http://purl.uniprot.org/diseases/584 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#comment | "A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma."xsd:string |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/242500 |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017490 |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0239849 |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0598226 |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ichthyosis, congenital, autosomal recessive 4B"xsd:string |
http://purl.uniprot.org/diseases/584 | http://purl.uniprot.org/core/mnemonic | "ARCI4B"xsd:string |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2004/02/skos/core#altLabel | "HI"xsd:string |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2004/02/skos/core#altLabel | "Harlequin ichthyosis"xsd:string |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2004/02/skos/core#altLabel | "Harlequin fetus"xsd:string |
http://purl.uniprot.org/diseases/584 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosis congenita harlequin fetus type"xsd:string |
http://purl.uniprot.org/uniprot/Q86UK0#SIPF3E270E884B969E0 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/annotation/VAR_067076 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/annotation/VAR_067078 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/annotation/VAR_084428 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/annotation/VAR_084429 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/annotation/VAR_084430 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/584 |
http://purl.uniprot.org/uniprot/#_49A939C751A01756_up.disease_FCCC4641AF01F44F | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/584 |