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- Rare renal disease ORPHA:93626
- Renal or urinary tract malformation ORPHA:93545
- Non-syndromic renal or urinary tract malformation ORPHA:93546
- Multicystic dysplastic kidney ORPHA:1851
- Unilateral multicystic dysplastic kidney ORPHA:97363
- Bilateral multicystic dysplastic kidney ORPHA:97364
- Exstrophy-epispadias complex ORPHA:322
- Renal tubular dysgenesis ORPHA:3033
- Renal tubular dysgenesis due to twin-twin transfusion ORPHA:97367
- Drug-related renal tubular dysgenesis ORPHA:97368
- Renal tubular dysgenesis of genetic origin ORPHA:97369
- Medullary sponge kidney ORPHA:1309
- Oligomeganephronia ORPHA:2260
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Renal hypoplasia ORPHA:93101
- Renal dysplasia ORPHA:93108
- Congenital megacalycosis ORPHA:93109
- Megacystis-megaureter syndrome ORPHA:238637
- Renal agenesis ORPHA:411709
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Atresia of urethra ORPHA:105
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Congenital urachal anomaly ORPHA:435743
- Urachal cyst ORPHA:488
- Patent urachus ORPHA:431341
- Urachal sinus ORPHA:431344
- Urachal diverticulum ORPHA:431347
- Familial vesicoureteral reflux ORPHA:289365
- Non-syndromic supernumerary kidneys ORPHA:652528
- Syndromic renal or urinary tract malformation ORPHA:93547
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- BOR syndrome ORPHA:107
- Cat-eye syndrome ORPHA:195
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Meckel syndrome ORPHA:564
- Ellis Van Creveld syndrome ORPHA:289
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- VACTERL/VATER association ORPHA:887
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Caudal regression syndrome ORPHA:3027
- Fraser syndrome ORPHA:2052
- Hajdu-Cheney syndrome ORPHA:955
- Acrorenal syndrome ORPHA:971
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- AREDYLD syndrome ORPHA:1133
- Axial mesodermal dysplasia spectrum ORPHA:1834
- EEC syndrome ORPHA:1896
- Faciocardiorenal syndrome ORPHA:1973
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- Pallister-Hall syndrome ORPHA:672
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Renal coloboma syndrome ORPHA:1475
- Neurofaciodigitorenal syndrome ORPHA:2673
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Urofacial syndrome ORPHA:2704
- Orofaciodigital syndrome type 1 ORPHA:2750
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Schinzel-Giedion syndrome ORPHA:798
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Thyrocerebrorenal syndrome ORPHA:3327
- Ulbright-Hodes syndrome ORPHA:3404
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- Smith-Lemli-Opitz syndrome ORPHA:818
- Renal nutcracker syndrome ORPHA:71273
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- BNAR syndrome ORPHA:217266
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Cystic hamartoma of lung and kidney ORPHA:2111
- Radio-renal syndrome ORPHA:3015
- Caudal duplication ORPHA:1756
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- 8q24.3 microdeletion syndrome ORPHA:508488
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Glomerular disease ORPHA:93548
- Immunoglobulin A nephropathy ORPHA:34145
- Lipoprotein glomerulopathy ORPHA:329481
- Idiopathic non-lupus full-house nephropathy ORPHA:567544
- Systemic disease with glomerulopathy as a major feature ORPHA:567554
- Genetic systemic disease with glomerulopathy as a major feature ORPHA:567556
- Muckle-Wells syndrome ORPHA:575
- Hereditary amyloidosis with primary renal involvement ORPHA:85450
- AApoAI amyloidosis ORPHA:93560
- ALys amyloidosis ORPHA:93561
- AFib amyloidosis ORPHA:93562
- AApoAII amyloidosis ORPHA:238269
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Hypocomplementemic urticarial vasculitis ORPHA:36412
- Familial Mediterranean fever ORPHA:342
- Non-genetic systemic disease with glomerulopathy as a major feature ORPHA:567558
- Juvenile polymyositis ORPHA:93568
- Sarcoidosis ORPHA:797
- Polymyositis ORPHA:732
- Systemic sclerosis ORPHA:90291
- Diffuse cutaneous systemic sclerosis ORPHA:220393
- Limited cutaneous systemic sclerosis ORPHA:220402
- Limited systemic sclerosis ORPHA:220407
- AApoAIV amyloidosis ORPHA:439232
- Systemic vasculitis associated with glomerulopathy ORPHA:567560
- Systemic lupus erythematosus ORPHA:536
- Microscopic polyangiitis ORPHA:727
- Polyarteritis nodosa ORPHA:767
- Primary polyarteritis nodosa ORPHA:439737
- Cutaneous polyarteritis nodosa ORPHA:439729
- Single-organ polyarteritis nodosa ORPHA:439755
- Systemic polyarteritis nodosa ORPHA:439762
- Secondary polyarteritis nodosa ORPHA:439746
- Granulomatosis with polyangiitis ORPHA:900
- Anti-glomerular basement membrane disease ORPHA:375
- Immunoglobulin A vasculitis ORPHA:761
- Pediatric systemic lupus erythematosus ORPHA:93552
- Eosinophilic granulomatosis with polyangiitis ORPHA:183
- Relapsing polychondritis ORPHA:728
- Giant cell arteritis ORPHA:397
- Cryoglobulinemic vasculitis ORPHA:91138
- Buerger disease ORPHA:36258
- Takayasu arteritis ORPHA:3287
- Pauci-immune glomerulonephritis ORPHA:93126
- AL amyloidosis ORPHA:85443
- Juvenile dermatomyositis ORPHA:93672
- Behçet disease ORPHA:117
- Mixed connective tissue disease ORPHA:809
- AH amyloidosis ORPHA:442582
- Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861
- Heavy chain deposition disease ORPHA:93556
- Light and heavy chain deposition disease ORPHA:93557
- Light chain deposition disease ORPHA:93558
- Dermatomyositis ORPHA:221
- Amyopathic dermatomyositis ORPHA:645617
- Adermatopathic dermatomyositis ORPHA:645626
- Classical dermatomyositis ORPHA:645613
- AA amyloidosis ORPHA:85445
- IgG4-related kidney disease ORPHA:449395
- Adult-onset Still disease ORPHA:829
- Reynolds syndrome ORPHA:779
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Nephrotic syndrome without extrarenal manifestations ORPHA:567564
- Idiopathic nephrotic syndrome ORPHA:357502
- Idiopathic steroid-resistant nephrotic syndrome ORPHA:567548
- Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy ORPHA:567552
- Idiopathic multidrug-resistant nephrotic syndrome ORPHA:567550
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance ORPHA:567546
- Idiopathic steroid-sensitive nephrotic syndrome ORPHA:69061
- Genetic nephrotic syndrome ORPHA:564127
- Disorder with multisystemic involvement and glomerulopathy ORPHA:567562
- Nail-patella syndrome ORPHA:2614
- Schimke immuno-osseous dysplasia ORPHA:1830
- Galloway-Mowat syndrome ORPHA:2065
- Nail-patella-like renal disease ORPHA:2613
- Pierson syndrome ORPHA:2670
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization ORPHA:69063
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Action myoclonus-renal failure syndrome ORPHA:163696
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Collagen-related glomerular basement membrane disease ORPHA:544590
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- HANAC syndrome ORPHA:73229
- Fibronectin glomerulopathy ORPHA:84090
- Collagen type III glomerulopathy ORPHA:84087
- Immunotactoid or fibrillary glomerulopathy ORPHA:91137
- Primary membranoproliferative glomerulonephritis ORPHA:54370
- Immunoglobulin-mediated membranoproliferative glomerulonephritis ORPHA:329903
- C3 glomerulopathy ORPHA:329918
- Primary membranous glomerulonephritis ORPHA:97560
- Thrombotic microangiopathy ORPHA:93573
- Thrombotic thrombocytopenic purpura ORPHA:54057
- Congenital thrombotic thrombocytopenic purpura ORPHA:93583
- Immune-mediated thrombotic thrombocytopenic purpura ORPHA:93585
- Pediatric systemic lupus erythematosus ORPHA:93552
- Systemic lupus erythematosus ORPHA:536
- Hemolytic uremic syndrome ORPHA:544458
- Infection-related hemolytic uremic syndrome ORPHA:544482
- Shiga toxin-associated hemolytic uremic syndrome ORPHA:90038
- Streptococcus pneumoniae-associated hemolytic uremic syndrome ORPHA:544493
- Atypical hemolytic uremic syndrome ORPHA:2134
- Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
- Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
- Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- De novo thrombotic microangiopathy after kidney transplantation ORPHA:244275
- Genetic cystic renal disease ORPHA:93587
- Cranioectodermal dysplasia ORPHA:1515
- Autosomal recessive polycystic kidney disease ORPHA:731
- Von Hippel-Lindau disease ORPHA:892
- Meckel syndrome ORPHA:564
- Tuberous sclerosis complex ORPHA:805
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome ORPHA:79118
- Saldino-Mainzer syndrome ORPHA:140969
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Joubert syndrome with renal defect ORPHA:220497
- Karyomegalic interstitial nephritis ORPHA:401996
- Ventriculomegaly-cystic kidney disease ORPHA:443988
- Joubert syndrome with oculorenal defect ORPHA:2318
- RHYNS syndrome ORPHA:140976
- Senior-Loken syndrome ORPHA:3156
- Senior-Boichis syndrome ORPHA:84081
- Ellis Van Creveld syndrome ORPHA:289
- Autosomal dominant polycystic kidney disease ORPHA:730
- Autosomal dominant tubulointerstitial kidney disease ORPHA:34149
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
- UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
- REN-related autosomal dominant tubulointerstitial kidney disease ORPHA:217330
- Nephronophthisis ORPHA:655
- Late-onset nephronophthisis ORPHA:93589
- Infantile nephronophthisis ORPHA:93591
- Juvenile nephronophthisis ORPHA:93592
- Bardet-Biedl syndrome ORPHA:110
- Nephropathy secondary to a storage or other metabolic disease ORPHA:93593
- Fabry disease ORPHA:324
- Wilson disease ORPHA:905
- Alpha-1-antitrypsin deficiency ORPHA:60
- Zellweger syndrome ORPHA:912
- Galactosemia ORPHA:352
- Galactokinase deficiency ORPHA:79237
- Galactose epimerase deficiency ORPHA:79238
- Erythrocyte galactose epimerase deficiency ORPHA:308473
- Generalized galactose epimerase deficiency ORPHA:308487
- Classic galactosemia ORPHA:79239
- Galactose mutarotase deficiency ORPHA:570422
- Hartnup disease ORPHA:2116
- Hereditary fructose intolerance ORPHA:469
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Hereditary xanthinuria ORPHA:3467
- Adenine phosphoribosyltransferase deficiency ORPHA:976
- LCAT deficiency ORPHA:650
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Enamel-renal syndrome ORPHA:1031
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Tyrosinemia type 1 ORPHA:882
- Fanconi-Bickel syndrome ORPHA:2088
- Primary hyperoxaluria ORPHA:416
- Primary hyperoxaluria type 1 ORPHA:93598
- Primary hyperoxaluria type 2 ORPHA:93599
- Primary hyperoxaluria type 3 ORPHA:93600
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Familial renal glucosuria ORPHA:69076
- Sialidosis type 2 ORPHA:87876
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- Autosomal recessive infantile hypercalcemia ORPHA:300547
- Congenital disorder of glycosylation with nephropathy as a major feature ORPHA:371207
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Rare renal tubular disease ORPHA:93603
- Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
- Oncogenic osteomalacia ORPHA:352540
- Alström syndrome ORPHA:64
- Acquired monoclonal Ig light chain-associated Fanconi syndrome ORPHA:91136
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Cystinuria ORPHA:214
- Bartter syndrome ORPHA:112
- Bartter syndrome type 4 ORPHA:89938
- Bartter syndrome type 3 ORPHA:93605
- Bartter syndrome type 5 ORPHA:570371
- Bartter syndrome type 1 ORPHA:620217
- Bartter syndrome type 2 ORPHA:620220
- Gitelman syndrome ORPHA:358
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome ORPHA:3145
- Idiopathic hypercalciuria ORPHA:2197
- Arginine vasopressin resistance ORPHA:223
- Primary Fanconi renotubular syndrome ORPHA:3337
- Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528
- Tubulointerstitial nephritis and uveitis syndrome ORPHA:91500
- Nephrogenic syndrome of inappropriate antidiuresis ORPHA:93606
- Hereditary renal hypouricemia ORPHA:94088
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- EAST syndrome ORPHA:199343
- Hypotonia-cystinuria type 1 syndrome ORPHA:238517
- Hypotonia-cystinuria syndrome ORPHA:163690
- 2p21 microdeletion syndrome ORPHA:163693
- Atypical hypotonia-cystinuria syndrome ORPHA:238523
- Primary renal tubular acidosis ORPHA:314822
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Distal renal tubular acidosis ORPHA:18
- Autosomal dominant distal renal tubular acidosis ORPHA:93608
- Distal renal tubular acidosis with anemia ORPHA:93610
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Proximal renal tubular acidosis ORPHA:47159
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
- Pseudohypoaldosteronism ORPHA:444916
- Pseudohypoaldosteronism type 2 ORPHA:757
- Pseudohypoaldosteronism type 2A ORPHA:88938
- Pseudohypoaldosteronism type 2B ORPHA:88939
- Pseudohypoaldosteronism type 2C ORPHA:88940
- Pseudohypoaldosteronism type 2D ORPHA:300525
- Pseudohypoaldosteronism type 2E ORPHA:300530
- Pseudohypoaldosteronism type 1 ORPHA:756
- Renal pseudohypoaldosteronism type 1 ORPHA:171871
- Generalized pseudohypoaldosteronism type 1 ORPHA:171876
- Transient pseudohypoaldosteronism ORPHA:93164
- Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924
- Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement ORPHA:31043
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Jeune syndrome ORPHA:474
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome ORPHA:528105
- Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
- Hematological disorder with renal involvement ORPHA:93614
- Rare cause of hypertension ORPHA:93618
- Isolated adrenal medullary hyperplasia ORPHA:688649
- Congenital renal artery stenosis ORPHA:97598
- Rare genetic cause of hypertension ORPHA:156629
- Williams syndrome ORPHA:904
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Liddle syndrome ORPHA:526
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424
- Pseudohypoaldosteronism type 2 ORPHA:757
- Pseudohypoaldosteronism type 2A ORPHA:88938
- Pseudohypoaldosteronism type 2B ORPHA:88939
- Pseudohypoaldosteronism type 2C ORPHA:88940
- Pseudohypoaldosteronism type 2D ORPHA:300525
- Pseudohypoaldosteronism type 2E ORPHA:300530
- Pseudoxanthoma elasticum ORPHA:758
- Apparent mineralocorticoid excess ORPHA:320
- Autosomal dominant progressive nephropathy with hypertension ORPHA:88659
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ORPHA:88660
- Familial hyperaldosteronism ORPHA:235936
- Rare renal tumor ORPHA:93619
- Benign metanephric tumor ORPHA:464359
- Congenital mesoblastic nephroma ORPHA:2665
- Nephroblastoma ORPHA:654
- Multiloculated renal cyst ORPHA:97366
- Renal cell carcinoma ORPHA:217071
- Collecting duct carcinoma ORPHA:247203
- Clear cell renal carcinoma ORPHA:319276
- Multilocular cystic renal neoplasm of low malignant potential ORPHA:319287
- Clear cell papillary renal cell carcinoma ORPHA:404511
- Papillary renal cell carcinoma ORPHA:319298
- Chromophobe renal cell carcinoma ORPHA:319303
- MiT family translocation renal cell carcinoma ORPHA:319308
- Renal medullary carcinoma ORPHA:319319
- Mucinous tubular and spindle cell renal carcinoma ORPHA:319322
- Tubulocystic renal cell carcinoma ORPHA:319325
- Acquired cystic disease-associated renal cell carcinoma ORPHA:404514
- Cystic hamartoma of lung and kidney ORPHA:2111
- Clear cell sarcoma of kidney ORPHA:457246
- Inherited renal cancer-predisposing syndrome ORPHA:319328
- Hereditary papillary renal cell carcinoma ORPHA:47044
- Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations ORPHA:319462
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Hereditary clear cell renal cell carcinoma ORPHA:422526
- Von Hippel-Lindau disease ORPHA:892
- WAGR syndrome ORPHA:893
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Tuberous sclerosis complex ORPHA:805
- Perlman syndrome ORPHA:2849
- Birt-Hogg-Dubé syndrome ORPHA:122
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Complication in hemodialysis ORPHA:268316
- Neonatal renal venous thrombosis ORPHA:664912