http://purl.uniprot.org/diseases/1108 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#comment | "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability."xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1007 |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/276600 |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D020176 |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268487 |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#prefLabel | "Tyrosinemia 2"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://purl.uniprot.org/core/mnemonic | "TYRSN2"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Keratosis palmoplantaris with corneal dystrophy"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Oculocutaneous tyrosinemia"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Richner-Hanhart syndrome"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "TAT deficiency"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Tyrosine aminotransferase deficiency"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Tyrosine transaminase deficiency"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Tyrosinemia Oregon type"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Tyrosinemia type II"xsd:string |
http://purl.uniprot.org/diseases/1108 | http://www.w3.org/2004/02/skos/core#altLabel | "Tyrosinosis oculocutaneous type"xsd:string |
http://purl.uniprot.org/uniprot/P17735#SIPA353D4D16CB15794 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1108 |
http://purl.uniprot.org/annotation/VAR_000560 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1108 |
http://purl.uniprot.org/uniprot/#_808F4181854F76FB_up.disease_0287EA3A18007D4C | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1108 |