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DESCRIBE <http://purl.uniprot.org/diseases/4855>
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http://purl.uniprot.org/diseases/4855
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2000/01/rdf-schema#comment
"A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported."
xsd:string
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/mim/617169
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/keywords/991
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://id.nlm.nih.gov/mesh/D008607
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/medgen/CN238798
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2004/02/skos/core#prefLabel
"Intellectual developmental disorder, autosomal recessive 74"
xsd:string
http://purl.uniprot.org/diseases/4855
http://purl.uniprot.org/core/mnemonic
"MRT74"
xsd:string
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2004/02/skos/core#altLabel
"SOTOS3"
xsd:string
http://purl.uniprot.org/diseases/4855
http://www.w3.org/2004/02/skos/core#altLabel
"Sotos syndrome 3"
xsd:string
http://purl.uniprot.org/uniprot/O95996#SIPBE23830880FA858C
http://purl.uniprot.org/core/disease
http://purl.uniprot.org/diseases/4855
http://purl.uniprot.org/uniprot/#_A54A1558AD96D2B4_up.disease_EEA8469778FF9C66
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/diseases/4855