About: Zori–Stalker–Williams syndrome

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About: Zori–Stalker–Williams syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

genetic disease

Attributes	Values
rdf:type	Item
description	genetic disease (en)
exact match	wds:Q8074470-A2902D00-D609-498C-B766-54F019B0E343
exact match	http://www.orpha.net/ORDO/Orphanet_2835
Mondo ID	wds:Q8074470-B2847A2B-63F1-4727-A70B-AD39208FFC2D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010883
Mondo ID	MONDO_0010883
rdfs:label	Zori–Stalker–Williams syndrome (en) syndrome de Zori-Stalker-Williams (fr)
skos:prefLabel	Zori–Stalker–Williams syndrome (en) syndrome de Zori-Stalker-Williams (fr)
name	Zori–Stalker–Williams syndrome (en) syndrome de Zori-Stalker-Williams (fr)
instance of	wds:Q8074470-EA268CFA-8097-4816-B702-B4E1BC4D4197 wds:Q8074470-ED9331D0-7729-4095-B552-EC3CB22BEC92
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q8074470-287f54fc-44b8-8e28-622f-efac6b2b4758 wds:Q8074470-2DECE5FC-B10F-4043-9B71-755EDA9674C5 wds:Q8074470-38A7DE41-0374-4000-8390-0252F92D9F68 wds:Q8074470-766A18F5-0616-42FD-9955-F4D0B7CC821A wds:Q8074470-a8480e52-4d80-e768-abfb-932fdfcc2305 wds:Q8074470-cf5fb36e-4320-9662-435b-e4e146321e79
subclass of	macrocephaly pectus excavatum Dysplastic nail multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis syndromic nail anomaly
Orphanet ID	wds:Q8074470-ee81f97c-4e13-6b25-b6bf-8fab580d9150
GARD rare disease ID	wds:Q8074470-473A766B-DCFB-4CAD-8B3D-9B0041B9E1DC
OMIM ID	wds:q8074470-6608A726-D70F-49EB-B588-48BBA7F8B049
Orphanet ID	2835
GARD rare disease ID	374
OMIM ID	600399
skos:altLabel	Pectus excavatum - macrocéphalie - dysplasie unguéale (fr) Zori-Stalker-Williams syndrome (en) pectus excavatum, macrocephaly, short stature and dysplastic nails (en) PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (en)
UMLS CUI	wds:Q8074470-09ABF860-413F-4389-B5A0-7620DB5E4913 wds:Q8074470-3CFFE76D-96AC-44E0-B6A0-B0C851B708DB
MeSH descriptor ID	wds:Q8074470-b03edb7a-43b4-f43a-4475-1ace6f6442cd
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536728
UMLS CUI	C1838160 C2931302
MeSH descriptor ID	C536728
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q8074470 Zori–Stalker–Williams syndrome

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