About: Papillorenal syndrome

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

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

Property	Value
dbo:abstract	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)
dbo:diseasesDB	32086
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dbo:thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
dbo:wikiPageExternalLink	https://www.ncbi.nlm.nih.gov/books/NBK1451/ https://www.ncbi.nlm.nih.gov/gtr/all/tests/%3Fterm=papillorenal+syndrome/
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dbo:wikiPageWikiLink	dbr:Morning_glory_disc_anomaly dbr:Hydrogen_bond dbr:Pax_genes dbr:Retina dbc:Rare_genetic_syndromes dbr:Genetic_disorder dbr:Optic_cup_(embryology) dbr:Nephron dbr:Zygosity dbr:End-stage_renal_disease dbc:Kidney_diseases dbc:Syndromes_affecting_the_optic_nerve dbr:Coloboma dbr:Zebrafish dbr:Preimplantation_genetic_diagnosis dbc:Syndromes_affecting_the_kidneys dbr:Chromosome dbr:Chronic_kidney_disease dbr:Hypertrophy dbc:Autosomal_dominant_disorders dbc:Transcription_factor_deficiencies dbr:Kidney dbc:Congenital_disorders_of_urinary_system dbr:Heredity dbr:Dominance_(genetics) dbr:Autosome dbr:Mice dbr:Optic_nerve dbr:Chromosome_10_(human) dbr:Sonic_hedgehog dbr:Renal_hypoplasia
dbp:caption	Papillorenal syndrome has an autosomal dominant pattern of inheritance (en)
dbp:diseasesdb	32086 (xsd:integer)
dbp:name	Papillorenal syndrome (en)
dbp:omim	120330 (xsd:integer)
dbp:synonyms	so called renal-coloboma syndrome or isolated renal hypoplasia, (en)
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dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
dcterms:subject	dbc:Rare_genetic_syndromes dbc:Kidney_diseases dbc:Syndromes_affecting_the_optic_nerve dbc:Syndromes_affecting_the_kidneys dbc:Autosomal_dominant_disorders dbc:Transcription_factor_deficiencies dbc:Congenital_disorders_of_urinary_system
gold:hypernym	dbr:Disorder
rdf:type	owl:Thing wikidata:Q12136 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 dbo:Disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
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)
rdfs:label	Renales Kolobom-Syndrom (de) Papillorenal syndrome (en)
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foaf:name	Papillorenal syndrome (en)
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