| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#comment | "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia."xsd:string |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/616491 |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN231733 |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, axonal, 2V"xsd:string |
| http://purl.uniprot.org/diseases/4496 | http://purl.uniprot.org/core/mnemonic | "CMT2V"xsd:string |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease, axonal, type 2V"xsd:string |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy, type 2V"xsd:string |
| http://purl.uniprot.org/diseases/4496 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V"xsd:string |
| http://purl.uniprot.org/uniprot/P54802#SIPC1D0B91B654FBF0E | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4496 |
| http://purl.uniprot.org/annotation/VAR_074607 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4496 |
| http://purl.uniprot.org/uniprot/#_B5A7004612EA0152_up.disease_857AD96401606653 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4496 |