About: Papillorenal syndrome

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About: Papillorenal syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)

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http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FPapillorenal_syndrome

Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisordersOfUrinarySystem yago:WikicatTranscriptionFactorDeficiencies yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:Lack114449405 yago:Need114449126 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Renales Kolobom-Syndrom (de) Papillorenal syndrome (en)
rdfs:comment	Ein Renales Kolobom-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Kolobome (oder Dysplasie des Sehnervens) kombiniert mit Dysplasie oder Hypoplasie der Nieren. Synonyme sind: Kolobome des Sehnervs – Nierenkrankheit; Nieren-Kolobom-Syndrom; Papillo-renales Syndrom, englisch Renal colobima syndrome; RCS Die Erstbeschreibung erfolgte wohl durch den Augenarzt Gebhard Rieder im Jahre 1977. Im Jahre 1988 veröffentlichte der US-amerikanische Augenarzt R. Grey Weaver eine detaillierte Beschreibung des Syndromes. (de) Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. (en)
foaf:name	Papillorenal syndrome (en)
name	Papillorenal syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Kidney diseases Syndromes affecting the optic nerve Syndromes affecting the kidneys Autosomal dominant disorders Transcription factor deficiencies Congenital disorders of urinary system
Wikipage page ID	7847109 (xsd:integer)
Wikipage revision ID	1084539949 (xsd:integer)
Link from a Wikipage to another Wikipage	Morning glory disc anomaly Hydrogen bond Pax genes Retina Rare genetic syndromes Genetic disorder Optic cup (embryology) Nephron Zygosity End-stage renal disease Kidney diseases Syndromes affecting the optic nerve Coloboma Zebrafish Preimplantation genetic diagnosis Syndromes affecting the kidneys Chromosome Chronic kidney disease Hypertrophy Autosomal dominant disorders Transcription factor deficiencies Kidney Congenital disorders of urinary system Heredity Dominance (genetics) Autosome Mice Optic nerve Chromosome 10 (human) Sonic hedgehog Renal hypoplasia
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK1451/ https://www.ncbi.nlm.nih.gov/gtr/all/tests/%3Fterm=papillorenal+syndrome/
sameAs	Papillorenal syndrome Papillorenal syndrome Papillorenal syndrome Papillorenal syndrome Papillorenal syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Congenital_malformations_of_urinary_system dbt:RareDiseases dbt:Transcription_factor/coregulator_deficiencies
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
DiseasesDB	32086 (xsd:integer)
OMIM	120330 (xsd:integer)
caption	Papillorenal syndrome has an autosomal dominant pattern of inheritance (en)
synonyms	so called renal-coloboma syndrome or isolated renal hypoplasia, (en)

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