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loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba Syndrome |
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| Synonyms |
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| Definitions |
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3939 |
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| code |
C3939 |
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| Contributing_Source |
Cellosaurus |
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| definition |
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. |
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| in_subset | ||
| label |
Bannayan-Riley-Ruvalcaba Syndrome |
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| Legacy Concept Name |
Bannayan_Syndrome |
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| Preferred_Name |
Bannayan-Riley-Ruvalcaba Syndrome |
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| prefixIRI |
NCIT:C3939 |
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| prefLabel |
Bannayan-Riley-Ruvalcaba Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265326 |
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| subClassOf |
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