DESCRIBE <http://purl.uniprot.org/diseases/6272>

Subject	Predicate	Object
http://purl.uniprot.org/diseases/6272	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#comment	"An autosomal recessive neurodevelopmental disorder characterized by hearing loss, global developmental delay, impaired intellectual development, hypotonia, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly."xsd:string
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/887
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/mim/619616
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/991
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D065886
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/medgen/CN304367
http://purl.uniprot.org/diseases/6272	http://www.w3.org/2004/02/skos/core#prefLabel	"Neurodevelopmental disorder with hearing loss and spasticity"xsd:string
http://purl.uniprot.org/diseases/6272	http://purl.uniprot.org/core/mnemonic	"NEDHLS"xsd:string
http://purl.uniprot.org/uniprot/Q9BVQ7#SIPE1944E1BF6C167FD	http://purl.uniprot.org/core/disease	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086544	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086545	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086546	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086547	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086548	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086549	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086550	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086552	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086553	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086554	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086555	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086556	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086558	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272
http://purl.uniprot.org/annotation/VAR_086559	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/6272