DESCRIBE <http://purl.uniprot.org/diseases/4554>

Subject	Predicate	Object
http://purl.uniprot.org/diseases/4554	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#comment	"An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss."xsd:string
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/887
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/mim/616577
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/991
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D004827
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D006319
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D008607
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/medgen/CN233035
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2004/02/skos/core#prefLabel	"Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"xsd:string
http://purl.uniprot.org/diseases/4554	http://purl.uniprot.org/core/mnemonic	"NEDHSB"xsd:string
http://purl.uniprot.org/diseases/4554	http://www.w3.org/2004/02/skos/core#altLabel	"EHLMRS"xsd:string
http://purl.uniprot.org/uniprot/Q8NB90#SIP928AEE08DF3B35FB	http://purl.uniprot.org/core/disease	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075775	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075776	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075777	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075778	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075779	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075780	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075781	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075782	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075783	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075784	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554
http://purl.uniprot.org/annotation/VAR_075785	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4554