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DESCRIBE <http://purl.uniprot.org/diseases/4427>
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http://purl.uniprot.org/diseases/4427
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#comment
"A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia."
xsd:string
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/mim/616368
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/keywords/242
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/keywords/550
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://id.nlm.nih.gov/mesh/D000015
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/medgen/CN230323
http://purl.uniprot.org/diseases/4427
http://www.w3.org/2004/02/skos/core#prefLabel
"CHOPS syndrome"
xsd:string
http://purl.uniprot.org/diseases/4427
http://purl.uniprot.org/core/mnemonic
"CHOPS"
xsd:string
http://purl.uniprot.org/uniprot/Q9UHB7#SIPBD7A2ACF7E0BAE7B
http://purl.uniprot.org/core/disease
http://purl.uniprot.org/diseases/4427
http://purl.uniprot.org/annotation/VAR_073790
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/4427
http://purl.uniprot.org/annotation/VAR_073791
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/4427
http://purl.uniprot.org/annotation/VAR_073792
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/4427
http://purl.uniprot.org/uniprot/#_20F49D509DBC1ABE_up.disease_D11A599864FEED92
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/diseases/4427