ONKI3 | Medical Subject Headings

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Williams Syndrome

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Behavior and Behavior Mechanisms ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Cardiovascular Diseases ∟ Heart Diseases ∟ Heart Valve Diseases ∟ Aortic Valve Stenosis ∟ Aortic Stenosis, Supravalvular ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Mental Disorders ∟ Mental Disorders Diagnosed in Childhood ∟ Mental Retardation ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurologic Manifestations ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders Medical Subject Headings (MeSH) ∟ Pathological Conditions, Signs and Symptoms ∟ Signs and Symptoms ∟ Neurologic Manifestations ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome 13 coordinate concepts ∟ Cri-du-Chat Syndrome \| ∟ D008607Q000193* \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ WAGR Syndrome \| ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Holoprosencephaly \| ∟ Sex Chromosome Disorders X
Broader terms:	Medical Subject Headings (MeSH) ∟ Behavior and Behavior Mechanisms ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Cardiovascular Diseases ∟ Heart Diseases ∟ Heart Valve Diseases ∟ Aortic Valve Stenosis ∟ Aortic Stenosis, Supravalvular ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Mental Disorders ∟ Mental Disorders Diagnosed in Childhood ∟ Mental Retardation ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurologic Manifestations ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome Medical Subject Headings (MeSH) ∟ Pathological Conditions, Signs and Symptoms ∟ Signs and Symptoms ∟ Neurologic Manifestations ∟ Neurobehavioral Manifestations ∟ Mental Retardation ∟ Williams Syndrome Mental Retardation > Neurobehavioral Manifestations > Behavior and Behavior Mechanisms > Medical Subject Headings (MeSH) Aortic Stenosis, Supravalvular > Aortic Valve Stenosis > Heart Valve Diseases > Heart Diseases > Cardiovascular Diseases > Medical Subject Headings (MeSH) Chromosome Disorders > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Chromosome Disorders > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mental Retardation > Mental Disorders Diagnosed in Childhood > Mental Disorders > Medical Subject Headings (MeSH) Mental Retardation > Neurobehavioral Manifestations > Neurologic Manifestations > Nervous System Diseases > Medical Subject Headings (MeSH) Mental Retardation > Neurobehavioral Manifestations > Neurologic Manifestations > Signs and Symptoms > Pathological Conditions, Signs and Symptoms > Medical Subject Headings (MeSH) X
Annotation:	do not confuse with Williams-Campbell syndrome, congen bronchomalacia causing bronchiectasis X
History note:	Aortic Valve Stenosis (1969-1995)X
historyNote*:	96 X
publicMeSHNote*:	96 X
Scope note:	A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy. X
activeMeSHYear*:	2002 \| 2003 \| 2004 \| 2005 \| 2006 \| 2007X
dateCreated*:	1995-05-24X
dateEstablished*:	1996-01-01X
dateRevised*:	2001-07-25X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	TGCX
Related term:	Elastin \| Mental Retardation X
Type:	Concept X
Coordinate terms:	Cri-du-Chat Syndrome \| D008607Q000193* \| De Lange Syndrome \| Down Syndrome \| Mental Retardation, X-Linked \| Prader-Willi Syndrome \| Rubinstein-Taybi Syndrome \| WAGR Syndrome \| Angelman Syndrome \| Beckwith-Wiedemann Syndrome \| Branchio-Oto-Renal Syndrome \| Holoprosencephaly \| Sex Chromosome Disorders X
URI:	X
Labels and equivalent concepts:	Williamsin oireyhtymä (fi) Williamsin syndrooma (fi, replaced) Williams syndrom (sv) Elfin face syndrom (sv, replaced) William-Beurens syndrom (sv, replaced) Williams-Beuren Syndrome (en, replaced) Elfin Facies Syndrome (en, replaced) Williams Contiguous Gene Syndrome (en, replaced) Contiguous Gene Syndrome, Williams (en, replaced) Syndroma Williams (la-FI, replaced) X
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