http://purl.uniprot.org/diseases/6555 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. IHL is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering."xsd:string |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/146600 |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007057 |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0432311 |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ichthyosis histrix, Lambert type"xsd:string |
http://purl.uniprot.org/diseases/6555 | http://purl.uniprot.org/core/mnemonic | "IHL"xsd:string |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosis hystrix gravior"xsd:string |
http://purl.uniprot.org/diseases/6555 | http://www.w3.org/2004/02/skos/core#altLabel | "Porcupine man"xsd:string |
http://purl.uniprot.org/uniprot/P13645#SIP23FB86D9E8F7CF71 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6555 |
http://purl.uniprot.org/annotation/VAR_087806 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6555 |
http://purl.uniprot.org/uniprot/#_B560CA961F7737DB_up.disease_556147B5A4AF6913 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6555 |