About: CHIME syndrome

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CHIME syndrome, also known as Zunich–Kaye 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.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	CHIME syndrome (en) CHIME-Syndrom (de) Σύνδρομο Ζούνιχ-Καγιέ (el)
rdfs:comment	Το σύνδρομο Ζούνιχ-Καγιέ, επίσης γνωστό ως νευροεκτοδερμικό σύνδρομο Ζούνιχ, είναι μια σπάνια συγγενής ιχθύαση που περιγράφηκε για πρώτη φορά το 1983. Τα κύρια συμπτώματά του είναι , , , και επιληψία. Είναι ένα σύνδρομο, με λίγες μόνο περιπτώσεις να έχουν μελετηθεί και δημοσιευθεί. (el) CHIME syndrome, also known as Zunich–Kaye 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 für Colobom, Herzfehler, Ichthyosis-artige Dermatitis, Mentale Retardierung und Epilepsie, ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen einer wandernden Dermatose, beidseitigem Kolobom, Schallleitungsschwerhörigkeit, Krampfanfall, geistige Retardierung und Gesichtsauffälligkeiten. Die Bezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1983 durch die US-amerikanischen Ärztinnen Janice Zunich und Celia I. Kaye. (de)
foaf:name	CHIME syndrome (en)
name	CHIME syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the heart Autosomal recessive disorders Genodermatoses Rare diseases Syndromes affecting the eye Syndromes with intellectual disability Genetic disorders with OMIM but no gene
Wikipage page ID	10824283 (xsd:integer)
Wikipage revision ID	1105741308 (xsd:integer)
Link from a Wikipage to another Wikipage	Epilepsy Inheritance Syndromes affecting the heart Autosomal recessive disorders Syndrome Autosomal recessive Acronym Genodermatoses Rare diseases Syndromes affecting the eye Syndromes with intellectual disability Genetic disorders with OMIM but no gene Autosome Ichthyosiform dermatosis Intellectual disability Secondary infection Congenital List of cutaneous conditions Heart defect Skin lesions Congenital ichthyosis Colobomas dbr:Ear_defects
sameAs	CHIME syndrome CHIME syndrome CHIME syndrome CHIME syndrome CHIME syndrome CHIME syndrome
SNOMED CT	720639008 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Cite_journal dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Congenital_malformations_and_deformations_of_integument
thumbnail	wiki-commons:Special:FilePath/autorecessive.svg?width=300
DiseasesDB	32624 (xsd:integer)
MeshID	536729.0 (nicaraguanCórdoba)
OMIM	280000 (xsd:integer)
Orphanet	ORPHA3474 (en)
caption	CHIME syndrome has an autosomal recessive pattern of inheritance. (en)
synonyms	Zunich neuroectodermal syndrome, Zunich–Kaye syndrome (en)
has abstract	Το σύνδρομο Ζούνιχ-Καγιέ, επίσης γνωστό ως νευροεκτοδερμικό σύνδρομο Ζούνιχ, είναι μια σπάνια συγγενής ιχθύαση που περιγράφηκε για πρώτη φορά το 1983. Τα κύρια συμπτώματά του είναι , , , και επιληψία. Είναι ένα σύνδρομο, με λίγες μόνο περιπτώσεις να έχουν μελετηθεί και δημοσιευθεί. (el) Das CHIME-Syndrom, Akronym für Colobom, Herzfehler, Ichthyosis-artige Dermatitis, Mentale Retardierung und Epilepsie, ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen einer wandernden Dermatose, beidseitigem Kolobom, Schallleitungsschwerhörigkeit, Krampfanfall, geistige Retardierung und Gesichtsauffälligkeiten. 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 Ärztinnen Janice Zunich und Celia I. Kaye. (de) CHIME syndrome, also known as Zunich–Kaye 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)
GARDName	CHIME syndrome (en)
GARDNum	310 (xsd:integer)
MeSH ID	C536729
prov:wasDerivedFrom	wikipedia-en:CHIME_syndrome?oldid=1105741308&ns=0
page length (characters) of wiki page	4719 (xsd:nonNegativeInteger)
DiseasesDB	32624
OMIM id	280000 (xsd:integer)
ORPHA	ORPHA3474
GARDName	CHIME syndrome
GARDNum	310
foaf:isPrimaryTopicOf	wikipedia-en:CHIME_syndrome
is Link from a Wikipage to another Wikipage of	Colobomas of the eye–heart defects–ichthyosiform dermatosis–mental retardation–ear defects syndrome Zunich–Kaye syndrome Zunich-Kaye syndrome Zunich neuroectodermal syndrome Zunich Kaye syndrome Colobomas of the eye-heart defects-ichthyosiform dermatosis-mental retardation-ear defects syndrome Colobomas of the eye - heart defects - ichthyosiform dermatosis - mental retardation - ear defects syndrome Colobomas of the eye – heart defects – ichthyosiform dermatosis – mental retardation – ear defects syndrome
is Wikipage redirect of	Colobomas of the eye–heart defects–ichthyosiform dermatosis–mental retardation–ear defects syndrome Zunich–Kaye syndrome Zunich-Kaye syndrome Zunich neuroectodermal syndrome Zunich Kaye syndrome Colobomas of the eye-heart defects-ichthyosiform dermatosis-mental retardation-ear defects syndrome Colobomas of the eye - heart defects - ichthyosiform dermatosis - mental retardation - ear defects syndrome Colobomas of the eye – heart defects – ichthyosiform dermatosis – mental retardation – ear defects syndrome
is foaf:primaryTopic of	wikipedia-en:CHIME_syndrome

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