http://purl.uniprot.org/diseases/387 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome."xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/213 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/145900 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015417 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0011195 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN069172 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN069174 |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#prefLabel | "Dejerine-Sottas syndrome"xsd:string |
http://purl.uniprot.org/diseases/387 | http://purl.uniprot.org/core/mnemonic | "DSS"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease type 4F"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "CMT4F"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease demyelinating type 4F"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease type 3"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy type 4F"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "HMSN III"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "HMSN3"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Hereditary motor and sensory neuropathy III"xsd:string |
http://purl.uniprot.org/diseases/387 | http://www.w3.org/2004/02/skos/core#altLabel | "Hypertrophic neuropathy of Dejerine-Sottas"xsd:string |
http://purl.uniprot.org/uniprot/P08034#SIPEE6A0CFEFC449EC0 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/387 |
http://purl.uniprot.org/uniprot/P11161#SIP4D31D2677B67ECEC | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/387 |
http://purl.uniprot.org/uniprot/P25189#SIP07D26DC1D0ED79C4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/387 |
http://purl.uniprot.org/uniprot/Q01453#SIP755AEC959502841C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/387 |