{"Name":"Renal agenesis","DiseaseID__c":"GARD:0009228","id":9228,"encodedName":"renal-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Renal agenesis","Xref_IDs__c":"204942005; C0542519; C99041; DOID:14766; HP:0000104; MEDGEN:154237; MONDO:0018470; OMIMPS:191830; ORPHA:411709","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018470","Disease_Description__c":"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","GARD_Name__c":"Renal agenesis","GARD_Synonym__c":"absent kidney; absent/small kidney; absent/underdeveloped kidney; congenital absence of the kidney; hereditary renal aplasia; hereditary urogenital adysplasia; missing kidney; renal adysplasia; renal agenesis (disease); renal agenesis/hypoplasia; renal aplasia","Curated_Disease_Description_Source__c":"MONDO:0018470","Curated_Disease_Description__c":"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:411709","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018470","ORPHANET_ID__c":"ORPHA:411709","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia renal","Spanish_Description_Source__c":"ORPHA:411709","Spanish_Description__c":"Es una malformación congénita poco frecuente del tracto renal que se caracteriza por la ausencia total de desarrollo de uno o ambos riñones (agenesia renal uni- o bilateral, respectivamente), acompañada de ausencia de uréter(es).","Spanish_Disease_Name__c":"agenesia 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 rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","Curated_Disease_Description_Source__c":"MONDO:0018470","GARD_Synonym__c":"absent kidney; absent/small kidney; absent/underdeveloped kidney; congenital absence of the kidney; hereditary renal aplasia; hereditary urogenital adysplasia; missing kidney; renal adysplasia; renal agenesis (disease); renal agenesis/hypoplasia; renal aplasia","Name":"Renal agenesis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:411709"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:411709"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14766","Source__c":"MONDO:0018470","Xref__c":"DOID:14766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204942005","Source__c":"C0542519; MONDO:0018470","Xref__c":"204942005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0542519","Source__c":"C0542519","Xref__c":"C0542519"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=154237","Source__c":"C0542519","Xref__c":"MEDGEN:154237"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99041","Source__c":"C0542519; MONDO:0018470","Xref__c":"C99041"},{"URL__c":"https://www.orpha.net/en/disease/detail/411709","Source__c":"C0542519; MONDO:0018470; ORPHA:411709","Xref__c":"ORPHA:411709"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS191830","Source__c":"MONDO:0018470","Xref__c":"OMIMPS:191830"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018470","Source__c":"GARD:0009228","Xref__c":"MONDO:0018470"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000104","Source__c":"C0542519","Xref__c":"HP:0000104"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","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:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplasia (congenital absence) of the vas deferens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012873","HPO_Synonym__c":"Absent deferent duct; Absent ductus deferens; Congenital absence of the vas deferens","HPO_Name__c":"Absent vas deferens","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010476","HPO_Synonym__c":"Absent/small bladder; Absent/underdeveloped bladder","HPO_Name__c":"Aplasia/Hypoplasia of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Frequent (30-79%)","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:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or developmental hypoplasia of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008684","HPO_Synonym__c":"Absent/small uterus; Absent/underdeveloped uterus","HPO_Name__c":"Aplasia/hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","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:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002009","HPO_Name__c":"Potter facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the ureter to undergo development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012300","HPO_Name__c":"Ureteral agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:411709","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:411709","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010958","HPO_Name__c":"Bilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["absent kidney"," absent/small kidney"," absent/underdeveloped kidney"," congenital absence of the kidney"," hereditary renal aplasia"," hereditary urogenital adysplasia"," missing kidney"," renal adysplasia"," renal agenesis (disease)"," renal agenesis/hypoplasia"," renal aplasia"]}