| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#comment | "A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood."xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/310490 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D008607 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0795910 |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://purl.uniprot.org/core/mnemonic | "CMTX4"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#altLabel | "COWCK"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease X-linked recessive 4"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#altLabel | "Cowchock syndrome"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#altLabel | "NADMR"xsd:string |
| http://purl.uniprot.org/diseases/3693 | http://www.w3.org/2004/02/skos/core#altLabel | "NAMSD"xsd:string |
| http://purl.uniprot.org/uniprot/O95831#SIPDBD856163819AD9B | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3693 |
| http://purl.uniprot.org/annotation/VAR_069468 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3693 |
| http://purl.uniprot.org/uniprot/#_9FDA728DA3BDB32C_up.disease_B7CB3377C81DC6E6 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3693 |