http://purl.uniprot.org/diseases/2920 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#comment | "A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses."xsd:string |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/898 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/612674 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D001259 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002386 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D012174 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015417 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2675204 |
http://purl.uniprot.org/diseases/2920 | http://www.w3.org/2004/02/skos/core#prefLabel | "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"xsd:string |
http://purl.uniprot.org/diseases/2920 | http://purl.uniprot.org/core/mnemonic | "PHARC"xsd:string |
http://purl.uniprot.org/uniprot/Q8N2K0#SIPFC927C2A711DAC10 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081587 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081588 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081589 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081590 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081591 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081592 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081593 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/annotation/VAR_081594 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2920 |
http://purl.uniprot.org/uniprot/#_F5A4A74A956300FB_up.disease_C9FFC1DE2EE093E4 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2920 |