About: Jalili syndrome

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Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred Arab family living within the Gaza Strip.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Jalili-Syndrom (de) Jalili syndrome (en)
rdfs:comment	Das Jalili Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Zapfen-Stäbchen-Dystrophie (einer Augenerkrankung mit Absterben der Zapfen in der Netzhautmitte) mit Amelogenesis imperfecta (einer angeborenen Zahnschmelzhypoplasie). Synonym: Zapfen-Stäbchen-Dystrophie - Amelogenesis imperfecta Die Bezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1988 durch die Augenärzte I. K. Jalili und N. J. Smith. Das Syndrom ist nicht mit dem auch als „Jalili-Syndrom“ bezeichneten Amaurose-Hypertrichose-Syndrom zu verwechseln. (de) Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred Arab family living within the Gaza Strip. (en)
foaf:name	Jalili syndrome (en)
name	Jalili syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the retina Autosomal recessive disorders Rare syndromes
Wikipage page ID	34023385 (xsd:integer)
Wikipage revision ID	1099192542 (xsd:integer)
Link from a Wikipage to another Wikipage	Amelogenesis imperfecta Inbreeding Nystagmus Genetic disorder Syndromes affecting the retina Gaza Strip Gene Cone dystrophy Autosomal recessive disorders Choroid Compound heterozygosity Dentin Achromatopsia Anetoderma Retinal pigment epithelium Rare syndromes Hypoplasia Lebanese people Palestinian people Kosovo Photophobia dbr:CNNM4
Link from a Wikipage to an external page	http://www.nature.com/eye/journal/v24/n11/full/eye2010103a.html http://omim.org/entry/217080
sameAs	Jalili syndrome Jalili syndrome Jalili syndrome Jalili syndrome Jalili syndrome
dbp:wikiPageUsesTemplate	dbt:Cite_journal dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
ICD	H35.5 (en)
OMIM	217080 (xsd:integer)
Orphanet	1873 (xsd:integer)
symptoms	This (en)
caption	Jalili syndrome is inherited via an autosomal recessive manner (en)
date	July 2017 (en)
synonyms	Cone rod dystrophy-amelogenesis imperfecta syndrome (en)
has abstract	Das Jalili Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Zapfen-Stäbchen-Dystrophie (einer Augenerkrankung mit Absterben der Zapfen in der Netzhautmitte) mit Amelogenesis imperfecta (einer angeborenen Zahnschmelzhypoplasie). Synonym: Zapfen-Stäbchen-Dystrophie - Amelogenesis imperfecta Die Bezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1988 durch die Augenärzte I. K. Jalili und N. J. Smith. Das Syndrom ist nicht mit dem auch als „Jalili-Syndrom“ bezeichneten Amaurose-Hypertrichose-Syndrom zu verwechseln. (de) Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred Arab family living within the Gaza Strip. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:Jalili_syndrome?oldid=1099192542&ns=0
page length (characters) of wiki page	9227 (xsd:nonNegativeInteger)
ICD10	H35.5
OMIM id	217080 (xsd:integer)
ORPHA	1873
foaf:isPrimaryTopicOf	wikipedia-en:Jalili_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (J) List of eponymous diseases Jalili dynasty Enamel-renal syndrome Mosul List of OMIM disorder codes List of syndromes
is foaf:primaryTopic of	wikipedia-en:Jalili_syndrome

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