Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Hereditary Leiomyomatosis and Renal Cell Carcinoma
Synonyms
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://purl.obolibrary.org/obo/NCIT_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
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
in_subset

http://purl.obolibrary.org/obo/NCIT_C168656

http://purl.obolibrary.org/obo/NCIT_C168662

http://purl.obolibrary.org/obo/NCIT_C168661

http://purl.obolibrary.org/obo/NCIT_C177537

http://purl.obolibrary.org/obo/NCIT_C177516

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C177281

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168

http://purl.obolibrary.org/obo/NCIT_C157711
Is_Value_For_GDC_Property

http://purl.obolibrary.org/obo/NCIT_C177621

http://purl.obolibrary.org/obo/NCIT_C17103
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

NCIT:C51302
prefLabel

Hereditary Leiomyomatosis and Renal Cell Carcinoma
Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C95268
Semantic_Type

Neoplastic Process
UMLS_CUI

C1708350
subClassOf

http://purl.obolibrary.org/obo/NCIT_C3266

http://purl.obolibrary.org/obo/NCIT_C39789
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