About: marfanoid–progeroid–lipodystrophy syndrome

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About: marfanoid–progeroid–lipodystrophy syndrome Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
owl:sameAs	marfanoid–progeroid–lipodystrophy syndrome
description	human disease (en) хвороба людини (uk)
exact match	wds:Q30315066-2CB25BAE-BEA6-4CDA-8232-6BB7E2DBCB0D
exact match	http://www.orpha.net/ORDO/Orphanet_300382
Mondo ID	wds:Q30315066-D168FEF7-AC8F-4964-B81B-FDDF40CC2024
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014831
Mondo ID	MONDO_0014831
rdfs:label	marfanoid–progeroid–lipodystrophy syndrome (en) سندرم لیپودیستروفی-پروجروید-شبه مارفان (fa) syndrome d'apparence progéroïde et marfanoïde-lipodystrophie (fr) 馬凡氏早衰脂肪營養不良症候群 (zh)
skos:prefLabel	marfanoid–progeroid–lipodystrophy syndrome (en) سندرم لیپودیستروفی-پروجروید-شبه مارفان (fa) syndrome d'apparence progéroïde et marfanoïde-lipodystrophie (fr) 馬凡氏早衰脂肪營養不良症候群 (zh)
name	marfanoid–progeroid–lipodystrophy syndrome (en) سندرم لیپودیستروفی-پروجروید-شبه مارفان (fa) syndrome d'apparence progéroïde et marfanoïde-lipodystrophie (fr) 馬凡氏早衰脂肪營養不良症候群 (zh)
instance of	wds:Q30315066-1AACA0E1-C56C-496A-B0E7-8F474378B0C9 wds:Q30315066-F7C61003-1891-4F01-AEBE-CDBF12C98716
instance of	class of disease rare disease
subclass of	wds:Q30315066-19659CAA-7FA6-4FE9-BB9F-AEF0F16D2B45 wds:Q30315066-2783A2E7-59DC-470D-80CD-4067EF10AB17 wds:Q30315066-FDDA9AE0-5D83-4A5C-8EBB-7A40303B7397
subclass of	genetic systemic or rheumatologic disease systemic disease rare genetic disease
UniProt disease ID	wds:Q30315066-545d4b1a-4dcc-7a97-9119-62d5e4971b18
Orphanet ID	wds:Q30315066-9DF80FA4-2EF6-4D15-B69A-C9E57EEA30FD
genetic association	wds:Q30315066-AAD6ADB6-F3CD-4CF5-8F7F-21E4042CE542
ICD-10-CM	wds:Q30315066-9AD18D62-915B-498A-B63B-0DB753F2AD41
OMIM ID	wds:Q30315066-79638D70-A223-4E3B-8B45-3E51781C4446
UniProt disease ID	DI-04689
Orphanet ID	300382
genetic association	FBN1
ICD-10-CM	E88.1
OMIM ID	616914
skos:altLabel	MFLS (en) Marfan Lipodystrophy Syndrome (en) progeroid fibrillinopathy (en) progeroid and marfanoid aspect-lipodystrophy syndrome (en)
UMLS CUI	wds:Q30315066-23BDFCC8-BF63-4C28-B677-B3311C4FD897 wds:Q30315066-D1472E3B-BB82-453B-BCF0-C8113A047399
UMLS CUI	C4310796 C4751111
is owl:sameAs of	marfanoid–progeroid–lipodystrophy syndrome
is about of	marfanoid–progeroid–lipodystrophy syndrome https://www.wikidata.org/wiki/Special:EntityData/Q30315066 Marfanoid–progeroid–lipodystrophy syndrome https://fa.wikipedia.org/wiki/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D9%84%DB%8C%D9%BE%D9%88%D8%AF%DB%8C%D8%B3%D8%AA%D8%B1%D9%88%D9%81%DB%8C-%D9%BE%D8%B1%D9%88%D8%AC%D8%B1%D9%88%DB%8C%D8%AF-%D8%B4%D8%A8%D9%87_%D9%85%D8%A7%D8%B1%D9%81%D8%A7%D9%86
is genetic association of	FBN1
is genetic association of	wds:Q17927651-99E6382D-0211-4E76-BEE4-49178F58B3FA

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