http://purl.uniprot.org/diseases/6671 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive."xsd:string |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/620150 |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017488 |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN327122 |
http://purl.uniprot.org/diseases/6671 | http://www.w3.org/2004/02/skos/core#prefLabel | "Epidermolytic hyperkeratosis 2"xsd:string |
http://purl.uniprot.org/diseases/6671 | http://purl.uniprot.org/core/mnemonic | "EHK2"xsd:string |
http://purl.uniprot.org/uniprot/P13645#SIP9DB8028B7FD6D0A6 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003826 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003827 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003828 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003829 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003830 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003831 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003832 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_003833 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_010506 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_010507 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_010508 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_010509 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_010510 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_071985 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_088516 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |
http://purl.uniprot.org/annotation/VAR_088517 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6671 |