SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/diseases/1681>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/diseases/1681
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1681
http://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/1681
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/keywords/367
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://id.nlm.nih.gov/mesh/D006627
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://id.nlm.nih.gov/mesh/D019465
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/medgen/C1836123
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/mim/609460
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2004/02/skos/core#prefLabel
"Goldberg-Shprintzen syndrome"
xsd:string
http://purl.uniprot.org/diseases/1681
http://purl.uniprot.org/core/mnemonic
"GOSHS"
xsd:string
http://purl.uniprot.org/diseases/1681
http://www.w3.org/2004/02/skos/core#altLabel
"Goldberg-Shprintzen megacolon syndrome"
xsd:string
http://purl.uniprot.org/uniprot/#_5407C8B8B5ED9E6A_up.disease_D5F5710FFFF89A38
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/diseases/1681
http://purl.uniprot.org/uniprot/Q96EK5#SIP0920FC764EA076CD
http://purl.uniprot.org/core/disease
http://purl.uniprot.org/diseases/1681