{"Name":"Pancreatoblastoma","DiseaseID__c":"GARD:0004210","id":4210,"encodedName":"pancreatoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Pancreatoblastoma","Xref_IDs__c":"189814006; 53618008; C0334489; C4265; C537162; DOID:6823; HP:0100757; MEDGEN:87250; MONDO:0019035; ORPHA:677","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019035","Disease_Description__c":"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.","GARD_Name__c":"Pancreatoblastoma","GARD_Synonym__c":"pancreatoblastoma (morphologic abnormality)","Curated_Disease_Description_Source__c":"MONDO:0019035","Curated_Disease_Description__c":"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:677","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019035","ORPHANET_ID__c":"ORPHA:677","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pancreatoblastoma","Spanish_Description_Source__c":"ORPHA:677","Spanish_Description__c":"Es una enfermedad gastroenterológica neoplásica poco frecuente, habitualmente hallada en niños que, por lo general, se presenta con síntomas inespecíficos de masa palpable, dolor abdominal, vómitos, ictericia, y pérdida de peso/ fallo de medro. Histológicamente está caracterizado por múltiples líneas de diferenciación (acinar, ductal, mesenquimal, neuroendocrina) y por la presencia de nidos de células escamosas.","Spanish_Disease_Name__c":"pancreatoblastoma","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 rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.","Curated_Disease_Description_Source__c":"MONDO:0019035","GARD_Synonym__c":"pancreatoblastoma (morphologic abnormality)","Name":"Pancreatoblastoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pancreatic Cancer Action Network","Website__c":"https://www.pancan.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pancreatic tumor","Tag_Category__c":"Account","curated_tag_name":"Pancreatic tumors"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:677"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:677"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/677","Source__c":"C0334489; MONDO:0019035; ORPHA:677","Xref__c":"ORPHA:677"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334489","Source__c":"C0334489","Xref__c":"C0334489"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4265","Source__c":"C0334489; MONDO:0019035","Xref__c":"C4265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87250","Source__c":"C0334489","Xref__c":"MEDGEN:87250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6823","Source__c":"MONDO:0019035","Xref__c":"DOID:6823"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537162","Source__c":"MONDO:0019035","Xref__c":"C537162"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019035","Source__c":"GARD:0004210","Xref__c":"MONDO:0019035"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=189814006","Source__c":"C0334489","Xref__c":"189814006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=53618008","Source__c":"C0334489","Xref__c":"53618008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100757","Source__c":"C0334489","Xref__c":"HP:0100757"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition lesions in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005213","HPO_Synonym__c":"Pancreatic calcifications","HPO_Name__c":"Pancreatic calcification","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural lymph node abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002733","HPO_Synonym__c":"Abnormal lymph node histology; Abnormality of the lymph nodes","HPO_Name__c":"Abnormal lymph node morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology","Pediatrics"],"Disease Category":["Cancer","Gastroenterology"],"Account":["Pancreatic tumor"]},"synonyms":["pancreatoblastoma (morphologic abnormality)"]}