About: Carney-Stratakis syndrome

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Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites

Attributes	Values
rdf:type	Item
description	Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites (en)
exact match	wds:Q22965412-039A6BA1-B3A4-4E5E-B817-61FF080E1791 wds:Q22965412-1F81CF28-E088-42A6-9474-27B8AE106641 wds:Q22965412-C99E3B3A-2209-41BF-A1C8-56DBDCB19053
exact match	http://purl.obolibrary.org/obo/DOID_0080533 http://identifiers.org/doid/DOID:0080533 http://www.orpha.net/ORDO/Orphanet_97286
Mondo ID	wds:Q22965412-462E9BF0-C0F5-43AC-8DD5-439938881150
Disease Ontology ID	wds:Q22965412-9EB45DC7-4B42-4464-872B-6F33C110C5B5
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011740
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080533
Mondo ID	MONDO_0011740
Disease Ontology ID	DOID:0080533
rdfs:label	Carney-Stratakis syndrome (en) Carney-Stratakis-Syndrom (de) syndrome de Carney-Stratakis (fr)
skos:prefLabel	Carney-Stratakis syndrome (en) Carney-Stratakis-Syndrom (de) syndrome de Carney-Stratakis (fr)
name	Carney-Stratakis syndrome (en) Carney-Stratakis-Syndrom (de) syndrome de Carney-Stratakis (fr)
instance of	wds:Q22965412-5BE38852-0EBD-40B1-BA12-12EC972081AE wds:Q22965412-A0A5C497-275D-4740-9414-2F1F3F3AF95A wds:Q22965412-E633357C-F1E1-4165-9954-FBEDDD974CEA
instance of	class of disease rare disease hereditary disorder
subclass of	wds:Q22965412-1F48895C-BC61-4BB4-9F41-90117969E5F1 wds:Q22965412-387cd591-4ac4-a38e-18a0-2426e73b1bb6 wds:Q22965412-61ECC441-B684-4E51-8C6B-9C7D2F46364C wds:Q22965412-649AB138-CFF1-435F-9081-88BCA96CD376 wds:Q22965412-6CCBFC11-9F9C-45D2-99A8-DB8E3D05E600 wds:Q22965412-D3AF0696-062F-40F8-9795-666870322673 wds:Q22965412-EA25AA1F-0A6C-4353-82EA-B8AA352C102E
subclass of	syndrome hereditary neoplastic syndromes rare genetic endocrine disease gastrointestinal stromal tumor autosomal dominant disease inherited tumor multiple polyglandular tumor
UniProt disease ID	wds:Q22965412-fec8c416-4902-6b6b-667c-c6cd895f7c61
Orphanet ID	wds:Q22965412-265dc785-4c67-08f6-7aa0-51cfccdd106e wds:Q22965412-8BA46D4C-D879-46A0-99D0-DA73958DC76E
genetic association	wds:Q22965412-4FFC9778-FF16-4298-98EE-7BD5B1154ED6 wds:Q22965412-55E41B51-DE81-4F5D-B146-050177706305 wds:Q22965412-9CA0419D-36A8-4B44-9F57-74031E0A3F0F
ICD-10-CM	wds:Q22965412-4F4A294F-B6DE-4E39-BA1B-7011EEF72179
GARD rare disease ID	wds:Q22965412-1C7BD45E-7E32-4CDC-904C-AB73954144B8
OMIM ID	wds:Q22965412-458d97ed-4dcb-cc6c-d4e5-4575a732d734 wds:Q22965412-95E21670-5D28-4AED-B14D-3086A10ECDFB
UniProt disease ID	DI-02128
Orphanet ID	97286
genetic association	SDHB SDHC SDHD
ICD-10-CM	D44.8
GARD rare disease ID	10643
OMIM ID	606864
skos:altLabel	Carney dyad (en) Carney-Stratakis Syndrome (en) Carney-Stratakis dyad (en) GIST-paraganglioma dyad (en) Paraganglioma and Gastrointestinal Stromal Tumor (en) Paraganglioma and gastric stromal sarcoma (en)
NCI Thesaurus ID	wds:Q22965412-DE8EEA46-C25E-4D6F-9F0F-AABA5C2EF529
different from	wds:Q22965412-8fc134ce-4324-feb3-22fb-cd9e8ed11ec7
UMLS CUI	wds:Q22965412-5E8A056E-E405-4C3C-9C96-29FDE22BAE6F
MeSH descriptor ID	wds:Q22965412-4596321F-5A16-4B73-9BC5-7CF4568170AF
on focus list of Wikimedia project	wds:Q22965412-1280507E-4026-41B4-8E01-DDCAB03CC367
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C564650
NCI Thesaurus ID	C94831
different from	Carney's triad
UMLS CUI	C1847319
MeSH descriptor ID	C564650
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	Carney-Stratakis syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q22965412 https://de.wikipedia.org/wiki/Carney-Stratakis-Syndrom
is main subject of	Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report. Cardiac paraganglioma and gastrointestinal stromal tumor: a pediatric case of Carney-Stratakis syndrome Carney-Stratakis Syndrome presenting as occult mediastinal paraganglioma Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat Paragangliomas in Carney-Stratakis Syndrome Carney-Stratakis syndrome: A dyad of familial paraganglioma and gastrointestinal stromal tumor
is main subject of	wds:Q82332573-722FF366-CEE1-4F10-8CD2-913D1E928EEE wds:Q34658237-BB562BAE-67BF-4D9F-8CA7-24D94EC14B3F wds:Q97520721-88D6DC4F-3952-4866-BC05-8EEEDBC7D501 wds:Q39756575-737D4B7A-5C11-4E94-AB54-2C94206D239B wds:Q92588596-B350F072-A66A-4E92-9BD0-9D66BEBCBFFA wds:Q54329493-1AA5416E-C7E9-4C70-885E-82676D848CF7 wds:Q99565532-708ABEB5-088F-44DD-BB5A-23888C86E749 wds:Q34986490-A554121C-3A55-448F-A901-39D1CB0AEB92
is genetic association of	SDHB SDHC SDHD

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