http://purl.uniprot.org/diseases/264 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#comment | "A 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. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec."xsd:string |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/606482 |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1847902 |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, dominant intermediate B"xsd:string |
http://purl.uniprot.org/diseases/264 | http://purl.uniprot.org/core/mnemonic | "CMTDIB"xsd:string |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2004/02/skos/core#altLabel | "CMTDI1"xsd:string |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2004/02/skos/core#altLabel | "DI-CMTB"xsd:string |
http://purl.uniprot.org/diseases/264 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy dominant intermediate B"xsd:string |
http://purl.uniprot.org/uniprot/P50570#SIP3125AEAF37F51932 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/264 |
http://purl.uniprot.org/annotation/VAR_031966 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/264 |
http://purl.uniprot.org/annotation/VAR_031967 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/264 |
http://purl.uniprot.org/annotation/VAR_070164 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/264 |
http://purl.uniprot.org/uniprot/#_4FE1B6FF9CD600B5_up.disease_B9630CBA301FB329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/264 |