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loading...| Preferred Name |
Carney-Stratakis syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_97286 |
| alternative_term |
GIST-paraganglioma dyad Carney-Stratakis dyad Carney dyad Paraganglioma and gastric stromal sarcoma |
| definition |
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 |
| has_age_of_onset |
Adult Adolescent |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:D44.8 ICD-11:2F7A.0 OMIM:606864 UMLS:C1847319 |
| label |
Carney-Stratakis syndrome |
| notation |
ORPHA:97286 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_97286 |
| prefLabel |
Carney-Stratakis syndrome |
| present_in |
Worldwide AND has_cases/families_value : 20.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |
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