{"Name":"Renal tubular acidosis","DiseaseID__c":"GARD:0007552","id":7552,"encodedName":"renal-tubular-acidosis","IsDeleted":false,"Disease_Name_Full__c":"Renal tubular acidosis","Xref_IDs__c":"1776003; C0001126; C28129; D000141; DOID:14219; HP:0001947; MEDGEN:90; MONDO:0001909","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0001909","Disease_Description__c":"A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.","GARD_Name__c":"Renal tubular acidosis","GARD_Synonym__c":"accumulation of acid in body due to kidney problem; rta - renal tubular acidosis","Curated_Disease_Description_Source__c":"MONDO:0001909","Curated_Disease_Description__c":"A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:314822","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0001909","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":"A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.","Curated_Disease_Description_Source__c":"MONDO:0001909","GARD_Synonym__c":"accumulation of acid in body due to kidney problem; rta - renal tubular acidosis","Name":"Renal tubular acidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0001126"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90","Source__c":"C0001126","Xref__c":"MEDGEN:90"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1776003","Source__c":"C0001126; MONDO:0001909","Xref__c":"1776003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14219","Source__c":"MONDO:0001909","Xref__c":"DOID:14219"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000141","Source__c":"MONDO:0001909","Xref__c":"D000141"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001126","Source__c":"C0001126","Xref__c":"C0001126"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0001909","Source__c":"GARD:0007552","Xref__c":"MONDO:0001909"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001947","Source__c":"C0001126","Xref__c":"HP:0001947"},{"URL__c":"https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C28129","Source__c":"C0001126","Xref__c":"C28129"}],"tags":{},"synonyms":["accumulation of acid in body due to kidney problem"," rta - renal tubular acidosis"]}