http://purl.uniprot.org/diseases/2769 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs."xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613376 |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D009134 |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3150619 |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#prefLabel | "Neuronopathy, distal hereditary motor, autosomal dominant 4"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://purl.uniprot.org/core/mnemonic | "HMND4"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "Distal hereditary motor neuropathy type IIC"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "HMN IIC"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "HMN2C"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "Neuronopathy, distal hereditary motor, 2C"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "dHMN IIC"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "dHMN2C"xsd:string |
http://purl.uniprot.org/diseases/2769 | http://www.w3.org/2004/02/skos/core#altLabel | "Neuropathy, distal hereditary motor, autosomal dominant 4"xsd:string |
http://purl.uniprot.org/uniprot/Q12988#SIP82A6A879A10AB6D8 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2769 |
http://purl.uniprot.org/annotation/VAR_063773 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2769 |
http://purl.uniprot.org/uniprot/#_947896DC8713A1AA_up.disease_3A5CE623AAB43FFA | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2769 |