SE-ATLAS

Syndromic renal or urinary tract malformation Methylcobalamin deficiency type cblG Oculocerebrorenal syndrome of Lowe Sebastian syndrome HANAC syndrome Familial steroid-resistant nephrotic syndrome with sensorineural deafness Osteofibrous dysplasia X-linked Alport syndrome Mixed connective tissue disease AApoAII amyloidosis Familial hyperaldosteronism type I Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Hypocomplementemic urticarial vasculitis Ciliopathies with major skeletal involvement AFib amyloidosis Smith-Lemli-Opitz syndrome Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Dense deposit disease Spondylodysplastic dysplasia Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Mesomelic and rhizo-mesomelic dysplasia Tyrosinemia type 2 Transient pseudohypoaldosteronism Secondary vasculitis Pseudohypoaldosteronism type 2B Thrombotic microangiopathy Vasculitis due to ADA2 deficiency Primary bone dysplasia with multiple joint dislocations Idiopathic hypercalciuria Primary bone dysplasia with increased bone density Reactive arthritis Congenital nephrotic syndrome, Finnish type Hereditary pheochromocytoma-paraganglioma Shiga toxin-associated hemolytic uremic syndrome Carnitine palmitoyltransferase II deficiency Renal pseudohypoaldosteronism type 1 Genetic cystic renal disease 2p21 microdeletion syndrome Primary bone dysplasia with disorganized development of skeletal components Systemic primary carnitine deficiency Congenital bilateral megacalycosis Primary osteolysis Rare hyperlipidemia Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Dominant hypophosphatemia with nephrolithiasis or osteoporosis Tyrosinemia type 3 Infantile nephronophthisis Acquired monoclonal Ig light chain-associated Fanconi syndrome Renal tubular dysgenesis May-Hegglin thrombocytopenia Bartter syndrome type 3 Apparent mineralocorticoid excess Idiopathic steroid-sensitive nephrotic syndrome Brachydactyly-arterial hypertension syndrome Autosomal recessive polycystic kidney disease Polyarticular juvenile idiopathic arthritis Cystinuria type B Rare systemic or rheumatological disease of childhood Bartter syndrome type 4 Psoriasis-related juvenile idiopathic arthritis Disorder of fatty acid oxidation and ketogenesis X-linked Alport syndrome-diffuse leiomyomatosis Alport syndrome Pseudohypoaldosteronism type 2E Mitochondrial trifunctional protein deficiency Pseudohypoaldosteronism type 1 Adult familial nephronophthisis-spastic quadriparesia syndrome Cystinosis Renal hypoplasia Posterior urethral valve Tubulointerstitial nephritis and uveitis syndrome Liddle syndrome Disorder of purine or pyrimidine metabolism Congenital primary megaureter, obstructed form Nail-patella-like renal disease Senior-Loken syndrome Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Bartter syndrome Fibronectin glomerulopathy Ochoa syndrome Carnitine-acylcarnitine translocase deficiency Megacystis-microcolon-intestinal hypoperistalsis syndrome Multiple epiphyseal dysplasia and pseudoachondroplasia Bartter syndrome with hypocalcemia Slender bone dysplasia Joubert syndrome with oculorenal defect Rare infectious disease LAMB2-related infantile-onset nephrotic syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Von Hippel-Lindau disease Pseudohypoparathyroidism type 1B Atypical hemolytic uremic syndrome with anti-factor H antibodies Prune belly syndrome Systemic-onset juvenile idiopathic arthritis Distal renal tubular acidosis with anemia Cystinuria type A Renal dysplasia Dent disease type 2 Renal coloboma syndrome Pauci-immune glomerulonephritis Adrenocortical carcinoma Renal hypoplasia, unilateral Atypical hemolytic uremic syndrome Lipoprotein glomerulopathy Tuberous sclerosis complex Pediatric systemic lupus erythematosus Primary hyperoxaluria Congenital primary megaureter, nonrefluxing and unobstructed form Unilateral multicystic dysplastic kidney Renal hypoplasia, bilateral Bilateral multicystic dysplastic kidney Primary membranoproliferative glomerulonephritis Senior-Boichis syndrome Collagen type III glomerulopathy Idiopathic nephrotic syndrome Sporadic pheochromocytoma/secreting paraganglioma Genetic steroid-resistant nephrotic syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome RHYNS syndrome Phenylketonuria Multiple paragangliomas associated with polycythemia Oligomeganephronia Cystinuria Nephrogenic diabetes insipidus Osteopetrosis with renal tubular acidosis Pseudoxanthoma elasticum Multiple metaphyseal dysplasia Acromelic dysplasia Campomelic dysplasia and related disorders Chondrodysplasia punctata Primary bone dysplasia with decreased bone density Cleidocranial dysplasia and isolated cranial ossification defect Congenital and infantile nephrotic syndrome Lethal chondrodysplasia Primary membranous glomerulonephritis Medullary sponge kidney Rare pediatric vasculitis Pseudohypoparathyroidism Disorder of urea cycle metabolism and ammonia detoxification Frasier syndrome Galactosemia Glycogen storage disease Gitelman syndrome Renal or urinary tract malformation Non-syndromic renal or urinary tract malformation ALys amyloidosis AApoAI amyloidosis Immune-mediated thrombotic thrombocytopenic purpura Late-onset nephronophthisis Xanthinuria type I Rare renal tubular disease Oligoarticular juvenile idiopathic arthritis Xanthinuria type II Nephrogenic syndrome of inappropriate antidiuresis Cystic fibrosis Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C Congenital primary megaureter Pierson syndrome Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Denys-Drash syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Rare inborn errors of metabolism Nail-patella syndrome Peroxisomal disease Thrombotic thrombocytopenic purpura Hypotonia-cystinuria syndrome Action myoclonus-renal failure syndrome Tyrosinemia type 1 Disorder of carnitine cycle and carnitine transport Autosomal recessive distal renal tubular acidosis without deafness Autosomal recessive distal renal tubular acidosis with deafness Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Rare genetic cause of hypertension NPHP3-related Meckel-like syndrome Pontocerebellar hypoplasia type 2 Urachal cyst Methylmalonic acidemia without homocystinuria Renal dysplasia, bilateral Otopalatodigital syndrome spectrum disorder Anti-neutrophil cytoplasmic antibody-associated vasculitis Primary bone dysplasia with micromelia Wilson disease Short stature-advanced bone age-early-onset osteoarthritis syndrome Atresia of urethra Dent disease Nephronophthisis Hemolytic uremic syndrome with DGKE deficiency Albright hereditary osteodystrophy Primary hypomagnesemia with secondary hypocalcemia Pseudohypoaldosteronism type 2 Acromesomelic dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Primary bone dysplasia with defective bone mineralization Lysosomal disease MYH9-related disease Sporadic idiopathic steroid-resistant nephrotic syndrome Multicystic dysplastic kidney Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Anti-glomerular basement membrane disease Glutaric acidemia type 3 Hereditary renal hypouricemia Hereditary xanthinuria Congenital thrombotic thrombocytopenic purpura Juvenile nephronophthisis Familial hyperthyroidism due to mutations in TSH receptor Autosomal dominant distal renal tubular acidosis Overlapping connective tissue disease Congenital megacalycosis Hypotonia-cystinuria type 1 syndrome Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Fechtner syndrome Unclassified vasculitis Adenine phosphoribosyltransferase deficiency Pseudohypoaldosteronism type 2D Familial gestational hyperthyroidism Unilateral congenital megacalycosis Maple syrup urine disease Immunotactoid or fibrillary glomerulopathy Arthrite juvénile idiopathique indéterminée Dysplasie réno-hépato-pancréatique Acidose tubulaire rénale proximale autosomique dominante Dysgénésie tubulaire rénale d'origine médicamenteuse Agénésie rénale bilatérale Sténose congénitale de l'artère rénale Dysplasie rénale unilatérale Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue Acidose tubulaire rénale distale Déficit en glutaryl-CoA déshydrogénase Acidose tubulaire rénale proximale Maladie systémique rare de l'enfant Pseudohypoparathyroïdie type 2 Hyperoxalurie primitive type 2 Agénésie rénale unilatérale Acidémie méthylmalonique avec homocystinurie Acidémie isovalérique Acidémie propionique Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne Syndrome mégavessie-méga-uretères Méga-uretère primitif de l'adulte Méga-uretère primitif congénital avec reflux Syndrome de Galloway-Mowat Néphropathie progressive avec hypertension autosomique dominante Pseudohypoparathyroïdie type 1A Arthrite juvénile idiopathique Syndrome hypertrophique de Kosaki Déficit en carnitine palmitoyltransférase 1A Hypomagnésémie isolée autosomique dominante type Glaudemans Glomérulonéphrite membranoproliférative médiée par les immunoglobulines Glomérulopathie à dépôts de C3 Glomérulonéphrite à dépôts de C3 Duplication de l'urètre Dysplasie spondylo-métaphysaire Syndrome de Fanconi primitif rénotubulaire Syndrome de diabète néonatal-hypothyroïdie congénitale-glaucome congénital-fibrose hépatique-polykystose rénale Rhombencéphalite de Bickerstaff Dysplasie immuno-osseuse de Schimke Hypomagnésémie primaire avec hypercalciurie et néphrocalcinose sans atteinte oculaire sévère Syndrome de pneumopathie interstitielle-syndrome néphrotique-épidermolyse bulleuse Pseudohypoaldostéronisme type 1 généralisé Pseudohypoaldostéronisme type 2A Pseudohypoaldostéronisme type 2C Néphropathie glomérulaire Syndrome WAGR Hyperoxalurie primitive type 1 Hyperoxalurie primitive type 3 Acidose tubulaire rénale proximale autosomique récessive Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADN mitochondrial Hypertension artérielle de cause rare Maladie de Dent type 1 Syndrome d'hypotonie-cystinurie atypique Maladie rénale rare Arthrite juvénile idiopathique associée aux enthésopathies Acidose tubulaire rénale primitive Amylose héréditaire avec atteinte rénale primaire Intolérance au fructose héréditaire Dermatomyosite juvénile Dysplasie osseuse primaire Dysplasie osseuse primaire avec ossification progressive de la peau, des muscles squelettiques, fascias, tendons et ligaments Syndrome d'Epstein