{"Name":"Renal hypoplasia","DiseaseID__c":"GARD:0019172","id":19172,"encodedName":"renal-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Renal hypoplasia","Xref_IDs__c":"32659003; C0266295; DOID:0080204; HP:0000089; MEDGEN:120571; MONDO:0019637; ORPHA:93101","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019637","Disease_Description__c":"A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.","GARD_Name__c":"Renal hypoplasia","GARD_Synonym__c":"congenital hypoplasia of kidney; hypoplastic kidney; hypoplastic kidneys; renal hypoplasia (disease); small kidneys; underdeveloped kidneys","Curated_Disease_Description_Source__c":"ORPHA:93101","Curated_Disease_Description__c":"A congenital renal malformation characterized by abnormally small kidney(s) with normal corticomedullary differentiation and reduced number of nephrons.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:93101","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019637","ORPHANET_ID__c":"ORPHA:93101","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia renal","Spanish_Description_Source__c":"ORPHA:93101","Spanish_Description__c":"Es una malformación renal congénita caracterizada por un(os) riñón(es) anormalmente pequeños (volumen del riñón inferior a dos desviaciones estándar del volumen renal de individuos normales de la misma edad o un volumen renal total inferior a la mitad del valor normal para la edad del paciente) con diferenciación corticomedular normal y un número reducido de nefronas.","Spanish_Disease_Name__c":"hipoplasia renal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 congenital renal malformation characterized by abnormally small kidney(s) with normal corticomedullary differentiation and reduced number of nephrons.","Curated_Disease_Description_Source__c":"ORPHA:93101","GARD_Synonym__c":"congenital hypoplasia of kidney; hypoplastic kidney; hypoplastic kidneys; renal hypoplasia (disease); small kidneys; underdeveloped kidneys","Name":"Renal hypoplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:93101"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266295","Source__c":"C0266295","Xref__c":"C0266295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32659003","Source__c":"C0266295; MONDO:0019637","Xref__c":"32659003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080204","Source__c":"MONDO:0019637","Xref__c":"DOID:0080204"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120571","Source__c":"C0266295","Xref__c":"MEDGEN:120571"},{"URL__c":"https://www.orpha.net/en/disease/detail/93101","Source__c":"C0266295; MONDO:0019637; ORPHA:93101","Xref__c":"ORPHA:93101"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000089","Source__c":"C0266295","Xref__c":"HP:0000089"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019637","Source__c":"GARD:0019172","Xref__c":"MONDO:0019637"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal membrane obstructing the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010481","HPO_Name__c":"Urethral valve","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the renal tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000091","HPO_Synonym__c":"Abnormality of the renal tubule; Morphologic abnormality of the renal tubules","HPO_Name__c":"Abnormal renal tubule morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally large size of glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030162","HPO_Synonym__c":"Glomeruli enlarged","HPO_Name__c":"Glomerulomegaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012210","HPO_Synonym__c":"Abnormal kidney morphology; Abnormally shaped kidney; Kidney malformation; Kidney structure issue; Renal malformation; Structural anomalies of the renal tract; Structural kidney abnormalities; Structural renal anomalies","HPO_Name__c":"Abnormal renal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000125","HPO_Synonym__c":"Sacral kidney","HPO_Name__c":"Pelvic kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cortex of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011035","HPO_Synonym__c":"Abnormality of renal cortex morphology","HPO_Name__c":"Abnormal renal cortex morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:93101","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the count of nephrons per kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005563","HPO_Synonym__c":"Oligonephronia","HPO_Name__c":"Decreased numbers of nephrons","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93101","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital hypoplasia of kidney"," hypoplastic kidney"," hypoplastic kidneys"," renal hypoplasia (disease)"," small kidneys"," underdeveloped kidneys"]}