About: W syndrome

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W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.

Attributes	Values
rdf:type	Item
description	W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. (en)
exact match	wds:Q1386976-36781CEF-4450-4338-8700-3F34245E0A2F
exact match	http://www.orpha.net/ORDO/Orphanet_2804
Mondo ID	wds:Q1386976-D5ECA98F-BF89-4659-B5C2-2DA835DDE28C
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010708
Mondo ID	MONDO_0010708
rdfs:label	Pallister-W-Syndrom (de) W syndrome (en) syndrome W (fr)
skos:prefLabel	Pallister-W-Syndrom (de) W syndrome (en) syndrome W (fr)
name	Pallister-W-Syndrom (de) W syndrome (en) syndrome W (fr)
instance of	wds:Q1386976-19BCB9B4-58D4-40EF-AF8D-1BED6BEB9D0E wds:Q1386976-595DBE4F-4F03-4BF2-88A8-E0214722DBDC wds:Q1386976-610966AF-5096-4E96-90F8-8CA4E04663C6 wds:Q1386976-EB3B9A9F-AEF6-4590-BB9E-4F8318CE98B6
instance of	class of disease hereditary disorder head and neck disease developmental defect during embryogenesis
subclass of	wds:Q1386976-0BAA97CC-8603-4DCC-B6A8-06CD83C26559 wds:Q1386976-1C196E5A-8B66-466E-A3BE-9BF5035FDD5D wds:Q1386976-79885A6A-EEDE-4DDB-B097-A19E21D3DF7E wds:Q1386976-D30B0461-C2A0-4755-BC63-AA21A08E220B wds:Q1386976-ED870949-E869-4D99-94F6-C4C1777FB59C
subclass of	epilepsy syndrome X-linked intellectual disability orofacial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability rare genetic bone disease
Google Knowledge Graph ID	wds:Q1386976-AE93FDA7-D3E1-4765-93E1-D1743D9359E6
Google Knowledge Graph ID	http://g.co/kg/g/122hpc75
Google Knowledge Graph ID	/g/122hpc75
Orphanet ID	wds:Q1386976-1167ec93-4450-9d2e-f7dc-0e34538ddaf2
ICD-10-CM	wds:Q1386976-57958EBA-2946-4C4F-9F45-3286767D631B
OMIM ID	wds:Q1386976-A2167B0D-3CDC-49E5-9D20-E53E6A19756A
Orphanet ID	2804
ICD-10-CM	Q87.8
OMIM ID	311450
skos:altLabel	PALLISTER W SYNDROME (en) Pallister-W syndrome (en) W Syndrome (en)
UMLS CUI	wds:Q1386976-931FB956-31DA-46B3-AD79-026CDC126FBC
MeSH descriptor ID	wds:Q1386976-D0E1C27D-5D9E-4F1E-950E-F6A594E6BD26
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538106
UMLS CUI	C0796110
MeSH descriptor ID	C538106
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q1386976 https://de.wikipedia.org/wiki/Pallister-W-Syndrom
is main subject of	A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. W syndrome: report of three cases and review
is main subject of	wds:Q52035127-EFB052BE-40B1-45B8-8EB1-B539F8CB1860 wds:Q33792521-CC99B14E-925E-4F30-A2F6-856A00625570

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