| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal 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. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration."xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619764 |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN306957 |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease, demyelinating, 1H"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://purl.uniprot.org/core/mnemonic | "CMT1H"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease, demyelinating, type 1H"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy, type 1H"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#altLabel | "HNARMD"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#altLabel | "Hereditary motor and sensory neuropathy, IH"xsd:string |
| http://purl.uniprot.org/diseases/6336 | http://www.w3.org/2004/02/skos/core#altLabel | "Neuropathy, hereditary, with or without age-related macular degeneration"xsd:string |
| http://purl.uniprot.org/uniprot/Q9UBX5#SIP31283813533C100B | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6336 |
| http://purl.uniprot.org/annotation/VAR_072393 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6336 |
| http://purl.uniprot.org/annotation/VAR_076289 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6336 |
| http://purl.uniprot.org/annotation/VAR_076290 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6336 |
| http://purl.uniprot.org/annotation/VAR_076291 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6336 |
| http://purl.uniprot.org/uniprot/#_9A0302C7B0AF270B_up.disease_58AFE39A00671D2D | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6336 |