Preferred Name |
Hereditary Leiomyomatosis and Renal Cell Carcinoma |
|
Synonyms |
hereditary leiomyomatosis and renal cell cancer syndrome Hereditary leiomyomatosis & RCC-associated renal cell carcinoma Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome FH Deficiency Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary Leiomyomatosis and Renal Cell Carcinoma HLRCC |
|
Definitions |
An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51302 |
|
ALT_DEFINITION |
A rare inherited disorder that increases the risk of developing benign (not cancer) tumors of the skin and the uterus (leiomyomas) and malignant (cancer) tumors of the uterus (leiomyosarcoma) and the kidney. |
|
code |
C51302 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168661 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168656 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168662 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
|
Contributing_Source |
Cellosaurus CCPS CTRP GDC |
|
DEFINITION |
An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus. |
|
Display_Name |
Hereditary Leiomyomatosis and Renal Cell Cancer |
|
FULL_SYN |
hereditary leiomyomatosis and renal cell cancer syndrome Hereditary leiomyomatosis & RCC-associated renal cell carcinoma Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome FH Deficiency Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary Leiomyomatosis and Renal Cell Carcinoma HLRCC |
|
Is_Value_For_GDC_Property | ||
label |
Hereditary Leiomyomatosis and Renal Cell Carcinoma |
|
Legacy Concept Name |
Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer |
|
Maps_To |
Hereditary leiomyomatosis & RCC-associated renal cell carcinoma Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome-associated renal cell carcinoma Hereditary Leiomyomatosis and Renal Cell Carcinoma |
|
Neoplastic_Status |
Malignant |
|
Preferred_Name |
Hereditary Leiomyomatosis and Renal Cell Carcinoma |
|
prefixIRI |
Thesaurus:C51302 |
|
Related_To_Genetic_Biomarker | ||
Semantic_Type |
Neoplastic Process |
|
UMLS_CUI |
C1708350 |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/NCIT_C51302 | BERO | LOOM | |
http://purl.bioontology.org/ontology/SNOMEDCT/1162799008 | SNOMEDCT | LOOM |