{"Name":"Primary hyperoxaluria type 3","DiseaseID__c":"GARD:0010738","id":10738,"encodedName":"primary-hyperoxaluria-type-3","IsDeleted":false,"Disease_Name_Full__c":"Primary hyperoxaluria type 3","Xref_IDs__c":"734990008; C123214; C3150878; DOID:0111672; MEDGEN:462228; MONDO:0013327; NBK316514; OMIM:613616; ORPHA:93600","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013327","Disease_Description__c":"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.","GARD_Name__c":"Primary hyperoxaluria type 3","GARD_Synonym__c":"hoga1 primary hyperoxaluria; ph iii; primary hyperoxaluria caused by mutation in hoga1; primary hyperoxaluria type iii","Curated_Disease_Description_Source__c":"MONDO:0013327","Curated_Disease_Description__c":"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:93600","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013327","ORPHANET_ID__c":"ORPHA:93600","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperoxaluria primaria tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperoxaluria primaria tipo 3","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93626","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":"Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.","Curated_Disease_Description_Source__c":"MONDO:0013327","GARD_Synonym__c":"hoga1 primary hyperoxaluria; ph iii; primary hyperoxaluria caused by mutation in hoga1; primary hyperoxaluria type iii","Name":"Primary hyperoxaluria type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Oxalosis and Hyperoxaluria Foundation","Website__c":"https://www.ohf.org/"},{"Account_Name__c":"Kanishka Binayak Memorial Foundation","Website__c":"https://www.kanishkabinayaksaha.com/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93600"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93600"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150878"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010738","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK316514","Source__c":"Gene Review","Xref__c":"NBK316514"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111672","Source__c":"MONDO:0013327","Xref__c":"DOID:0111672"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150878","Source__c":"C3150878","Xref__c":"C3150878"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123214","Source__c":"C3150878; MONDO:0013327","Xref__c":"C123214"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462228","Source__c":"C3150878","Xref__c":"MEDGEN:462228"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734990008","Source__c":"C3150878; MONDO:0013327","Xref__c":"734990008"},{"URL__c":"https://www.orpha.net/en/disease/detail/93600","Source__c":"C3150878; MONDO:0013327; ORPHA:93600","Xref__c":"ORPHA:93600"},{"URL__c":"https://www.omim.org/entry/613616","Source__c":"C3150878; MONDO:0013327; ORPHA:93600","Xref__c":"OMIM:613616"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013327","Source__c":"GARD:0010738","Xref__c":"MONDO:0013327"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOGA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hoga1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008672","HPO_Synonym__c":"Ca oxalate kidney stone; Ca oxalate nephrolithiasis; Ca oxalate urolithiasis; Ca2+ oxalate kidney stone; Ca2+ oxalate nephrolithiasis; Ca2+ oxalate urolithiasis; Calcium oxalate kidney stones; Oxalate nephrolithiasis","HPO_Name__c":"Calcium oxalate nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased frequency of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100515","HPO_Synonym__c":"Frequent urination","HPO_Name__c":"Pollakisuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased excretion of oxalates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003159","HPO_Synonym__c":"High urine oxalate levels; Increased level of oxalate in urine","HPO_Name__c":"Hyperoxaluria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal functionality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012211","HPO_Synonym__c":"Abnormal kidney function; Abnormal renal function; Abnormality of renal physiology; Kidney function issue; Renal functional abnormality","HPO_Name__c":"Abnormal renal physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the composition of urine or the levels of its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003110","HPO_Synonym__c":"Pee issues; Urine issues","HPO_Name__c":"Abnormality of urine homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Retinal","Pediatrics"],"Account":["Nephrology","Retinal"]},"synonyms":["hoga1 primary hyperoxaluria"," ph iii"," primary hyperoxaluria caused by mutation in hoga1"," primary hyperoxaluria type iii"]}