About: multisystemic smooth muscle dysfunction syndrome

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About: multisystemic smooth muscle dysfunction syndrome Goto Sponge NotDistinct Permalink

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

medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	multisystemic smooth muscle dysfunction syndrome
description	medical condition (en) медичний стан (uk)
exact match	wds:Q55784046-2FB8A374-8150-4B4A-9EFD-5FD618657B79
exact match	http://www.orpha.net/ORDO/Orphanet_404463
Mondo ID	wds:Q55784046-3C8FD50B-BFF3-4CB4-8613-221069B622E7
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013452
Mondo ID	MONDO_0013452
rdfs:label	syndrome multisystémique de dysfonctionnement des muscles lisses (fr) Multisystemische Dysfunktion der glatten Muskeln (de) Multisysteemisen sileän lihaksen toimintahäiriöoireyhtymä (fi) multisystemic smooth muscle dysfunction syndrome (en)
skos:prefLabel	syndrome multisystémique de dysfonctionnement des muscles lisses (fr) Multisystemische Dysfunktion der glatten Muskeln (de) Multisysteemisen sileän lihaksen toimintahäiriöoireyhtymä (fi) multisystemic smooth muscle dysfunction syndrome (en)
name	syndrome multisystémique de dysfonctionnement des muscles lisses (fr) Multisystemische Dysfunktion der glatten Muskeln (de) Multisysteemisen sileän lihaksen toimintahäiriöoireyhtymä (fi) multisystemic smooth muscle dysfunction syndrome (en)
instance of	wds:Q55784046-71E79D30-487F-4CB6-AE15-7938FAB4DF83 wds:Q55784046-9BA57320-9809-40C2-9802-9E27735628CB
instance of	class of disease rare disease
subclass of	wds:Q55784046-814DCE98-8BF3-4253-8AEE-799593E307AA wds:Q55784046-89802F60-47E0-487F-BDC5-BBAA6545D7A8 wds:Q55784046-8B195B02-B77D-4D48-A2A8-F5BB666B44E4 wds:Q55784046-B026CB97-DF60-4B75-BB3D-2C20FA824765 wds:Q55784046-B470A81C-8DCB-4B6D-B577-83E142B9BD88
subclass of	central nervous system and retinal vascular disease rare genetic urogenital disease genetic central nervous system and retinal vascular disease rare disease with thoracic aortic aneurysm and aortic dissection rare disease involving intestinal motility
UniProt disease ID	wds:Q55784046-706e1edc-4934-be2c-23f3-e86ab8c89a9d
Orphanet ID	wds:Q55784046-76EA5DB2-B2D0-4B9A-9E63-3DAE0451887A
genetic association	wds:Q55784046-70CF0BAF-A7FB-48C9-92A1-6507DCBC4B8E
ICD-10-CM	wds:Q55784046-5C137AE1-4F30-4026-9495-C9CA5E3A49C5
GARD rare disease ID	wds:Q55784046-01DB5B87-D742-43F8-8B39-75456799CB9D
OMIM ID	wds:Q55784046-C1A404DA-2704-437B-BD4E-C0EB028C68B2
UniProt disease ID	DI-03109
Orphanet ID	404463
genetic association	ACTA2
ICD-10-CM	I73.8
GARD rare disease ID	12811
OMIM ID	613834
skos:altLabel	Mydriasis, Congenital, With Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy (en) MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (en) Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy (en)
UMLS CUI	wds:Q55784046-721B538C-2677-482F-A55D-FCE76F774AEC
UMLS CUI	C3151201
is about of	multisystemic smooth muscle dysfunction syndrome https://www.wikidata.org/wiki/Special:EntityData/Q55784046 Multisystemic smooth muscle dysfunction syndrome https://de.wikipedia.org/wiki/Multisystemische_Dysfunktion_der_glatten_Muskeln
is main subject of	Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation. Multisystemic smooth muscle dysfunction syndrome in children: a case report and literature review High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report
is main subject of	wds:Q52698382-D56611FC-31A5-4878-A9FB-1DC456CBFB92 wds:Q42127858-DED46451-C919-4278-B10B-16DDB85E1145 wds:Q49083164-8910EFD5-03CF-4BC0-B98B-0CCACFFC7029 wds:Q52541979-9F33E152-CCB9-4E27-B3DA-B88FD0C55520 wds:Q53187248-A049E5AC-6426-4962-B2B5-827D43B8D538 wds:Q38368714-A9696236-A64D-4754-8965-9B3A2617337D wds:Q89863332-DD3FEB1E-A831-40FD-BE23-1C93ACCA694D
is genetic association of	ACTA2
is genetic association of	wds:Q17709258-D8AACB49-5253-403A-92B2-65CD7D21B2A0

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