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Statements

Subject Item
dbr:Rud_syndrome
rdf:type
yago:IllHealth114052046 yago:State100024720 yago:Disease114070360 yago:PhysicalCondition114034177 dbo:Disease yago:Attribute100024264 yago:WikicatGeneticDisordersWithOMIMButNoGene yago:PathologicalState114051917 wikidata:Q12136 yago:Condition113920835 yago:Illness114061805 owl:Thing yago:Abstraction100002137 yago:GeneticDisease114151139
rdfs:label
Rud syndrome
rdfs:comment
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome. Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome does not exist.
foaf:name
Rud syndrome
dbp:name
Rud syndrome
foaf:depiction
n16:X-linked_recessive_(2).svg
dct:subject
dbc:Syndromes_affecting_the_skin dbc:Syndromes_affecting_the_eye dbc:Rare_diseases dbc:Syndromes_with_intellectual_disability dbc:Genetic_disorders_with_OMIM_but_no_gene dbc:Syndromes_affecting_the_endocrine_system dbc:Syndromes_with_seizures dbc:Syndromes_with_short_stature
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dbo:wikiPageRevisionID
1086563127
dbo:wikiPageWikiLink
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yago-res:Rud_syndrome wikidata:Q7376681 freebase:m.051_9k6 n18:4v2vF
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dbo:thumbnail
n16:X-linked_recessive_(2).svg?width=300
dbp:diseasesdb
29322
dbp:meshid
535878.0
dbp:omim
308200
dbp:orphanet
431
dbp:symptoms
RUDS
dbp:caption
X-linked recessive inheritence
dbo:abstract
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome. Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome does not exist.
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dbo:orpha
431
foaf:isPrimaryTopicOf
wikipedia-en:Rud_syndrome