http://purl.uniprot.org/diseases/3128 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2000/01/rdf-schema#comment | "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features."xsd:string |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613970 |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D008607 |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3151411 |
http://purl.uniprot.org/diseases/3128 | http://www.w3.org/2004/02/skos/core#prefLabel | "Intellectual developmental disorder, autosomal dominant 6, with or without seizures"xsd:string |
http://purl.uniprot.org/diseases/3128 | http://purl.uniprot.org/core/mnemonic | "MRD6"xsd:string |
http://purl.uniprot.org/uniprot/Q13224#SIPD37A3681F74EA01F | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_065900 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_069384 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_076764 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_078647 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_079947 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_079948 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_079949 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/annotation/VAR_079950 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3128 |
http://purl.uniprot.org/uniprot/#_FA2DA88F89314A75_up.disease_4C1B4E48AFBA1BB0 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3128 |