About: SHORT syndrome

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SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	SHORT-Syndrom (de) Syndrome SHORT (fr) SHORT syndrome (en)
rdfs:comment	Le syndrome SHORT est un ensemble d'anomalies congénitales touchant le squelette et les tissus mous. Il a été décrit en 1975. (fr) SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975. (en) Das SHORT-Syndrom, Akronym für Short stature (Minderwuchs), Hyperextensible Gelenke oder LeistenHernie (oder beides), tiefliegende Augen (Ocular depression), Rieger-Anomalie und verspätetes Teething (Zahndurchbruch), ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen. Synonyme sind: Aarskog-Ose-Pande-Syndrom; Lipodystrophie - Rieger-Anomalie – Diabetes; Rieger-Anomalie-partielle Lipodystrophy-Syndrom Das Syndrom ist nicht mit dem Short-QT-Syndrom zu verwechseln. (de)
foaf:name	SHORT syndrome (en)
name	SHORT syndrome (en)
foaf:depiction
dcterms:subject	Congenital disorders Syndromes
Wikipage page ID	3062826 (xsd:integer)
Wikipage revision ID	1037003320 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Organ system Lipodystrophy Joint Acronym Cell growth Cell proliferation Congenital disorders Syndromes Congenital abnormality Inguinal hernia Short stature dbr:Hyperextensibility dbr:Rieger_anomaly
sameAs	SHORT syndrome SHORT syndrome SHORT syndrome SHORT syndrome SHORT syndrome SHORT syndrome SHORT syndrome
UMLS	878684.0 (nicaraguanCórdoba)
dbp:wikiPageUsesTemplate	dbt:Congenital-malformation-stub dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refimprove dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
DiseasesDB	30068 (xsd:integer)
ICD	Q87.1 (en)
MeshID	537327.0 (nicaraguanCórdoba)
OMIM	269880 (xsd:integer)
Orphanet	3163 (xsd:integer)
auto	yes (en)
caption	SHORT syndrome is inherited in a autosomal dominant manner (en)
causes	PIK3R1 mutation. (en)
date	December 2009 (en)
field	Multidisciplinary (en)
frequency	Rare, less than 50 cases have been reported. (en)
synonyms	-Aarskog-Ose-Pande syndrome -lipodystrophy-Rieger anomaly-diabetes syndrome -Rieger anomaly-partial lipodystrophy syndrome -PIK3R1-associated syndromic insulin resistance with lipoatrophy (en)
has abstract	Das SHORT-Syndrom, Akronym für Short stature (Minderwuchs), Hyperextensible Gelenke oder LeistenHernie (oder beides), tiefliegende Augen (Ocular depression), Rieger-Anomalie und verspätetes Teething (Zahndurchbruch), ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen. Synonyme sind: Aarskog-Ose-Pande-Syndrom; Lipodystrophie - Rieger-Anomalie – Diabetes; Rieger-Anomalie-partielle Lipodystrophy-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1975 durch den US-amerikanischen Humangenetiker Robert J. Gorlin und Mitarbeiter und im gleichen Jahr durch den US-amerikanischen Pädiater J. A. Sensenbrenner und Mitarbeiter. Das Syndrom ist nicht mit dem Short-QT-Syndrom zu verwechseln. (de) Le syndrome SHORT est un ensemble d'anomalies congénitales touchant le squelette et les tissus mous. Il a été décrit en 1975. (fr) SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975. (en)
GARD	7633 (xsd:integer)
gold:hypernym	Condition
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
MeSH ID	C537327
prov:wasDerivedFrom	wikipedia-en:SHORT_syndrome?oldid=1037003320&ns=0
page length (characters) of wiki page	3319 (xsd:nonNegativeInteger)
DiseasesDB	30068
ICD10	Q87.1
OMIM id	269880 (xsd:integer)
ORPHA	3163
foaf:isPrimaryTopicOf	wikipedia-en:SHORT_syndrome
is Link from a Wikipage to another Wikipage of	PIK3R1 Aarskog-Ose-Pande syndrome Short List of syndromes Short syndrome

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