{"Name":"Familial juvenile hyperuricemic nephropathy type 1","DiseaseID__c":"GARD:0010679","id":10679,"encodedName":"familial-juvenile-hyperuricemic-nephropathy-type-1","IsDeleted":false,"Disease_Name_Full__c":"Familial juvenile hyperuricemic nephropathy type 1","Xref_IDs__c":"445503007; C123172; C4551496; C563693; DOID:0061122; MEDGEN:1645893; MONDO:0008073; OMIM:162000; ORPHA:88950","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008073","Disease_Description__c":"A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.","GARD_Name__c":"Familial juvenile hyperuricemic nephropathy type 1","GARD_Synonym__c":"adtkd-umod; adtkd1; autosomal dominant medullary cystic kidney disease type 2; autosomal dominant medullary cystic kidney disease with hyperuricemia; autosomal dominant tubulo-interstitial kidney disease; autosomal dominant tubulointerstitial kidney disease - umod; autosomal dominant tubulointerstitial kidney disease due to mutations in umod; familial gout nephropathy; familial gout with renal failure; familial juvenile gout; familial juvenile gouty nephropathy; familial juvenile hyperuricemic nephropathy caused by mutation in umod; fjhn type 1; glomerulocystic kidney disease with hyperuricemia and isosthenuria; hnfj1; hyperuricemic nephropathy, familial juvenile, 1; hyperuricemic nephropathy, familial juvenile, type 1; mckd2; medullary cystic kidney disease 2; medullary cystic kidney disease type 2; medullary cystic kidney disease type ii; precocious adolescent gout; tubulointerstitial kidney disease, autosomal dominant, 1; umod familial juvenile hyperuricemic nephropathy; umod-associated familial juvenile hyperuricemic nephropathy; umod-associated fjhn; umod-associated kidney disease; umod-related adtkd; umod-related autosomal dominant tubulointerstitial kidney disease; umod-related kidney disease; uromodulin storage disease; uromodulin-associated kidney disease","Curated_Disease_Description_Source__c":"GARD:0010679","Curated_Disease_Description__c":"Autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is part of a group of disorders (collectively called autosomal dominant tubulointerstitial kidney disease or ADTKD) that cause a slow loss of kidney function. In people with ADTKD-UMOD, the signs and symptoms of kidney disease often begin in adolescence or early adulthood. Over time, the kidneys become less able to filter fluids and waste products from the body. People with ADTKD-UMOD eventually develop kidney failure, which requires either dialysis to remove waste from the blood or a kidney transplant. The age at which people with ADTKD-UMOD develop kidney failure can vary, though the average age is approximately 45 years.  People with ADTKD-UMOD typically develop high levels of a waste product called uric acid in their blood. Normally, the kidneys transfer uric acid from the blood into urine, which then removes it from the body. People with ADTKD-UMOD are unable to remove uric acid from the blood effectively. In about 50 percent of people with ADTKD-UMOD, uric acid builds up in the joints and causes a form of arthritis called gout, typically in late adolescence or early adulthood. Gout is characterized by a sudden onset of severe joint pain and redness, often starting in the big toe. Untreated episodes of gout typically worsen over time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:88950","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008073","ORPHANET_ID__c":"ORPHA:88950","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad renal tubulointersticial autosómica dominante asociada a umod","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad renal tubulointersticial autosómica dominante asociada a umod","Spanish_GARD_Synonym__c":"adtkd asociada a umod; adtkd-umod; enfermedad renal asociada a uromodulina; enfermedad renal quística medular tipo 2; enfermedad renal tubulointersticial autosómica dominante por una mutación en el gen umod; enfermedad renal umod; mckd2; nefropatía hiperuricémica juvenil familiar tipo 1; uakd","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":"Autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is part of a group of disorders (collectively called autosomal dominant tubulointerstitial kidney disease or ADTKD) that cause a slow loss of kidney function. In people with ADTKD-UMOD, the signs and symptoms of kidney disease often begin in adolescence or early adulthood. Over time, the kidneys become less able to filter fluids and waste products from the body. People with ADTKD-UMOD eventually develop kidney failure, which requires either dialysis to remove waste from the blood or a kidney transplant. The age at which people with ADTKD-UMOD develop kidney failure can vary, though the average age is approximately 45 years.  People with ADTKD-UMOD typically develop high levels of a waste product called uric acid in their blood. Normally, the kidneys transfer uric acid from the blood into urine, which then removes it from the body. People with ADTKD-UMOD are unable to remove uric acid from the blood effectively. In about 50 percent of people with ADTKD-UMOD, uric acid builds up in the joints and causes a form of arthritis called gout, typically in late adolescence or early adulthood. Gout is characterized by a sudden onset of severe joint pain and redness, often starting in the big toe. Untreated episodes of gout typically worsen over time.","Curated_Disease_Description_Source__c":"GARD:0010679","GARD_Synonym__c":"adtkd-umod; adtkd1; autosomal dominant medullary cystic kidney disease type 2; autosomal dominant medullary cystic kidney disease with hyperuricemia; autosomal dominant tubulo-interstitial kidney disease; autosomal dominant tubulointerstitial kidney disease - umod; autosomal dominant tubulointerstitial kidney disease due to mutations in umod; familial gout nephropathy; familial gout with renal failure; familial juvenile gout; familial juvenile gouty nephropathy; familial juvenile hyperuricemic nephropathy caused by mutation in umod; fjhn type 1; glomerulocystic kidney disease with hyperuricemia and isosthenuria; hnfj1; hyperuricemic nephropathy, familial juvenile, 1; hyperuricemic nephropathy, familial juvenile, type 1; mckd2; medullary cystic kidney disease 2; medullary cystic kidney disease type 2; medullary cystic kidney disease type ii; precocious adolescent gout; tubulointerstitial kidney disease, autosomal dominant, 1; umod familial juvenile hyperuricemic nephropathy; umod-associated familial juvenile hyperuricemic nephropathy; umod-associated fjhn; umod-associated kidney disease; umod-related adtkd; umod-related autosomal dominant tubulointerstitial kidney disease; umod-related kidney disease; uromodulin storage disease; uromodulin-associated kidney disease","Name":"Familial juvenile hyperuricemic nephropathy type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Rare Kidney Disease Foundation","Website__c":"https://www.rarekidney.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:88950"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:88950"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010679","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1356","Source__c":"Gene Review","Xref__c":"NBK1356"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1645893","Source__c":"C4551496","Xref__c":"MEDGEN:1645893"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551496","Source__c":"C4551496","Xref__c":"C4551496"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563693","Source__c":"MONDO:0008073","Xref__c":"C563693"},{"URL__c":"https://www.orpha.net/en/disease/detail/88950","Source__c":"C4551496; MONDO:0008073","Xref__c":"ORPHA:88950"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123172","Source__c":"MONDO:0008073","Xref__c":"C123172"},{"URL__c":"https://www.omim.org/entry/162000","Source__c":"C4551496; MONDO:0008073; ORPHA:88950","Xref__c":"OMIM:162000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445503007","Source__c":"MONDO:0008073","Xref__c":"445503007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061122","Source__c":"MONDO:0008073","Xref__c":"DOID:0061122"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008073","Source__c":"GARD:0010679","Xref__c":"MONDO:0008073"},{"URL__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod","Source__c":"GARD:0010679","Xref__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=46785007","Source__c":"C4551496","Xref__c":"46785007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UMOD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/umod","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004722","HPO_Synonym__c":"Thickening of the glomerular basement membrane","HPO_Name__c":"Thickened glomerular basement membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003158","HPO_Synonym__c":"Reduced urinary osmolality","HPO_Name__c":"Hyposthenuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012626","HPO_Synonym__c":"Stage 4 chronic kidney disease","HPO_Name__c":"Stage 4 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000092","HPO_Synonym__c":"Renal tubular cell atrophy; Tubular atrophy","HPO_Name__c":"Renal tubular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced differentiation between renal cortex and medulla on diagnostic imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005565","HPO_Synonym__c":"Loss of definition of corticomedullary differentiation","HPO_Name__c":"Reduced renal corticomedullary differentiation","HPO_Feature_Type__c":"Imaging_CT; Imaging_Ultrasound; Imaging_MRI"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple cysts at the border between the renal cortex and medulla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000108","HPO_Synonym__c":"Corticomedullary renal cysts","HPO_Name__c":"Renal corticomedullary cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012213","HPO_Synonym__c":"Decreased GFR; Impaired renal creatinine clearance; Reduced creatinine clearance","HPO_Name__c":"Decreased glomerular filtration rate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004719","HPO_Synonym__c":"Echogenic kidneys; Increased echogenicity of the renal parenchyma","HPO_Name__c":"Hyperechogenic kidneys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of scar tissue within the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000096","HPO_Synonym__c":"Glomerulosclerosis","HPO_Name__c":"Glomerular sclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of nitrogen in the form of urea in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003138","HPO_Synonym__c":"Increased blood urea nitrogen; Increased BUN","HPO_Name__c":"Increased blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012625","HPO_Name__c":"Stage 3 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased rate of urine production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000103","HPO_Synonym__c":"Increased urine output","HPO_Name__c":"Polyuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012624","HPO_Name__c":"Stage 2 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased concentration of urate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011935","HPO_Name__c":"Decreased urinary urate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fluid filled sac in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000107","HPO_Synonym__c":"Kidney cyst","HPO_Name__c":"Renal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032948","HPO_Name__c":"Renal interstitial fibrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012623","HPO_Name__c":"Stage 1 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["adtkd-umod"," adtkd1"," autosomal dominant medullary cystic kidney disease type 2"," autosomal dominant medullary cystic kidney disease with hyperuricemia"," autosomal dominant tubulo-interstitial kidney disease"," autosomal dominant tubulointerstitial kidney disease - umod"," autosomal dominant tubulointerstitial kidney disease due to mutations in umod"," familial gout nephropathy"," familial gout with renal failure"," familial juvenile gout"," familial juvenile gouty nephropathy"," familial juvenile hyperuricemic nephropathy caused by mutation in umod"," fjhn type 1"," glomerulocystic kidney disease with hyperuricemia and isosthenuria"," hnfj1"," hyperuricemic nephropathy, familial juvenile, 1"," hyperuricemic nephropathy, familial juvenile, type 1"," mckd2"," medullary cystic kidney disease 2"," medullary cystic kidney disease type 2"," medullary cystic kidney disease type ii"," precocious adolescent gout"," tubulointerstitial kidney disease, autosomal dominant, 1"," umod familial juvenile hyperuricemic nephropathy"," umod-associated familial juvenile hyperuricemic nephropathy"," umod-associated fjhn"," umod-associated kidney disease"," umod-related adtkd"," umod-related autosomal dominant tubulointerstitial kidney disease"," umod-related kidney disease"," uromodulin storage disease"," uromodulin-associated kidney disease"]}