About: DOOR syndrome

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DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as , but since both disorders are extremely rare it is hard to make a determination.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	DOOR syndrome (en) DOOR-Syndrom (de)
rdfs:comment	DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as , but since both disorders are extremely rare it is hard to make a determination. (en) Das DOOR-Syndrom ist eine sehr seltene genetische Krankheit, die sehr wahrscheinlich autosomal-rezessiv vererbt wird. Die Abkürzung DOOR steht für die Hauptsymptome Deafness (Gehörlosigkeit), Osteodystrophy (Knochendystrophie/Fehlbildung der Knochen), Onychodystrophy (Nageldystrophie/Nagelhypoplasie = Entwicklungsstörung der Nägel) und mentale Retardation (geistige Behinderung/Entwicklungsverzögerung). Ein weiteres Symptom sind epileptische Anfälle. Weltweit sind weniger als 50 Fälle bekannt. Die Erstbeschreibung erfolgte 1970 durch den französischen Genetiker R. Walbaum (1929–1985), der Begriff DOOR allerdings wurde erstmals 1975 von Ronald Cantwell geprägt. (de)
foaf:name	DOOR syndrome (en)
name	DOOR syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare syndromes Syndromes with intellectual disability Genetic disorders with OMIM but no gene Syndromes with sensorineural hearing loss
Wikipage page ID	20731821 (xsd:integer)
Wikipage revision ID	1088087297 (xsd:integer)
Link from a Wikipage to another Wikipage	Phalanges Nail (anatomy) Autosomal recessive disorders Autosomal dominant Autosomal recessive Rare syndromes Syndromes with intellectual disability Genetic disorders with OMIM but no gene Syndromes with sensorineural hearing loss Heredity Seizures Mental retardation Sensorineural deafness Genetic disease dbr:Deafness-onychodystrophy_syndrome dbr:Eronen_Syndrome
sameAs	DOOR syndrome DOOR syndrome DOOR syndrome DOOR syndrome DOOR syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed 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	Q87.8 (en)
OMIM	220500 (xsd:integer)
caption	This condition is inherited in an autosomal recessive manner (en)
field	DiseasesDB = 32494 (en)
synonyms	Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome (en)
has abstract	DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as , but since both disorders are extremely rare it is hard to make a determination. (en) Das DOOR-Syndrom ist eine sehr seltene genetische Krankheit, die sehr wahrscheinlich autosomal-rezessiv vererbt wird. Die Abkürzung DOOR steht für die Hauptsymptome Deafness (Gehörlosigkeit), Osteodystrophy (Knochendystrophie/Fehlbildung der Knochen), Onychodystrophy (Nageldystrophie/Nagelhypoplasie = Entwicklungsstörung der Nägel) und mentale Retardation (geistige Behinderung/Entwicklungsverzögerung). Ein weiteres Symptom sind epileptische Anfälle. Weltweit sind weniger als 50 Fälle bekannt. Die Erstbeschreibung erfolgte 1970 durch den französischen Genetiker R. Walbaum (1929–1985), der Begriff DOOR allerdings wurde erstmals 1975 von Ronald Cantwell geprägt. (de)
gold:hypernym	Disease
prov:wasDerivedFrom	wikipedia-en:DOOR_syndrome?oldid=1088087297&ns=0
page length (characters) of wiki page	4847 (xsd:nonNegativeInteger)
ICD10	Q87.8
OMIM id	220500 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:DOOR_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (D) Door Syndrome Door syndrome List of syndromes Temple–Baraitser syndrome
is Wikipage redirect of	Door Syndrome Door syndrome
is differential diagnosis of	Temple–Baraitser syndrome
is foaf:primaryTopic of	wikipedia-en:DOOR_syndrome

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