{"Name":"Chromophobe renal cell carcinoma","DiseaseID__c":"GARD:0006064","id":6064,"encodedName":"chromophobe-renal-cell-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Chromophobe renal cell carcinoma","Xref_IDs__c":"733471003; C1266042; C4146; DOID:4471; MEDGEN:266091; MONDO:0017885; ORPHA:319303","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017885","Disease_Description__c":"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.","GARD_Name__c":"Chromophobe renal cell carcinoma","GARD_Synonym__c":"chromophobe adenocarcinoma; chromophobe carcinoma; chromophobe carcinoma of kidney; chromophobe carcinoma of the kidney; chromophobe cell carcinoma of kidney; chromophobe cell carcinoma of the kidney; chromophobe cell renal carcinoma; chromophobe renal cell adenocarcinoma; chromophobe renal cell cancer; kidney chromophobe; renal carcinoma, chromophobe, somatic; renal cell carcinoma, chromophobe cell; renal cell carcinoma, chromophobe type","Curated_Disease_Description_Source__c":"GARD:0006064","Curated_Disease_Description__c":"Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:319303","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017885","ORPHANET_ID__c":"ORPHA:319303","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma de células renales cromófobo","Spanish_Description_Source__c":"ORPHA:319303","Spanish_Description__c":"El carcinoma de células renales cromófobo es un subtipo poco frecuente de carcinoma de células renales procedente de las células intercaladas del túbulo colector que se manifiesta macroscópicamente como un tumor sólido, bien definido y multilobulado que, por lo general, se diagnostica en un estadío temprano. Por lo habitual, es asintomático o puede presentarse con síntomas inespecíficos tales como pérdida de peso, fiebre o fatiga. La presentación clásica descrita en los tumores renales (hematuria, dolor en el costado y masa palpable) se observa ocasionalmente e indica, por lo general, un estadio avanzado de la enfermedad. Más frecuentemente es esporádica, aunque se han descrito varios casos familiares asociados con el síndrome de Birt-Hogg Dubé.","Spanish_Disease_Name__c":"carcinoma de células renales cromófobo","Spanish_GARD_Synonym__c":"adenocarcinoma de células renales cromófobo","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":"Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine.","Curated_Disease_Description_Source__c":"GARD:0006064","GARD_Synonym__c":"chromophobe adenocarcinoma; chromophobe carcinoma; chromophobe carcinoma of kidney; chromophobe carcinoma of the kidney; chromophobe cell carcinoma of kidney; chromophobe cell carcinoma of the kidney; chromophobe cell renal carcinoma; chromophobe renal cell adenocarcinoma; chromophobe renal cell cancer; kidney chromophobe; renal carcinoma, chromophobe, somatic; renal cell carcinoma, chromophobe cell; renal cell carcinoma, chromophobe type","Name":"Chromophobe renal cell carcinoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kidney Cancer Association","Website__c":"https://www.kidneycancer.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"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":"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:319303"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:319303"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1266042"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006064","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4471","Source__c":"MONDO:0017885","Xref__c":"DOID:4471"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1266042","Source__c":"C1266042","Xref__c":"C1266042"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4146","Source__c":"C1266042; MONDO:0017885","Xref__c":"C4146"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733471003","Source__c":"C1266042; MONDO:0017885","Xref__c":"733471003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266091","Source__c":"C1266042","Xref__c":"MEDGEN:266091"},{"URL__c":"https://www.orpha.net/en/disease/detail/319303","Source__c":"C1266042; MONDO:0017885; ORPHA:319303","Xref__c":"ORPHA:319303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128667008","Source__c":"C1266042","Xref__c":"128667008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017885","Source__c":"GARD:0006064","Xref__c":"MONDO:0017885"}],"tags":{"Specialist":["Cancer - Oncologist","Nephrology"],"Disease Category":["Cancer","Nephrology"],"Account":["Nephrology"]},"synonyms":["chromophobe adenocarcinoma"," chromophobe carcinoma"," chromophobe carcinoma of kidney"," chromophobe carcinoma of the kidney"," chromophobe cell carcinoma of kidney"," chromophobe cell carcinoma of the kidney"," chromophobe cell renal carcinoma"," chromophobe renal cell adenocarcinoma"," chromophobe renal cell cancer"," kidney chromophobe"," renal carcinoma, chromophobe, somatic"," renal cell carcinoma, chromophobe cell"," renal cell carcinoma, chromophobe type"]}