http://purl.uniprot.org/diseases/4078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization."xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/155310 |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007418 |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0266833 |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1835084 |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#prefLabel | "Visceral myopathy 1"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://purl.uniprot.org/core/mnemonic | "VSCM1"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "MMIH"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "Megacystis-microcolon-intestinal hypoperistalsis syndrome"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "Berdon syndrome"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "Idiopathic intestinal pseudoobstruction"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "Infantile visceral myopathy"xsd:string |
http://purl.uniprot.org/diseases/4078 | http://www.w3.org/2004/02/skos/core#altLabel | "Megaduodenum and/or megacystis"xsd:string |
http://purl.uniprot.org/uniprot/P63267#SIP0A86D3B46C182041 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071280 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071281 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071282 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071283 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071285 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071289 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_071290 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_085866 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_085868 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |
http://purl.uniprot.org/annotation/VAR_085869 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4078 |