About: Corneal-cerebellar syndrome

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

Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally recessive disease that was first described in 1985. Three cases are known: all are sisters in the same family.

Property	Value
dbo:abstract	Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally recessive disease that was first described in 1985. Three cases are known: all are sisters in the same family. (en)
dbo:omim	271310 (xsd:integer)
dbo:orpha	3177
dbo:synonym	Der Kaloustian-Jarudi-Khoury syndrome, corneal dystrophy with spinocebellar degeneration and spinocerebellar degeneration-corneal dystrophy syndrome
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dbo:wikiPageWikiLink	dbr:Pannus dbr:Bedouin dbr:Infancy dbr:Corneal_transplantation dbr:Rare_disease dbr:Corneal_dystrophy dbc:Autosomal_recessive_disorders dbc:Syndromes_affecting_the_cerebellum dbc:Rare_syndromes dbr:Dominance_(genetics) dbc:Syndromes_affecting_the_cornea dbr:Inbred dbr:Mental_retardation dbr:Spastic_ataxia-corneal_dystrophy_syndrome dbr:Epithelian dbr:Descemet_membrane dbr:Spinocerebellar_degeneration dbr:Stromal
dbp:caption	Corneal-cerebellar syndrome is inherited in an autosomal recessive manner (en)
dbp:mesh	535472.0 (dbd:nicaraguanCórdoba)
dbp:name	Corneal-cerebellar syndrome (en)
dbp:omim	271310 (xsd:integer)
dbp:orphanet	3177 (xsd:integer)
dbp:synonym	Der Kaloustian-Jarudi-Khoury syndrome, corneal dystrophy with spinocebellar degeneration and spinocerebellar degeneration-corneal dystrophy syndrome (en)
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rdfs:comment	Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally recessive disease that was first described in 1985. Three cases are known: all are sisters in the same family. (en)
rdfs:label	Corneal-cerebellar syndrome (en)
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foaf:name	Corneal-cerebellar syndrome (en)
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