{"Name":"Transient tyrosinemia of the newborn","DiseaseID__c":"GARD:0005388","id":5388,"encodedName":"transient-tyrosinemia-of-the-newborn","IsDeleted":false,"Disease_Name_Full__c":"Transient tyrosinemia of the newborn","Xref_IDs__c":"C0268485; MEDGEN:541331; MONDO:0018083; ORPHA:3402","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018083","Disease_Description__c":"A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.","GARD_Name__c":"Transient tyrosinemia of the newborn","GARD_Synonym__c":"neonatal tyrosinemia; transient neonatal hypertyrosinemia; transient neonatal tyrosinemia; transient tyrosinemia of the neonate; transitory neonatal tyrosinemia","Curated_Disease_Description_Source__c":"MONDO:0018083","Curated_Disease_Description__c":"A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3402","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018083","ORPHANET_ID__c":"ORPHA:3402","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tirosinemia transitoria del recién nacido","Spanish_Description_Source__c":"ORPHA:3402","Spanish_Description__c":"Es un trastorno poco frecuente del metabolismo de la tirosina caracterizado por tirosinemia, hiperfenilalaninemia moderada y tirosiluria que generalmente se resuelve después de los dos meses de edad. No muestra síntomas clínicos y se detecta mediante pruebas de cribado neonatal. A menudo se observa en lactantes prematuros.","Spanish_Disease_Name__c":"tirosinemia transitoria del recién nacido","Spanish_GARD_Synonym__c":"tirosinemia transitoria del neonato","Category_Linearization__c":"ORPHA:68367","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 disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.","Curated_Disease_Description_Source__c":"MONDO:0018083","GARD_Synonym__c":"neonatal tyrosinemia; transient neonatal hypertyrosinemia; transient neonatal tyrosinemia; transient tyrosinemia of the neonate; transitory neonatal tyrosinemia","Name":"Transient tyrosinemia of the newborn","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"flok","Website__c":"https://flok.org/"}],"GARD_Disease_Tag__c":[{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3402"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3402","Source__c":"C0268485; MONDO:0018083; ORPHA:3402","Xref__c":"ORPHA:3402"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268485","Source__c":"C0268485","Xref__c":"C0268485"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=541331","Source__c":"C0268485","Xref__c":"MEDGEN:541331"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=75387001","Source__c":"C0268485","Xref__c":"75387001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018083","Source__c":"GARD:0005388","Xref__c":"MONDO:0018083"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["neonatal tyrosinemia"," transient neonatal hypertyrosinemia"," transient neonatal tyrosinemia"," transient tyrosinemia of the neonate"," transitory neonatal tyrosinemia"]}