http://purl.uniprot.org/diseases/1143 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2000/01/rdf-schema#comment | "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma."xsd:string |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/277600 |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D056846 |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1869114 |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2004/02/skos/core#prefLabel | "Weill-Marchesani syndrome 1"xsd:string |
http://purl.uniprot.org/diseases/1143 | http://purl.uniprot.org/core/mnemonic | "WMS1"xsd:string |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2004/02/skos/core#altLabel | "Autosomal recessive Weill-Marchesani syndrome"xsd:string |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital mesodermal dysmorphodystrophy"xsd:string |
http://purl.uniprot.org/diseases/1143 | http://www.w3.org/2004/02/skos/core#altLabel | "Spherophakia-brachymorphia syndrome"xsd:string |
http://purl.uniprot.org/uniprot/Q9H324#SIPF3970B7A4178E1CC | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1143 |
http://purl.uniprot.org/annotation/VAR_054439 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1143 |
http://purl.uniprot.org/uniprot/#_E0620B9472D5EBFA_up.disease_48E92735CC4A4E32 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1143 |