| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6681 | 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. CMT2GG is an autosomal dominant form characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. Some individuals may also have involvement of the hands."xsd:string |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/606483 |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C5561933 |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, axonal, 2GG"xsd:string |
| http://purl.uniprot.org/diseases/6681 | http://purl.uniprot.org/core/mnemonic | "CMT2GG"xsd:string |
| http://purl.uniprot.org/diseases/6681 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease, axonal, type 2GG"xsd:string |
| http://purl.uniprot.org/uniprot/Q92538#SIP87EE8241F9E55FFF | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6681 |
| http://purl.uniprot.org/annotation/VAR_088570 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6681 |
| http://purl.uniprot.org/annotation/VAR_088571 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6681 |
| http://purl.uniprot.org/annotation/VAR_088572 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6681 |
| http://purl.uniprot.org/annotation/VAR_088573 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6681 |
| http://purl.uniprot.org/uniprot/#_2B1EF3494E0144E2_up.disease_C43397EA1DD37F9E | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6681 |