About: heart defects-limb shortening syndrome

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About: heart defects-limb shortening syndrome 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:Q55781717-68762C0A-A475-4A73-A292-5260B2395F7E
exact match	http://www.orpha.net/ORDO/Orphanet_1354
Mondo ID	wds:Q55781717-7AB11E90-BE10-4714-A207-422227BAB3D5
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008917
Mondo ID	MONDO_0008917
rdfs:label	heart defects-limb shortening syndrome (en)
skos:prefLabel	heart defects-limb shortening syndrome (en)
name	heart defects-limb shortening syndrome (en)
instance of	wds:Q55781717-75321A71-3F0B-414E-8A30-A9BA8CE7BCDC wds:Q55781717-BF450C79-8ABC-46FF-BD8D-C3BD84BDF8F7
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55781717-2275573A-0713-4B2A-8BC3-D29404228A72 wds:Q55781717-65623820-7181-4E8A-8ED5-7F70F7644A6F wds:Q55781717-A9E9D582-D792-44E2-B393-1E2C2DF7AA8F wds:Q55781717-BF336FE5-C69E-486E-8196-F73C72484BFC
subclass of	autosomal recessive disease genetic cardiac disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis
Orphanet ID	wds:Q55781717-9EEC8A3A-E790-4B21-8A0B-EE008E5D8299
ICD-10-CM	wds:Q55781717-910BE05E-7254-4830-850B-F6C1E513367E
GARD rare disease ID	wds:Q55781717-573EB2B4-18D6-4D9B-A0C0-0BC967B5FAA8
OMIM ID	wds:Q55781717-77DEB801-C46B-4704-99FE-A311F6AEB3ED
Orphanet ID	1354
ICD-10-CM	Q87.2
GARD rare disease ID	2613
OMIM ID	212135
skos:altLabel	CARDIOSKELETAL SYNDROME, KUWAITI TYPE (en) Heart defects and limb shortening (en) cardioskeletal syndrome kuwaiti type (en) heart defect and limb shortening syndrome (en)
UMLS CUI	wds:Q55781717-A97CA6CD-B8C7-4F6F-B065-B747A507F89A
MeSH descriptor ID	wds:Q55781717-68C5628E-28C6-4FD9-BC3C-B6C20F588543
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535850
UMLS CUI	C1859327
MeSH descriptor ID	C535850
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55781717

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