| http://purl.uniprot.org/diseases/271 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#comment | "A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet."xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/607678 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015417 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1843247 |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, demyelinating, 1D"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://purl.uniprot.org/core/mnemonic | "CMT1D"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease demyelinating type 1D"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy type 1D"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#altLabel | "HMSN ID"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#altLabel | "HMSN1D"xsd:string |
| http://purl.uniprot.org/diseases/271 | http://www.w3.org/2004/02/skos/core#altLabel | "Hereditary motor and sensory neuropathy ID"xsd:string |
| http://purl.uniprot.org/uniprot/P11161#SIP2E30EEC8F4143BC4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_007736 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_007738 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_009874 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_009875 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_029958 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_029959 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_083343 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/annotation/VAR_083345 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/271 |
| http://purl.uniprot.org/uniprot/#_12422600B750835C_up.disease_2BECB84919FB6ECF | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/271 |