Paraganglioma and gastric stromal sarcoma

Preferred Label : Paraganglioma and gastric stromal sarcoma;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Carney-stratakis syndrome; Paraganglioma and gastrointestinal stromal tumor;

Prefixed ID : #606864;

Details

Origin ID

606864;

UMLS CUI

C1847319;

Automatic exact mappings (from CISMeF team)
- Carney Stratakis syndrome [ICD-11 More detail]
- Carney-Stratakis syndrome [DO Concept]
- Gastrointestinal Stromal Tumor [NCIt concept]
- Gastrointestinal stroma tumor [HPO term]
- Gastrointestinal stromal tumor [ORDO Disease]
- Gastrointestinal stromal tumor, uncertain malignant potential (morphologic abnormality) [SNOMED CT concept]
- gastrointestinal stromal tumors [MeSH Descriptor]
Currated CISMeF NLP mapping
- Carney Stratakis syndrome [Disease (Nov.)]
- Carney-Stratakis Syndrome [NCIt concept]
- Carney-Stratakis syndrome [MeSH concept]
- Carney-Stratakis syndrome [ORDO Disease]
- Carney-Stratakis syndrome [MeSH Supplementary Concept]
- Paraganglioma and gastric stromal sarcoma syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Carney-Stratakis syndrome [DO Concept]
Genes related to phenotype
- Succinate Dehydrogenase complex, subunit D [OMIM gene]
- Succinate dehydrogenase Complex, subunit C [OMIM gene]
- Succinate dehydrogenase complex, iron-sulfur subunit b [OMIM gene]
HPO term(s)
- Neoplasm of the gastrointestinal tract [HPO term]
- Paraganglioma [HPO term]
ORDO concept(s)
- Carney-Stratakis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carney Stratakis syndrome [Disease (Nov.)]
- Carney-Stratakis Syndrome [NCIt concept]
- Carney-Stratakis syndrome [MeSH Supplementary Concept]
- Carney-Stratakis syndrome [MeSH concept]
- Carney-Stratakis syndrome [ORDO Disease]
- Paraganglioma and gastric stromal sarcoma syndrome (disorder) [SNOMED CT concept]

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