| http://purl.uniprot.org/diseases/285 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#comment | "A recessive 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. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence."xsd:string |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/214400 |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1859198 |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2004/02/skos/core#prefLabel | "Charcot-Marie-Tooth disease 4A"xsd:string |
| http://purl.uniprot.org/diseases/285 | http://purl.uniprot.org/core/mnemonic | "CMT4A"xsd:string |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A"xsd:string |
| http://purl.uniprot.org/diseases/285 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease neuropathy type 4A"xsd:string |
| http://purl.uniprot.org/uniprot/Q8TB36#SIP2A6378DE5E5BF483 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/285 |
| http://purl.uniprot.org/annotation/VAR_017184 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/285 |
| http://purl.uniprot.org/annotation/VAR_017185 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/285 |
| http://purl.uniprot.org/uniprot/#_BBCC4B9998159DD4_up.disease_071410D628DA123D | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/285 |