http://purl.uniprot.org/diseases/590 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2000/01/rdf-schema#comment | "A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization."xsd:string |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/607626 |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007057 |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1843355 |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ichthyosis-sclerosing cholangitis neonatal syndrome"xsd:string |
http://purl.uniprot.org/diseases/590 | http://purl.uniprot.org/core/mnemonic | "NISCH"xsd:string |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2004/02/skos/core#altLabel | "ILVASC"xsd:string |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2004/02/skos/core#altLabel | "NISCH syndrome"xsd:string |
http://purl.uniprot.org/diseases/590 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis"xsd:string |
http://purl.uniprot.org/uniprot/O95832#SIP012364209B5D24E5 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/590 |
http://purl.uniprot.org/uniprot/#_2F94AB5D356F482B_up.disease_08507AD0A1AFF1F2 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/590 |