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http://purl.uniprot.org/diseases/5039http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#comment"A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive."xsd:string
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/617565
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D006319
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D023961
http://purl.uniprot.org/diseases/5039http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN314202
http://purl.uniprot.org/diseases/5039http://www.w3.org/2004/02/skos/core#prefLabel"Perrault syndrome 6"xsd:string
http://purl.uniprot.org/diseases/5039http://purl.uniprot.org/core/mnemonic"PRLTS6"xsd:string
http://purl.uniprot.org/uniprot/O75616#SIP3945AEC703299EADhttp://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/5039
http://purl.uniprot.org/annotation/VAR_079209http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5039
http://purl.uniprot.org/uniprot/#_ADA6B1DEA2B9DAA4_up.disease_5E4230B8730220B6http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/5039