{"Name":"4-hydroxyphenylacetic aciduria","DiseaseID__c":"GARD:0008155","id":8155,"encodedName":"4-hydroxyphenylacetic-aciduria","IsDeleted":false,"Disease_Name_Full__c":"4-hydroxyphenylacetic aciduria","Xref_IDs__c":"C1848680; C535315; HP:0003607; MEDGEN:376417; MONDO:0022330","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"4-hydroxyphenylacetic aciduria","GARD_Synonym__c":"elevated urine 4-hydroxyphenylacetic acid level","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare metabolic condition is defined by having higher than normal levels of a substance called 4-hydroxyphenylacetic acid in the urine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0022330","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare metabolic condition is defined by having higher than normal levels of a substance called 4-hydroxyphenylacetic acid in the urine.","GARD_Synonym__c":"elevated urine 4-hydroxyphenylacetic acid level","Name":"4-hydroxyphenylacetic aciduria","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376417","Source__c":"C1848680","Xref__c":"MEDGEN:376417"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848680","Source__c":"C1848680","Xref__c":"C1848680"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535315","Source__c":"MONDO:0022330","Xref__c":"C535315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022330","Source__c":"GARD:0008155","Xref__c":"MONDO:0022330"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003607","Source__c":"C1848680","Xref__c":"HP:0003607"}],"tags":{},"synonyms":["elevated urine 4-hydroxyphenylacetic acid level"]}