| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy."xsd:string |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617519 |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D009468 |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN251650 |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2004/02/skos/core#prefLabel | "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness"xsd:string |
| http://purl.uniprot.org/diseases/5015 | http://purl.uniprot.org/core/mnemonic | "NEDHND"xsd:string |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2004/02/skos/core#altLabel | "CMND"xsd:string |
| http://purl.uniprot.org/diseases/5015 | http://www.w3.org/2004/02/skos/core#altLabel | "Myopathy, congenital, with neuropathy and deafness"xsd:string |
| http://purl.uniprot.org/uniprot/Q9H254#SIPEA8BAA52C136AD84 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5015 |
| http://purl.uniprot.org/annotation/VAR_079212 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5015 |
| http://purl.uniprot.org/uniprot/#_7B96E3A398A3783D_up.disease_D7224285FC338CE2 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5015 |