"CHIME syndrome, also known as Zunich\u2013Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either or epilepsy. It is a congenital syndrome with only a few cases studied and published."@en . . "\u03A4\u03BF \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u0396\u03BF\u03CD\u03BD\u03B9\u03C7-\u039A\u03B1\u03B3\u03B9\u03AD, \u03B5\u03C0\u03AF\u03C3\u03B7\u03C2 \u03B3\u03BD\u03C9\u03C3\u03C4\u03CC \u03C9\u03C2 \u03BD\u03B5\u03C5\u03C1\u03BF\u03B5\u03BA\u03C4\u03BF\u03B4\u03B5\u03C1\u03BC\u03B9\u03BA\u03CC \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u0396\u03BF\u03CD\u03BD\u03B9\u03C7, \u03B5\u03AF\u03BD\u03B1\u03B9 \u03BC\u03B9\u03B1 \u03C3\u03C0\u03AC\u03BD\u03B9\u03B1 \u03C3\u03C5\u03B3\u03B3\u03B5\u03BD\u03AE\u03C2 \u03B9\u03C7\u03B8\u03CD\u03B1\u03C3\u03B7 \u03C0\u03BF\u03C5 \u03C0\u03B5\u03C1\u03B9\u03B3\u03C1\u03AC\u03C6\u03B7\u03BA\u03B5 \u03B3\u03B9\u03B1 \u03C0\u03C1\u03CE\u03C4\u03B7 \u03C6\u03BF\u03C1\u03AC \u03C4\u03BF 1983. \u03A4\u03B1 \u03BA\u03CD\u03C1\u03B9\u03B1 \u03C3\u03C5\u03BC\u03C0\u03C4\u03CE\u03BC\u03B1\u03C4\u03AC \u03C4\u03BF\u03C5 \u03B5\u03AF\u03BD\u03B1\u03B9 , , , \u03BA\u03B1\u03B9 \u03B5\u03C0\u03B9\u03BB\u03B7\u03C8\u03AF\u03B1. \u0395\u03AF\u03BD\u03B1\u03B9 \u03AD\u03BD\u03B1 \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF, \u03BC\u03B5 \u03BB\u03AF\u03B3\u03B5\u03C2 \u03BC\u03CC\u03BD\u03BF \u03C0\u03B5\u03C1\u03B9\u03C0\u03C4\u03CE\u03C3\u03B5\u03B9\u03C2 \u03BD\u03B1 \u03AD\u03C7\u03BF\u03C5\u03BD \u03BC\u03B5\u03BB\u03B5\u03C4\u03B7\u03B8\u03B5\u03AF \u03BA\u03B1\u03B9 \u03B4\u03B7\u03BC\u03BF\u03C3\u03B9\u03B5\u03C5\u03B8\u03B5\u03AF."@el . . . . "C536729" . . "ORPHA3474"@en . "4719"^^ . . . . "280000"^^ . . . . "32624" . "CHIME-Syndrom"@de . . "1105741308"^^ . "CHIME syndrome"@en . . . . . . . . . "Zunich neuroectodermal syndrome, Zunich\u2013Kaye syndrome"@en . "536729.0"^^ . . "CHIME syndrome" . "CHIME syndrome"@en . . . "\u03A3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u0396\u03BF\u03CD\u03BD\u03B9\u03C7-\u039A\u03B1\u03B3\u03B9\u03AD"@el . "Das CHIME-Syndrom, Akronym f\u00FCr Colobom, Herzfehler, Ichthyosis-artige Dermatitis, Mentale Retardierung und Epilepsie, ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen einer wandernden Dermatose, beidseitigem Kolobom, Schallleitungsschwerh\u00F6rigkeit, Krampfanfall, geistige Retardierung und Gesichtsauff\u00E4lligkeiten. Synonyme sind: Neuroektodermales Syndrom; Dysplasie, neuroektodermale, Typ CHIME; Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGL-Mangel; Kolobom-kongenitale Herzkrankheit-ichthyosiforme Dermatose-Intelligenzminderung-Ohrenanomalien; Neuroektodermales Syndrom Typ Zunich; PIGL-CDG; Zunich-Kaye-Syndrom; englisch Zunich neuroectodermal syndrome Die Bezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1983 durch die US-amerikanischen \u00C4rztinnen Janice Zunich und Celia I. Kaye."@de . "CHIME syndrome, also known as Zunich\u2013Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either or epilepsy. It is a congenital syndrome with only a few cases studied and published."@en . "Das CHIME-Syndrom, Akronym f\u00FCr Colobom, Herzfehler, Ichthyosis-artige Dermatitis, Mentale Retardierung und Epilepsie, ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen einer wandernden Dermatose, beidseitigem Kolobom, Schallleitungsschwerh\u00F6rigkeit, Krampfanfall, geistige Retardierung und Gesichtsauff\u00E4lligkeiten. Die Bezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1983 durch die US-amerikanischen \u00C4rztinnen Janice Zunich und Celia I. Kaye."@de . . "\u03A4\u03BF \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u0396\u03BF\u03CD\u03BD\u03B9\u03C7-\u039A\u03B1\u03B3\u03B9\u03AD, \u03B5\u03C0\u03AF\u03C3\u03B7\u03C2 \u03B3\u03BD\u03C9\u03C3\u03C4\u03CC \u03C9\u03C2 \u03BD\u03B5\u03C5\u03C1\u03BF\u03B5\u03BA\u03C4\u03BF\u03B4\u03B5\u03C1\u03BC\u03B9\u03BA\u03CC \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u0396\u03BF\u03CD\u03BD\u03B9\u03C7, \u03B5\u03AF\u03BD\u03B1\u03B9 \u03BC\u03B9\u03B1 \u03C3\u03C0\u03AC\u03BD\u03B9\u03B1 \u03C3\u03C5\u03B3\u03B3\u03B5\u03BD\u03AE\u03C2 \u03B9\u03C7\u03B8\u03CD\u03B1\u03C3\u03B7 \u03C0\u03BF\u03C5 \u03C0\u03B5\u03C1\u03B9\u03B3\u03C1\u03AC\u03C6\u03B7\u03BA\u03B5 \u03B3\u03B9\u03B1 \u03C0\u03C1\u03CE\u03C4\u03B7 \u03C6\u03BF\u03C1\u03AC \u03C4\u03BF 1983. \u03A4\u03B1 \u03BA\u03CD\u03C1\u03B9\u03B1 \u03C3\u03C5\u03BC\u03C0\u03C4\u03CE\u03BC\u03B1\u03C4\u03AC \u03C4\u03BF\u03C5 \u03B5\u03AF\u03BD\u03B1\u03B9 , , , \u03BA\u03B1\u03B9 \u03B5\u03C0\u03B9\u03BB\u03B7\u03C8\u03AF\u03B1. \u0395\u03AF\u03BD\u03B1\u03B9 \u03AD\u03BD\u03B1 \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF, \u03BC\u03B5 \u03BB\u03AF\u03B3\u03B5\u03C2 \u03BC\u03CC\u03BD\u03BF \u03C0\u03B5\u03C1\u03B9\u03C0\u03C4\u03CE\u03C3\u03B5\u03B9\u03C2 \u03BD\u03B1 \u03AD\u03C7\u03BF\u03C5\u03BD \u03BC\u03B5\u03BB\u03B5\u03C4\u03B7\u03B8\u03B5\u03AF \u03BA\u03B1\u03B9 \u03B4\u03B7\u03BC\u03BF\u03C3\u03B9\u03B5\u03C5\u03B8\u03B5\u03AF."@el . . . . . . "CHIME syndrome has an autosomal recessive pattern of inheritance."@en . . . "310" . . . . . . . . . . . "310"^^ . "CHIME syndrome"@en . . . . "CHIME syndrome"@en . . . . . . . . "ORPHA3474" . "720639008"^^ . . . . "280000"^^ . "10824283"^^ . . "32624"^^ . . . . . . . . . . . .