About: IVIC syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss

Property	Value
dbo:alias	Instituto Venezolano de Investigaciónes Científicas syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome, OORS. (en)
dbo:description	sehr seltene angeborene Erkrankung (de) IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss (en)
dbo:wikiPageWikiLink	dbr:Biology dbr:Italy dbr:Venezuela dbr:Zoology dbr:Genetic_disorder dbr:Medical_genetics dbr:Canary_Islands dbr:Radiography dbr:Brachydactyly_type_D dbr:Genetic_testing dbr:Geneticist dbr:Chromosome_20 dbr:Radial_dysplasia dbr:Venezuelan_Institute_for_Scientific_Research dbr:Human_genetics dbr:Thrombocytopenia dbr:Sergio_Arias_Cazorla dbr:Congenital_hearing_loss dbr:Leukocytosis dbc:Autosomal_dominant_disorders dbc:Rare_genetic_syndromes dbr:SALL4 dbr:Ophthalmoplegia dbr:Genetic_mutation
dbp:causes	dbr:Mutation
dbp:diagnosis	Physical evaluation, radiographies, and genetic testing (en)
dbp:duration	Life-long (en)
dbp:frequency	Very rare, only 3 families with the disorder have been described in medical literature (en)
dbp:name	IVIC syndrome (en)
dbp:onset	Birth (en)
dbp:prevention	none (en)
dbp:prognosis	Good (en)
dbp:risks	Having a parent with the condition (en)
dbp:specialty	dbr:Medical_genetics
dbp:symptoms	Radial ray defects, motor disturbances, and bilateral congenital hearing loss (en)
dbp:synonyms	Instituto Venezolano de Investigaciónes Científicas syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome, OORS. (en)
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition dbt:Reflist
dct:subject	dbc:Autosomal_dominant_disorders dbc:Rare_genetic_syndromes
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease dbo:Disease dbo:Disease
rdfs:label	IVIC syndrome (en) IVIC-Syndrom (de)
owl:sameAs	wikidata:IVIC syndrome dbpedia-de:IVIC syndrome dbpedia-global:IVIC syndrome
prov:wasDerivedFrom	wikipedia-en:IVIC_syndrome?oldid=1301084436&ns=0
foaf:isPrimaryTopicOf	wikipedia-en:IVIC_syndrome
is dbo:knownFor of	dbr:Sergio_Arias_Cazorla
is dbo:wikiPageRedirects of	dbr:Instituto_Venezolano_de_Investigaciónes_Científicas_syndrome
is dbo:wikiPageWikiLink of	dbr:Sergio_Arias_Cazorla dbr:List_of_OMIM_disorder_codes dbr:Instituto_Venezolano_de_Investigaciónes_Científicas_syndrome
is foaf:primaryTopic of	wikipedia-en:IVIC_syndrome