About: arterial tortuosity syndrome

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connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta

Attributes	Values
rdf:type	Item
owl:sameAs	arterial tortuosity syndrome
description	Krankheit (de) maladie rare (fr) хвороба (uk) connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta (en)
exact match	wds:Q4216194-0B0C652D-F7D4-4600-BDDB-06141DEA4071 wds:Q4216194-1D1DD5C2-2331-4A51-8FB0-F47D26BA3B6C wds:Q4216194-A71A9EB1-4FBE-4870-B781-9BDE03012E74
exact match	http://purl.obolibrary.org/obo/DOID_0050645 http://identifiers.org/doid/DOID:0050645 http://www.orpha.net/ORDO/Orphanet_3342
health specialty	wds:Q4216194-C4C172EC-3382-453C-848A-D7202D8123BC
ICD-10	wds:Q4216194-395a480f-45ab-1fe4-d39e-43c8faa8cf8d wds:Q4216194-7aa932bf-443a-4f9f-8129-3aa466fd62a5
Mondo ID	wds:Q4216194-15426601-0CDB-4967-98E4-9246DF1A5A9A
DiseasesDB	wds:Q4216194-E0014895-660D-43A9-A711-88374C1B0EAA
Disease Ontology ID	wds:Q4216194-30E5481C-A9FA-4CB9-840C-DA917FB49CCB
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008818
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050645
health specialty	cardiology
ICD-10	Q87.82
Mondo ID	MONDO_0008818
DiseasesDB	35153
Disease Ontology ID	DOID:0050645
rdfs:label	Sindrom AT (id) Sindrom arterijske vijugavosti (bs) Zespół krętości tętnic (pl) arterial tortuosity syndrome (en) sindrom tortuoznih arterij (sl) syndrome de tortuosité artérielle (fr) متلازمة التقوس الشرياني (ar)
skos:prefLabel	Sindrom AT (id) Sindrom arterijske vijugavosti (bs) Zespół krętości tętnic (pl) arterial tortuosity syndrome (en) sindrom tortuoznih arterij (sl) syndrome de tortuosité artérielle (fr) متلازمة التقوس الشرياني (ar)
name	Sindrom AT (id) Sindrom arterijske vijugavosti (bs) Zespół krętości tętnic (pl) arterial tortuosity syndrome (en) sindrom tortuoznih arterij (sl) syndrome de tortuosité artérielle (fr) متلازمة التقوس الشرياني (ar)
Freebase ID	wds:Q4216194-899BCE6F-F9B0-46FB-A4C0-E217EC5E3384
Freebase ID	/m/02qj2nr
instance of	wds:Q4216194-2E846C60-A6AE-41FB-9D6D-40954B1E1C61 wds:Q4216194-70618FD6-7E6F-4F97-8D4D-7FE478CD3E5E wds:Q4216194-8008D944-96F8-4D57-BC28-AB6010F6664E
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q4216194-06F70F9C-3CD3-40A4-A7CC-B307895788B0 wds:Q4216194-8AF3EFB2-7AF1-466D-82AD-BC7D208EAEE5 wds:Q4216194-C8103839-1824-4D03-A981-F84C37FD183D wds:Q4216194-CE68FC3E-4A04-4067-819A-BC4688214E84
subclass of	connective tissue disease vascular skin disease genetic skin vascular disorder rare disease with thoracic aortic aneurysm and aortic dissection
KEGG ID	wds:Q4216194-718911EC-5D58-43C6-8CDC-644F81079209
KEGG ID	http://www.kegg.jp/entry/H00919
KEGG ID	H00919
UniProt disease ID	wds:Q4216194-9f679c37-4fae-6188-458f-ed6aa3f0a5f6
Orphanet ID	wds:Q4216194-ea26058b-4a8b-a1bc-3a4c-70e78d45f2a5
genetic association	wds:Q4216194-6131262E-5C60-4C2B-877E-7259F6CDAC84
ICD-10-CM	wds:Q4216194-D6846FBB-A4E6-489D-B699-D955D8E97866 wds:Q4216194-F914CB3F-B181-46FF-A980-340937690098
GARD rare disease ID	wds:Q4216194-824479B9-71DD-482B-9BF1-ED5C555DC230
OMIM ID	wds:Q4216194-C0C24C95-0891-49B9-8441-CE533F64E279
Genetics Home Reference Conditions ID	wds:Q4216194-3012F505-0C17-4192-84FD-BA43FEF95B34
UniProt disease ID	DI-01190
Orphanet ID	3342
genetic association	SLC2A10
ICD-10-CM	I77.1 Q87.82
GARD rare disease ID	774
OMIM ID	208050
Genetics Home Reference Conditions ID	arterial-tortuosity-syndrome
skos:altLabel	ATS (en) ATS (fr) ATS (sl) Arterial Tortuosity (en) ARTERIAL TORTUOSITY SYNDROME (en) ARTERIAL TORTUOSITY SYNDROME; ATS (en) Syndrome de flexuosité artérielle (fr)
UMLS CUI	wds:Q4216194-9C9CAB9C-23C5-40AE-86AC-BD4F69F6CD39
Quora topic ID	wds:Q4216194-6A1D067E-D923-461E-B9D2-F5327BEC0BE8
MeSH descriptor ID	wds:Q4216194-ED94B076-B65D-4FB9-B485-4B31B8D4CDAD wds:Q4216194-f5ef8bc2-48df-8a06-d5a6-d4a562b9cbf0
on focus list of Wikimedia project	wds:Q4216194-3452B499-2130-40F8-867E-2121CD194CE3
Microsoft Academic ID	wds:Q4216194-75535872-5EAF-4055-BFE5-32EBE0C5F782 wds:Q4216194-79E8F0D4-5C9C-4745-A2A4-641AF9AB84A6
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C565942
Microsoft Academic ID	https://makg.org/entity/2780622321 https://makg.org/entity/2909835851
UMLS CUI	C1859726
Quora topic ID	Arterial-Tortuosity-Syndrome

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