| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs."xsd:string |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617574 |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017490 |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN321864 |
| http://purl.uniprot.org/diseases/5041 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ichthyosis, congenital, autosomal recessive 13"xsd:string |
| http://purl.uniprot.org/diseases/5041 | http://purl.uniprot.org/core/mnemonic | "ARCI13"xsd:string |
| http://purl.uniprot.org/uniprot/Q8NEX9#SIPBE1CE1E1E51FA666 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5041 |
| http://purl.uniprot.org/annotation/VAR_079292 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5041 |
| http://purl.uniprot.org/annotation/VAR_079293 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5041 |
| http://purl.uniprot.org/uniprot/#_EBE264EF5FFF9595_up.disease_C5781731501D77E9 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5041 |