| http://purl.uniprot.org/diseases/358 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves."xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/144 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/605253 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002607 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0393818 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3551756 |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#prefLabel | "Neuropathy, congenital hypomyelinating, 1, autosomal recessive"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://purl.uniprot.org/core/mnemonic | "CHN1"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth disease type 4E"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "CMT4E"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Charcot-Marie-Tooth neuropathy type 4E"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital amyelinating neuropathy"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Severe congenital hypomyelination"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital hypomyelinating neuropathy autosomal recessive"xsd:string |
| http://purl.uniprot.org/diseases/358 | http://www.w3.org/2004/02/skos/core#altLabel | "Neuropathy, congenital hypomyelinating or amyelinating"xsd:string |
| http://purl.uniprot.org/uniprot/P11161#SIPFD0803D9448C0CA7 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/358 |
| http://purl.uniprot.org/annotation/VAR_007735 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/358 |
| http://purl.uniprot.org/annotation/VAR_007737 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/358 |
| http://purl.uniprot.org/uniprot/#_A9B10EB0B7D35A5B_up.disease_CC2E668756061684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/358 |