/P54098#SIPA6ACCAEFD36E57C8 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_012153 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_012154 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_012155 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_012156 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_014910 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_023663 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_023664 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_023665 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_023666 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |
http://purl.uniprot.org/annotation/VAR_023667 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/947 |