About: Rothmund-Thomson syndrome type 2

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About: Rothmund-Thomson syndrome type 2 Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
exact match	wds:Q55786172-58A57873-B9A5-445D-816D-1C6C20BDE067
exact match	http://www.orpha.net/ORDO/Orphanet_221016
Mondo ID	wds:Q55786172-3E5E47D8-874E-4E48-BD2F-C4923544FD1A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0016369
Mondo ID	MONDO_0016369
rdfs:label	Rothmund-Thomson syndrome type 2 (en)
skos:prefLabel	Rothmund-Thomson syndrome type 2 (en)
name	Rothmund-Thomson syndrome type 2 (en)
instance of	wds:Q55786172-26AD73CA-4D51-415E-AB9E-46F70E99540C wds:Q55786172-DFFEB445-35B1-4232-85BD-F111F57CF3E7
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55786172-0ACE7E58-0517-40A1-9211-5ED52B37D5E8 wds:Q55786172-DB31B273-58EC-4650-904A-036F6C37486C wds:Q55786172-E7D2FE04-CC55-424E-8DCA-BF1E1DFBFCC3
subclass of	Rothmund-Thomson syndrome polymalformative genetic syndrome with increased risk of developing cancer disease with potential neoplastic degeneration associated with ocular features
UniProt disease ID	wds:Q55786172-dbecd634-4a27-7b60-5266-ea107aaa8abd
Orphanet ID	wds:Q55786172-9DA9FC84-BE24-47BF-B627-8B82F9FFF1C1
genetic association	wds:Q55786172-EED4F5DA-15C7-4850-A26B-EB3E645749BA
ICD-10-CM	wds:Q55786172-E508F30C-5EB6-4731-AD6E-7B6D396E1AF9
OMIM ID	wds:Q55786172-38a1c609-4dde-fce3-db83-757e1550c5c5
UniProt disease ID	DI-02274
Orphanet ID	221016
genetic association	RECQL4
ICD-10-CM	Q82.8
OMIM ID	268400
skos:altLabel	RTS2 (en) Poikiloderma of Rothmund-Thomson type 2 (en) ROTHMUND-THOMSON SYNDROME, TYPE 2 (en)
UMLS CUI	wds:Q55786172-F8F17E01-B40C-44AE-8D33-1C9231B1782A
ICD-11 (foundation)	wds:Q55786172-E5A1C30A-E06D-4ED2-A159-55192711B99E
UMLS CUI	C5203410
ICD-11 (foundation)	2111040755
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55786172
is main subject of	Rothmund-Thomson syndrome type 2 - a rare cause of chronic wounds
is main subject of	wds:Q92033746-26FF2C91-FDF8-4340-AD37-59518014607E
is genetic association of	RECQL4
is genetic association of	wds:Q18034064-5EC4E063-AC1B-4E08-9FC9-2D33B74AAA75

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