About: Gillespie syndrome

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Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Gillespie-Syndrom (de) Gillespie syndrome (en)
rdfs:comment	Das Gillespie-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Aniridie, zerebelläre Ataxie und Intelligenzminderung. Synonyme sind: Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1965 durch den US-amerikanischen Augenarzt Frederick D. Gillespie. (de) Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965. (en)
foaf:name	Gillespie syndrome (en)
name	Gillespie syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare syndromes Syndromes affecting the eye Syndromes affecting the nervous system Syndromes with intellectual disability Autosomal dominant disorders
Wikipage page ID	22264695 (xsd:integer)
Wikipage revision ID	1084515650 (xsd:integer)
Link from a Wikipage to another Wikipage	Genetic disorder Genetic carrier Autosomal recessive disorders Aniridia Iris (anatomy) Chromosome 3 Rare syndromes Syndromes affecting the eye Syndromes affecting the nervous system Syndromes with intellectual disability Heterogeneity Ataxia Autosomal dominant disorders Dominance (genetics) Autosome Spinocerebellar ataxia Intellectual disability Ophthalmologist ITPR1 PAX6
Link from a Wikipage to an external page	https://medlineplus.gov/genetics/condition/gillespie-syndrome/
sameAs	Gillespie syndrome Gillespie syndrome Gillespie syndrome Gillespie syndrome Gillespie syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Multiple_image dbt:Reflist dbt:Transcription_factor/coregulator_deficiencies
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
DiseasesDB	32735 (xsd:integer)
ICD	759.890000 (xsd:double) G11.05 (en)
OMIM	206700 (xsd:integer)
Orphanet	1065 (xsd:integer)
synonyms	Aniridia-cerebellar ataxia-intellectual disability, Partial aniridia-cerebellar ataxia-oligophrenia (en)
has abstract	Das Gillespie-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Aniridie, zerebelläre Ataxie und Intelligenzminderung. Synonyme sind: Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1965 durch den US-amerikanischen Augenarzt Frederick D. Gillespie. (de) Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965. (en)
ICD9	759.89
prov:wasDerivedFrom	wikipedia-en:Gillespie_syndrome?oldid=1084515650&ns=0
page length (characters) of wiki page	9679 (xsd:nonNegativeInteger)
DiseasesDB	32735
ICD10	G11.05
OMIM id	206700 (xsd:integer)
ORPHA	1065
foaf:isPrimaryTopicOf	wikipedia-en:Gillespie_syndrome
is Link from a Wikipage to another Wikipage of	List of genetic disorders Aniridia List of OMIM disorder codes Gillespie List of syndromes PAX6
is Wikipage disambiguates of	Gillespie
is foaf:primaryTopic of	wikipedia-en:Gillespie_syndrome

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