{"Name":"Choroid plexus carcinoma","DiseaseID__c":"GARD:0008238","id":8238,"encodedName":"choroid-plexus-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Choroid plexus carcinoma","Xref_IDs__c":"1156471001; 188292007; 423022938; 88252006; C0431109; C4715; C562943; DOID:5648; HP:0030392; MEDGEN:96557; MONDO:0016718; ORPHA:251899","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","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:0016718","Disease_Description__c":"A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)","GARD_Name__c":"Choroid plexus carcinoma","GARD_Synonym__c":"anaplastic choroid plexus papilloma; carcinoma of choroid plexus; carcinoma of the choroid plexus; carcinoma, choroid plexus, malignant; choroid plexus carcinoma (morphologic abnormality); choroid plexus papilloma, anaplastic; choroid plexus papilloma, malignant; cpc","Curated_Disease_Description_Source__c":"MONDO:0016718","Curated_Disease_Description__c":"A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:251899","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016718","ORPHANET_ID__c":"ORPHA:251899","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma del plexo coroideo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma del plexo coroideo","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":"A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)","Curated_Disease_Description_Source__c":"MONDO:0016718","GARD_Synonym__c":"anaplastic choroid plexus papilloma; carcinoma of choroid plexus; carcinoma of the choroid plexus; carcinoma, choroid plexus, malignant; choroid plexus carcinoma (morphologic abnormality); choroid plexus papilloma, anaplastic; choroid plexus papilloma, malignant; cpc","Name":"Choroid plexus carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251899"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0431109"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008238","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4715","Source__c":"C0431109; MONDO:0016718","Xref__c":"C4715"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431109","Source__c":"C0431109","Xref__c":"C0431109"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=188292007","Source__c":"MONDO:0016718","Xref__c":"188292007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96557","Source__c":"C0431109","Xref__c":"MEDGEN:96557"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562943","Source__c":"MONDO:0016718","Xref__c":"C562943"},{"URL__c":"https://www.orpha.net/en/disease/detail/251899","Source__c":"C0431109; MONDO:0016718; ORPHA:251899","Xref__c":"ORPHA:251899"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5648","Source__c":"MONDO:0016718","Xref__c":"DOID:5648"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030392","Source__c":"C0431109","Xref__c":"HP:0030392"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156471001","Source__c":"C0431109","Xref__c":"1156471001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016718","Source__c":"GARD:0008238","Xref__c":"MONDO:0016718"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=88252006","Source__c":"C0431109","Xref__c":"88252006"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022938","Xref__c":"423022938"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["anaplastic choroid plexus papilloma"," carcinoma of choroid plexus"," carcinoma of the choroid plexus"," carcinoma, choroid plexus, malignant"," choroid plexus carcinoma (morphologic abnormality)"," choroid plexus papilloma, anaplastic"," choroid plexus papilloma, malignant"," cpc"]}