loading...| Preferred Name |
Carney-Stratakis Syndrome |
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| Synonyms |
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| Definitions |
A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C94831 |
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| ALT_DEFINITION |
A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso. |
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| code |
C94831 |
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| definition |
A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas. |
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| label |
Carney-Stratakis Syndrome |
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| Preferred_Name |
Carney-Stratakis Syndrome |
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| prefixIRI |
NCIT:C94831 |
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| prefLabel |
Carney-Stratakis Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1847319 |
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| subClassOf |