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http://purl.uniprot.org/diseases/1681http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#comment"A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease."xsd:string
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/367
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D006627
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D019465
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C1836123
http://purl.uniprot.org/diseases/1681http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/609460
http://purl.uniprot.org/diseases/1681http://www.w3.org/2004/02/skos/core#prefLabel"Goldberg-Shprintzen syndrome"xsd:string
http://purl.uniprot.org/diseases/1681http://purl.uniprot.org/core/mnemonic"GOSHS"xsd:string
http://purl.uniprot.org/diseases/1681http://www.w3.org/2004/02/skos/core#altLabel"Goldberg-Shprintzen megacolon syndrome"xsd:string
http://purl.uniprot.org/uniprot/#_5407C8B8B5ED9E6A_up.disease_D5F5710FFFF89A38http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/1681
http://purl.uniprot.org/uniprot/Q96EK5#SIP0920FC764EA076CDhttp://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1681