{"Name":"Kidney medullary carcinoma","DiseaseID__c":"GARD:0013175","id":13175,"encodedName":"kidney-medullary-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Kidney medullary carcinoma","Xref_IDs__c":"423022879; C4049328; C7572; DOID:0070475; MEDGEN:888108; MONDO:0006260; ORPHA:319319","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0006260","Disease_Description__c":"A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.","GARD_Name__c":"Kidney medullary carcinoma","GARD_Synonym__c":"carcinoma of renal medulla; renal medulla carcinoma; renal medullary carcinoma","Curated_Disease_Description_Source__c":"GARD:0013175","Curated_Disease_Description__c":"Renal medullary carcinoma is a rare kidney cancer that mostly affects young people with African ancestry. The tumor develops in the medulla of the kidney. The first sign is often blood in the urine (hematuria). Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the body. Having sickle cell trait is a risk factor for developing Renal medullary carcinoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:319319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006260","ORPHANET_ID__c":"ORPHA:319319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma medular renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma medular renal","Spanish_GARD_Synonym__c":null,"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":"Renal medullary carcinoma is a rare kidney cancer that mostly affects young people with African ancestry. The tumor develops in the medulla of the kidney. The first sign is often blood in the urine (hematuria). Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the body. Having sickle cell trait is a risk factor for developing Renal medullary carcinoma.","Curated_Disease_Description_Source__c":"GARD:0013175","GARD_Synonym__c":"carcinoma of renal medulla; renal medulla carcinoma; renal medullary carcinoma","Name":"Kidney medullary 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":"RMC Alliance","Website__c":"https://rmcalliance.org/"},{"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:319319"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4049328","Source__c":"C4049328","Xref__c":"C4049328"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=888108","Source__c":"C4049328","Xref__c":"MEDGEN:888108"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7572","Source__c":"C4049328; MONDO:0006260","Xref__c":"C7572"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070475","Source__c":"MONDO:0006260","Xref__c":"DOID:0070475"},{"URL__c":"https://www.orpha.net/en/disease/detail/319319","Source__c":"C4049328; MONDO:0006260; ORPHA:319319","Xref__c":"ORPHA:319319"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006260","Source__c":"GARD:0013175","Xref__c":"MONDO:0006260"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765095002","Source__c":"C4049328","Xref__c":"765095002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765094003","Source__c":"C4049328","Xref__c":"765094003"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022879","Xref__c":"423022879"}],"tags":{"Specialist":["Cancer - Oncologist","Nephrology"],"Disease Category":["Cancer","Nephrology"],"Account":["Nephrology"]},"synonyms":["carcinoma of renal medulla"," renal medulla carcinoma"," renal medullary carcinoma"]}