About: CHIME syndrome

Property	Value
dbo:description	glikozilfosfatidilinositol sentezi bozukluğuna bağlı kalıtsal bir sendrom (tr) redek sindrom ektodermalne displazije, za katerega so značilni očesni kolobomi, okvare srca, ihtioziformna dermatoza, intelektualna oviranost, prevodna izguba sluha in epilepsija (sl) CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy (en) اضطراب جلدي نادر (ar)
dbo:diseasesDB	32624
dbo:gradName	CHIME syndrome
dbo:gradNum	310
dbo:medicalCause	dbr:Congenital
dbo:meshId	C536729
dbo:omim	280000 (xsd:integer)
dbo:orpha	ORPHA3474
dbo:thumbnail	wiki-commons:Special:FilePath/autorecessive.svg?width=300
dbo:wikiPageWikiLink	dbc:Autosomal_recessive_disorders dbr:Inheritance dbr:Epilepsy dbr:Intellectual_disability dbr:Autosome dbr:Acronym dbr:Congenital dbr:Syndrome dbc:Genodermatoses dbc:Rare_diseases dbc:Syndromes_affecting_the_eye dbc:Syndromes_with_intellectual_disability dbc:Genetic_disorders_with_OMIM_but_no_gene dbr:Skin_lesions dbc:Syndromes_affecting_the_heart dbr:List_of_cutaneous_conditions dbr:Heart_defect dbr:Autosomal_recessive dbr:Colobomas dbr:Ichthyosiform_dermatosis dbr:Congenital_ichthyosis dbr:Secondary_infection dbr:Ear_defects
dbp:caption	CHIME syndrome has an autosomal recessive pattern of inheritance. (en)
dbp:causes	Congenital (en)
dbp:diseasesdb	32624 (xsd:integer)
dbp:gardname	CHIME syndrome (en)
dbp:gardnum	310 (xsd:integer)
dbp:meshid	536729.0 (dbd:nicaraguanCórdoba)
dbp:name	CHIME syndrome (en)
dbp:omim	280000 (xsd:integer)
dbp:orphanet	ORPHA3474 (en)
dbp:snomedCt	720639008 (xsd:integer)
dbp:synonyms	Zunich neuroectodermal syndrome, Zunich–Kaye syndrome (en)
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
dct:subject	dbc:Autosomal_recessive_disorders dbc:Genodermatoses dbc:Rare_diseases dbc:Syndromes_affecting_the_eye dbc:Syndromes_with_intellectual_disability dbc:Genetic_disorders_with_OMIM_but_no_gene dbc:Syndromes_affecting_the_heart
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease dbo:Disease dbo:Disease
rdfs:label	CHIME syndrome (en) Σύνδρομο Ζούνιχ-Καγιέ (el) CHIME-Syndrom (de)
owl:sameAs	wikidata:CHIME syndrome dbpedia-de:CHIME syndrome dbpedia-tr:CHIME syndrome dbpedia-ro:CHIME syndrome dbpedia-el:CHIME syndrome dbpedia-global:CHIME syndrome
prov:wasDerivedFrom	wikipedia-en:CHIME_syndrome?oldid=1277638132&ns=0
foaf:depiction	wiki-commons:Special:FilePath/autorecessive.svg
foaf:isPrimaryTopicOf	wikipedia-en:CHIME_syndrome
foaf:name	CHIME syndrome (en)
is dbo:wikiPageRedirects of	dbr:Zunich–Kaye_syndrome dbr:Colobomas_of_the_eye-heart_defects-ich...ntal_retardation-ear_defects_syndrome dbr:Colobomas_of_the_eye_-_heart_defects_-...al_retardation_-_ear_defects_syndrome dbr:Colobomas_of_the_eye_–_heart_defects_–...al_retardation_–_ear_defects_syndrome dbr:Colobomas_of_the_eye–heart_defects–ich...ntal_retardation–ear_defects_syndrome dbr:Zunich-Kaye_syndrome dbr:Zunich_Kaye_syndrome dbr:Zunich_neuroectodermal_syndrome
is dbo:wikiPageWikiLink of	dbr:Zunich–Kaye_syndrome dbr:Colobomas_of_the_eye-heart_defects-ich...ntal_retardation-ear_defects_syndrome dbr:Colobomas_of_the_eye_-_heart_defects_-...al_retardation_-_ear_defects_syndrome dbr:Colobomas_of_the_eye_–_heart_defects_–...al_retardation_–_ear_defects_syndrome dbr:Colobomas_of_the_eye–heart_defects–ich...ntal_retardation–ear_defects_syndrome dbr:Zunich-Kaye_syndrome dbr:Zunich_Kaye_syndrome dbr:Zunich_neuroectodermal_syndrome
is foaf:primaryTopic of	wikipedia-en:CHIME_syndrome