About: Rud syndrome

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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.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720
rdfs:label	Rud syndrome (en)
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. (en)
foaf:name	Rud syndrome (en)
name	Rud syndrome (en)
foaf:depiction
dcterms:subject	Syndromes with short stature Rare diseases Syndromes affecting the eye Syndromes with intellectual disability Syndromes with seizures Genetic disorders with OMIM but no gene Syndromes affecting the skin Syndromes affecting the endocrine system
Wikipage page ID	20672996 (xsd:integer)
Wikipage revision ID	1086563127 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataract Epilepsy Blepharospasm Denmark Nystagmus Syndromes with short stature Strabismus Glaucoma Refsum disease Rare diseases Syndromes affecting the eye Syndromes with intellectual disability Syndromes with seizures Hypogonadism Genetic disorders with OMIM but no gene Syndromes affecting the skin Syndromes affecting the endocrine system X-linked recessive inheritance Sjögren-Larsson syndrome Mental retardation Retinitis pigmentosa Blepharoptosis Congenital ichthyosis dbr:Einar_Rud
sameAs	Rud syndrome Rud syndrome Rud syndrome Rud syndrome
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Rp
thumbnail	wiki-commons:Special:FilePath/X-linked_recessive_(2).svg?width=300
DiseasesDB	29322 (xsd:integer)
MeshID	535878.0 (nicaraguanCórdoba)
OMIM	308200 (xsd:integer)
Orphanet	431 (xsd:integer)
symptoms	RUDS (en)
caption	X-linked recessive inheritence (en)
has 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. (en)
MeSH ID	C535878
prov:wasDerivedFrom	wikipedia-en:Rud_syndrome?oldid=1086563127&ns=0
page length (characters) of wiki page	4584 (xsd:nonNegativeInteger)
DiseasesDB	29322
OMIM id	308200 (xsd:integer)
ORPHA	431
foaf:isPrimaryTopicOf	wikipedia-en:Rud_syndrome
is Link from a Wikipage to another Wikipage of	Say syndrome List of skin conditions List of syndromes Rud's syndrome
is Wikipage redirect of	Rud's syndrome
is foaf:primaryTopic of	wikipedia-en:Rud_syndrome

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