{"Name":"Hereditary clear cell renal cell carcinoma","DiseaseID__c":"GARD:0009571","id":9571,"encodedName":"hereditary-clear-cell-renal-cell-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Hereditary clear cell renal cell carcinoma","Xref_IDs__c":"764961009; C1333985; C36260; DOID:7192; MEDGEN:234343; MONDO:0018492; ORPHA:422526","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018492","Disease_Description__c":"A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.","GARD_Name__c":"Hereditary clear cell renal cell carcinoma","GARD_Synonym__c":"hereditary clear cell renal carcinoma; hereditary clear cell renal cell adenocarcinoma; hereditary clear cell renal cell cancer; hereditary conventional (clear cell) renal cell carcinoma; hereditary primary clear cell renal cell adenocarcinoma; hereditary primary clear cell renal cell carcinoma","Curated_Disease_Description_Source__c":"MONDO:0018492","Curated_Disease_Description__c":"A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:422526","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018492","ORPHANET_ID__c":"ORPHA:422526","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma renal hereditario de células claras","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma renal hereditario de células claras","Spanish_GARD_Synonym__c":"adenocarcinoma renal hereditario de células claras","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.","Curated_Disease_Description_Source__c":"MONDO:0018492","GARD_Synonym__c":"hereditary clear cell renal carcinoma; hereditary clear cell renal cell adenocarcinoma; hereditary clear cell renal cell cancer; hereditary conventional (clear cell) renal cell carcinoma; hereditary primary clear cell renal cell adenocarcinoma; hereditary primary clear cell renal cell carcinoma","Name":"Hereditary clear cell renal cell carcinoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"KCCure","Website__c":"https://kccure.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:422526"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009571","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1333985","Source__c":"C1333985","Xref__c":"C1333985"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=234343","Source__c":"C1333985","Xref__c":"MEDGEN:234343"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C36260","Source__c":"C1333985; MONDO:0018492","Xref__c":"C36260"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764961009","Source__c":"C1333985; MONDO:0018492","Xref__c":"764961009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A7192","Source__c":"MONDO:0018492","Xref__c":"DOID:7192"},{"URL__c":"https://www.orpha.net/en/disease/detail/422526","Source__c":"C1333985; MONDO:0018492; ORPHA:422526","Xref__c":"ORPHA:422526"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018492","Source__c":"GARD:0009571","Xref__c":"MONDO:0018492"}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology"],"Disease Category":["Cancer","Genetics","Nephrology"],"Cause":["Genetics"],"Account":["Nephrology"]},"synonyms":["hereditary clear cell renal carcinoma"," hereditary clear cell renal cell adenocarcinoma"," hereditary clear cell renal cell cancer"," hereditary conventional (clear cell) renal cell carcinoma"," hereditary primary clear cell renal cell adenocarcinoma"," hereditary primary clear cell renal cell carcinoma"]}