{"Name":"Graham-Boyle-Troxell syndrome","DiseaseID__c":"GARD:0002557","id":2557,"encodedName":"graham-boyle-troxell-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Graham-Boyle-Troxell syndrome","Xref_IDs__c":"707530009; C2931468; C537292; MEDGEN:444062; MONDO:0023275; ORPHA:2111","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0023275","Disease_Description__c":"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.","GARD_Name__c":"Graham-Boyle-Troxell syndrome","GARD_Synonym__c":"cystic hamartoma of lung and kidney; graham boyle troxell syndrome","Curated_Disease_Description_Source__c":"MONDO:0023275","Curated_Disease_Description__c":"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:2111","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0023275","ORPHANET_ID__c":"ORPHA:2111","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hamartomatosis quística de pulmón y riñón","Spanish_Description_Source__c":"ORPHA:2111","Spanish_Description__c":"Es un trastorno malformativo del desarrollo descrito en 3 pacientes caracterizado por la presencia de quistes hamartomatosos benignos en riñón y pulmón, presentándose clínicamente como una masa abdominal. Otras características asociadas incluyen nefromegalia hiperplásica, displasia medular y nefroma mesoblástico. No ha habido más descripciones en la literatura desde 1987.","Spanish_Disease_Name__c":"hamartomatosis quística de pulmón y riñón","Spanish_GARD_Synonym__c":"síndrome de graham-boyle-troxell","Category_Linearization__c":"ORPHA:93890","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":"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.","Curated_Disease_Description_Source__c":"MONDO:0023275","GARD_Synonym__c":"cystic hamartoma of lung and kidney; graham boyle troxell syndrome","Name":"Graham-Boyle-Troxell syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2111"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707530009","Source__c":"C2931468; MONDO:0023275","Xref__c":"707530009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537292","Source__c":"MONDO:0023275","Xref__c":"C537292"},{"URL__c":"https://www.orpha.net/en/disease/detail/2111","Source__c":"C2931468; MONDO:0023275; ORPHA:2111","Xref__c":"ORPHA:2111"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444062","Source__c":"C2931468","Xref__c":"MEDGEN:444062"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931468","Source__c":"C2931468","Xref__c":"C2931468"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0023275","Source__c":"GARD:0002557","Xref__c":"MONDO:0023275"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2111","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2111","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2111","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology","Pediatrics"],"Disease Category":["Cancer","Genetics","Nephrology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Nephrology"]},"synonyms":["cystic hamartoma of lung and kidney"," graham boyle troxell syndrome"]}