http://purl.uniprot.org/diseases/5669 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5669 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads."xsd:string |
http://purl.uniprot.org/diseases/5669 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618641 |
http://purl.uniprot.org/diseases/5669 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017093 |
http://purl.uniprot.org/diseases/5669 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN262533 |
http://purl.uniprot.org/diseases/5669 | http://www.w3.org/2004/02/skos/core#prefLabel | "Infantile liver failure syndrome 3"xsd:string |
http://purl.uniprot.org/diseases/5669 | http://purl.uniprot.org/core/mnemonic | "ILFS3"xsd:string |
http://purl.uniprot.org/uniprot/Q6NUQ1#SIP842AE3B0497CDA5F | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5669 |
http://purl.uniprot.org/annotation/VAR_083238 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5669 |
http://purl.uniprot.org/annotation/VAR_083239 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5669 |
http://purl.uniprot.org/annotation/VAR_083240 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5669 |
http://purl.uniprot.org/uniprot/#_AA8104B9E8065260_up.disease_1832A1C02D583875 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5669 |