{"Name":"Urinary bladder small cell neuroendocrine carcinoma","DiseaseID__c":"GARD:0011923","id":11923,"encodedName":"urinary-bladder-small-cell-neuroendocrine-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Urinary bladder small cell neuroendocrine carcinoma","Xref_IDs__c":"C1332564; C9461; DOID:7132; MEDGEN:231950; MONDO:0004114; ORPHA:284400","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0004114","Disease_Description__c":"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.","GARD_Name__c":"Urinary bladder small cell neuroendocrine carcinoma","GARD_Synonym__c":"bladder small cell neuroendocrine cancer; bladder small cell neuroendocrine carcinoma; poorly differentiated neuroendocrine carcinoma of the bladder; sccb; small cell bladder cancer; small cell bladder carcinoma; small cell carcinoma of the bladder; small cell carcinoma of the urinary bladder; small cell carcinoma of urinary bladder; small cell neuroendocrine carcinoma of bladder; small cell neuroendocrine carcinoma of the urinary bladder; small cell neuroendocrine carcinoma of urinary bladder; small cell/neuroendocrine carcinoma of urinary bladder; urinary bladder small cell carcinoma","Curated_Disease_Description_Source__c":"MONDO:0004114","Curated_Disease_Description__c":"A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:284400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0004114","ORPHANET_ID__c":"ORPHA:284400","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma de células pequeñas de vejiga","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma de células pequeñas de vejiga","Spanish_GARD_Synonym__c":"carcinoma de células pequeñas de la vejiga urinaria; carcinoma de vejiga de células pequeñas; carcinoma neuroendocrino pobremente diferenciado de la vejiga; cáncer de vejiga de células pequeñas; sccb","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 highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.","Curated_Disease_Description_Source__c":"MONDO:0004114","GARD_Synonym__c":"bladder small cell neuroendocrine cancer; bladder small cell neuroendocrine carcinoma; poorly differentiated neuroendocrine carcinoma of the bladder; sccb; small cell bladder cancer; small cell bladder carcinoma; small cell carcinoma of the bladder; small cell carcinoma of the urinary bladder; small cell carcinoma of urinary bladder; small cell neuroendocrine carcinoma of bladder; small cell neuroendocrine carcinoma of the urinary bladder; small cell neuroendocrine carcinoma of urinary bladder; small cell/neuroendocrine carcinoma of urinary bladder; urinary bladder small cell carcinoma","Name":"Urinary bladder small cell neuroendocrine carcinoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bladder Cancer Advocacy Network","Website__c":"https://bcan.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284400"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A7132","Source__c":"MONDO:0004114","Xref__c":"DOID:7132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=231950","Source__c":"C1332564","Xref__c":"MEDGEN:231950"},{"URL__c":"https://www.orpha.net/en/disease/detail/284400","Source__c":"C1332564; MONDO:0004114; ORPHA:284400","Xref__c":"ORPHA:284400"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9461","Source__c":"C1332564; MONDO:0004114","Xref__c":"C9461"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1332564","Source__c":"C1332564","Xref__c":"C1332564"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004114","Source__c":"GARD:0011923","Xref__c":"MONDO:0004114"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718604008","Source__c":"C1332564","Xref__c":"718604008"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009725","HPO_Synonym__c":"Bladder cancer","HPO_Name__c":"Bladder neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine","Urologist"],"Disease Category":["Cancer","Endocrine","Urogenital Disorders"]},"synonyms":["bladder small cell neuroendocrine cancer"," bladder small cell neuroendocrine carcinoma"," poorly differentiated neuroendocrine carcinoma of the bladder"," sccb"," small cell bladder cancer"," small cell bladder carcinoma"," small cell carcinoma of the bladder"," small cell carcinoma of the urinary bladder"," small cell carcinoma of urinary bladder"," small cell neuroendocrine carcinoma of bladder"," small cell neuroendocrine carcinoma of the urinary bladder"," small cell neuroendocrine carcinoma of urinary bladder"," small cell/neuroendocrine carcinoma of urinary bladder"," urinary bladder small cell carcinoma"]}