Orphanet classification: Rare renal disease (ORPHA:93626)
Disorder type: Category
Subcategories and diseases:
Name: Renal or urinary tract malformation
OrphaCode: 93545
DisorderType: Category
Children: Name: Non-syndromic renal or urinary tract malformation
OrphaCode: 93546
DisorderType: Category
Children: Name: Multicystic dysplastic kidney
OrphaCode: 1851
DisorderType: Morphological anomaly
Children: Name: Unilateral multicystic dysplastic kidney
OrphaCode: 97363
DisorderType: Clinical subtype
Name: Bilateral multicystic dysplastic kidney
OrphaCode: 97364
DisorderType: Clinical subtype
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Renal tubular dysgenesis
OrphaCode: 3033
DisorderType: Malformation syndrome
Children: Name: Renal tubular dysgenesis due to twin-twin transfusion
OrphaCode: 97367
DisorderType: Etiological subtype
Name: Drug-related renal tubular dysgenesis
OrphaCode: 97368
DisorderType: Etiological subtype
Name: Renal tubular dysgenesis of genetic origin
OrphaCode: 97369
DisorderType: Etiological subtype
Name: Medullary sponge kidney
OrphaCode: 1309
DisorderType: Morphological anomaly
Name: Oligomeganephronia
OrphaCode: 2260
DisorderType: Morphological anomaly
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Renal hypoplasia
OrphaCode: 93101
DisorderType: Morphological anomaly
Children: Name: Renal hypoplasia, unilateral
OrphaCode: 97361
DisorderType: Clinical subtype
Name: Renal hypoplasia, bilateral
OrphaCode: 97362
DisorderType: Clinical subtype
Name: Renal dysplasia
OrphaCode: 93108
DisorderType: Morphological anomaly
Children: Name: Renal dysplasia, unilateral
OrphaCode: 93172
DisorderType: Clinical subtype
Name: Renal dysplasia, bilateral
OrphaCode: 93173
DisorderType: Clinical subtype
Name: Congenital megacalycosis
OrphaCode: 93109
DisorderType: Morphological anomaly
Children: Name: Unilateral congenital megacalycosis
OrphaCode: 93176
DisorderType: Clinical subtype
Name: Congenital bilateral megacalycosis
OrphaCode: 93177
DisorderType: Clinical subtype
Name: Megacystis-megaureter syndrome
OrphaCode: 238637
DisorderType: Disease
Name: Renal agenesis
OrphaCode: 411709
DisorderType: Morphological anomaly
Children: Name: Renal agenesis, bilateral
OrphaCode: 1848
DisorderType: Clinical subtype
Name: Renal agenesis, unilateral
OrphaCode: 93100
DisorderType: Clinical subtype
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Congenital urachal anomaly
OrphaCode: 435743
DisorderType: Category
Children: Name: Urachal cyst
OrphaCode: 488
DisorderType: Morphological anomaly
Name: Patent urachus
OrphaCode: 431341
DisorderType: Morphological anomaly
Name: Urachal sinus
OrphaCode: 431344
DisorderType: Morphological anomaly
Name: Urachal diverticulum
OrphaCode: 431347
DisorderType: Morphological anomaly
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Non-syndromic supernumerary kidneys
OrphaCode: 652528
DisorderType: Morphological anomaly
Name: Syndromic renal or urinary tract malformation
OrphaCode: 93547
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Urofacial syndrome
OrphaCode: 2704
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Thyrocerebrorenal syndrome
OrphaCode: 3327
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Renal nutcracker syndrome
OrphaCode: 71273
DisorderType: Disease
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Cystic hamartoma of lung and kidney
OrphaCode: 2111
DisorderType: Disease
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Glomerular disease
OrphaCode: 93548
DisorderType: Category
Children: Name: Immunoglobulin A nephropathy
OrphaCode: 34145
DisorderType: Disease
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Idiopathic non-lupus full-house nephropathy
OrphaCode: 567544
DisorderType: Clinical syndrome
Name: Systemic disease with glomerulopathy as a major feature
OrphaCode: 567554
DisorderType: Category
Children: Name: Genetic systemic disease with glomerulopathy as a major feature
OrphaCode: 567556
DisorderType: Category
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: Hereditary amyloidosis with primary renal involvement
OrphaCode: 85450
DisorderType: Disease
Children: Name: AApoAI amyloidosis
OrphaCode: 93560
DisorderType: Clinical subtype
Name: ALys amyloidosis
OrphaCode: 93561
DisorderType: Clinical subtype
Name: AFib amyloidosis
OrphaCode: 93562
DisorderType: Clinical subtype
Name: AApoAII amyloidosis
OrphaCode: 238269
DisorderType: Clinical subtype
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Hypocomplementemic urticarial vasculitis
OrphaCode: 36412
DisorderType: Disease
Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Non-genetic systemic disease with glomerulopathy as a major feature
OrphaCode: 567558
DisorderType: Category
Children: Name: Juvenile polymyositis
OrphaCode: 93568
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Polymyositis
OrphaCode: 732
DisorderType: Disease
Name: Systemic sclerosis
OrphaCode: 90291
DisorderType: Disease
Children: Name: Diffuse cutaneous systemic sclerosis
OrphaCode: 220393
DisorderType: Clinical subtype
Name: Limited cutaneous systemic sclerosis
OrphaCode: 220402
DisorderType: Clinical subtype
Name: Limited systemic sclerosis
OrphaCode: 220407
DisorderType: Clinical subtype
Name: AApoAIV amyloidosis
OrphaCode: 439232
DisorderType: Disease
Name: Systemic vasculitis associated with glomerulopathy
OrphaCode: 567560
DisorderType: Category
Children: Name: Systemic lupus erythematosus
OrphaCode: 536
DisorderType: Disease
Name: Microscopic polyangiitis
OrphaCode: 727
DisorderType: Disease
Name: Polyarteritis nodosa
OrphaCode: 767
DisorderType: Disease
Children: Name: Primary polyarteritis nodosa
OrphaCode: 439737
DisorderType: Clinical subtype
Children: Name: Cutaneous polyarteritis nodosa
OrphaCode: 439729
DisorderType: Clinical subtype
Name: Single-organ polyarteritis nodosa
OrphaCode: 439755
DisorderType: Clinical subtype
Name: Systemic polyarteritis nodosa
OrphaCode: 439762
DisorderType: Clinical subtype
Name: Secondary polyarteritis nodosa
OrphaCode: 439746
DisorderType: Clinical subtype
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: Anti-glomerular basement membrane disease
OrphaCode: 375
DisorderType: Disease
Name: Immunoglobulin A vasculitis
OrphaCode: 761
DisorderType: Disease
Name: Pediatric systemic lupus erythematosus
OrphaCode: 93552
DisorderType: Disease
Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: Relapsing polychondritis
OrphaCode: 728
DisorderType: Disease
Name: Giant cell arteritis
OrphaCode: 397
DisorderType: Disease
Name: Cryoglobulinemic vasculitis
OrphaCode: 91138
DisorderType: Disease
Children: Name: Mixed cryoglobulinemia type II
OrphaCode: 93554
DisorderType: Etiological subtype
Name: Mixed cryoglobulinemia type III
OrphaCode: 93555
DisorderType: Etiological subtype
Name: Buerger disease
OrphaCode: 36258
DisorderType: Disease
Name: Takayasu arteritis
OrphaCode: 3287
DisorderType: Disease
Name: Pauci-immune glomerulonephritis
OrphaCode: 93126
DisorderType: Disease
Children: Name: Pauci-immune glomerulonephritis with ANCA
OrphaCode: 97563
DisorderType: Clinical subtype
Name: Pauci-immune glomerulonephritis without ANCA
OrphaCode: 97564
DisorderType: Clinical subtype
Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Children: Name: Primary systemic amyloidosis
OrphaCode: 314701
DisorderType: Clinical subtype
Name: Primary localized amyloidosis
OrphaCode: 314709
DisorderType: Clinical subtype
Name: Juvenile dermatomyositis
OrphaCode: 93672
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Mixed connective tissue disease
OrphaCode: 809
DisorderType: Disease
Name: AH amyloidosis
OrphaCode: 442582
DisorderType: Disease
Name: Non-amyloid monoclonal immunoglobulin deposition disease
OrphaCode: 86861
DisorderType: Disease
Children: Name: Heavy chain deposition disease
OrphaCode: 93556
DisorderType: Clinical subtype
Name: Light and heavy chain deposition disease
OrphaCode: 93557
DisorderType: Clinical subtype
Name: Light chain deposition disease
OrphaCode: 93558
DisorderType: Clinical subtype
Name: Dermatomyositis
OrphaCode: 221
DisorderType: Disease
Children: Name: Amyopathic dermatomyositis
OrphaCode: 645617
DisorderType: Clinical subtype
Name: Adermatopathic dermatomyositis
OrphaCode: 645626
DisorderType: Clinical subtype
Name: Classical dermatomyositis
OrphaCode: 645613
DisorderType: Clinical subtype
Name: AA amyloidosis
OrphaCode: 85445
DisorderType: Disease
Name: IgG4-related kidney disease
OrphaCode: 449395
DisorderType: Clinical subtype
Name: Adult-onset Still disease
OrphaCode: 829
DisorderType: Disease
Name: Reynolds syndrome
OrphaCode: 779
DisorderType: Disease
Name: Nephrotic syndrome without extrarenal manifestations
OrphaCode: 567564
DisorderType: Category
Children: Name: Idiopathic nephrotic syndrome
OrphaCode: 357502
DisorderType: Clinical group
Children: Name: Idiopathic steroid-resistant nephrotic syndrome
OrphaCode: 567548
DisorderType: Clinical syndrome
Children: Name: Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
OrphaCode: 567552
DisorderType: Clinical subtype
Name: Idiopathic multidrug-resistant nephrotic syndrome
OrphaCode: 567550
DisorderType: Clinical subtype
Name: Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
OrphaCode: 567546
DisorderType: Clinical syndrome
Name: Idiopathic steroid-sensitive nephrotic syndrome
OrphaCode: 69061
DisorderType: Clinical syndrome
Name: Genetic nephrotic syndrome
OrphaCode: 564127
DisorderType: Clinical group
Children: Name: Congenital nephrotic syndrome, Finnish type
OrphaCode: 839
DisorderType: Disease
Name: Genetic steroid-resistant nephrotic syndrome
OrphaCode: 656
DisorderType: Disease
Name: Disorder with multisystemic involvement and glomerulopathy
OrphaCode: 567562
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Nail-patella-like renal disease
OrphaCode: 2613
DisorderType: Disease
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
OrphaCode: 69063
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
OrphaCode: 93114
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Action myoclonus-renal failure syndrome
OrphaCode: 163696
DisorderType: Disease
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Collagen-related glomerular basement membrane disease
OrphaCode: 544590
DisorderType: Category
Children: Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: HANAC syndrome
OrphaCode: 73229
DisorderType: Disease
Name: Fibronectin glomerulopathy
OrphaCode: 84090
DisorderType: Disease
Name: Collagen type III glomerulopathy
OrphaCode: 84087
DisorderType: Disease
Name: Immunotactoid or fibrillary glomerulopathy
OrphaCode: 91137
DisorderType: Clinical group
Children: Name: Non-amyloid fibrillary glomerulopathy
OrphaCode: 97566
DisorderType: Disease
Name: Immunotactoid glomerulopathy
OrphaCode: 97567
DisorderType: Disease
Name: Primary membranoproliferative glomerulonephritis
OrphaCode: 54370
DisorderType: Disease
Children: Name: Immunoglobulin-mediated membranoproliferative glomerulonephritis
OrphaCode: 329903
DisorderType: Clinical subtype
Name: C3 glomerulopathy
OrphaCode: 329918
DisorderType: Clinical subtype
Children: Name: Dense deposit disease
OrphaCode: 93571
DisorderType: Histopathological subtype
Name: C3 glomerulonephritis
OrphaCode: 329931
DisorderType: Histopathological subtype
Name: Primary membranous glomerulonephritis
OrphaCode: 97560
DisorderType: Disease
Name: Thrombotic microangiopathy
OrphaCode: 93573
DisorderType: Clinical group
Children: Name: Thrombotic thrombocytopenic purpura
OrphaCode: 54057
DisorderType: Disease
Children: Name: Congenital thrombotic thrombocytopenic purpura
OrphaCode: 93583
DisorderType: Clinical subtype
Name: Immune-mediated thrombotic thrombocytopenic purpura
OrphaCode: 93585
DisorderType: Clinical subtype
Name: Pediatric systemic lupus erythematosus
OrphaCode: 93552
DisorderType: Disease
Name: Systemic lupus erythematosus
OrphaCode: 536
DisorderType: Disease
Name: Hemolytic uremic syndrome
OrphaCode: 544458
DisorderType: Clinical group
Children: Name: Infection-related hemolytic uremic syndrome
OrphaCode: 544482
DisorderType: Disease
Children: Name: Shiga toxin-associated hemolytic uremic syndrome
OrphaCode: 90038
DisorderType: Clinical subtype
Name: Streptococcus pneumoniae-associated hemolytic uremic syndrome
OrphaCode: 544493
DisorderType: Clinical subtype
Name: Atypical hemolytic uremic syndrome
OrphaCode: 2134
DisorderType: Disease
Children: Name: Atypical hemolytic uremic syndrome with anti-factor H antibodies
OrphaCode: 93581
DisorderType: Etiological subtype
Name: Atypical hemolytic uremic syndrome with complement gene abnormality
OrphaCode: 544472
DisorderType: Etiological subtype
Name: Hemolytic uremic syndrome with DGKE deficiency
OrphaCode: 357008
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: De novo thrombotic microangiopathy after kidney transplantation
OrphaCode: 244275
DisorderType: Particular clinical situation in a disease or syndrome
Name: Genetic cystic renal disease
OrphaCode: 93587
DisorderType: Category
Children: Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Adult familial nephronophthisis-spastic quadriparesia syndrome
OrphaCode: 2666
DisorderType: Disease
Name: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
OrphaCode: 79118
DisorderType: Disease
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Karyomegalic interstitial nephritis
OrphaCode: 401996
DisorderType: Disease
Name: Ventriculomegaly-cystic kidney disease
OrphaCode: 443988
DisorderType: Disease
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Senior-Boichis syndrome
OrphaCode: 84081
DisorderType: Disease
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Autosomal dominant tubulointerstitial kidney disease
OrphaCode: 34149
DisorderType: Disease
Children: Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: MUC1-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88949
DisorderType: Clinical subtype
Name: UMOD-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88950
DisorderType: Clinical subtype
Name: REN-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 217330
DisorderType: Clinical subtype
Name: Nephronophthisis
OrphaCode: 655
DisorderType: Disease
Children: Name: Late-onset nephronophthisis
OrphaCode: 93589
DisorderType: Clinical subtype
Name: Infantile nephronophthisis
OrphaCode: 93591
DisorderType: Clinical subtype
Name: Juvenile nephronophthisis
OrphaCode: 93592
DisorderType: Clinical subtype
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Nephropathy secondary to a storage or other metabolic disease
OrphaCode: 93593
DisorderType: Category
Children: Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Galactosemia
OrphaCode: 352
DisorderType: Category
Children: Name: Galactokinase deficiency
OrphaCode: 79237
DisorderType: Disease
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Galactose mutarotase deficiency
OrphaCode: 570422
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Hereditary xanthinuria
OrphaCode: 3467
DisorderType: Disease
Children: Name: Xanthinuria type I
OrphaCode: 93601
DisorderType: Etiological subtype
Name: Xanthinuria type II
OrphaCode: 93602
DisorderType: Etiological subtype
Name: Adenine phosphoribosyltransferase deficiency
OrphaCode: 976
DisorderType: Disease
Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 3222
DisorderType: Disease
Children: Name: Mild phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411536
DisorderType: Clinical subtype
Name: Severe phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411543
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia
OrphaCode: 28
DisorderType: Disease
Children: Name: Vitamin B12-responsive methylmalonic acidemia type cblA
OrphaCode: 79310
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblB
OrphaCode: 79311
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
OrphaCode: 308442
DisorderType: Clinical subtype
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Primary hyperoxaluria
OrphaCode: 416
DisorderType: Disease
Children: Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 2
OrphaCode: 93599
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 3
OrphaCode: 93600
DisorderType: Clinical subtype
Name: Imerslund-Gräsbeck syndrome
OrphaCode: 35858
DisorderType: Disease
Name: Familial renal glucosuria
OrphaCode: 69076
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Juvenile cataract-microcornea-renal glucosuria syndrome
OrphaCode: 247794
DisorderType: Disease
Name: Autosomal recessive infantile hypercalcemia
OrphaCode: 300547
DisorderType: Disease
Name: Congenital disorder of glycosylation with nephropathy as a major feature
OrphaCode: 371207
DisorderType: Category
Children: Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: Rare renal tubular disease
OrphaCode: 93603
DisorderType: Category
Children: Name: Cataract-nephropathy-encephalopathy syndrome
OrphaCode: 1380
DisorderType: Malformation syndrome
Name: Oncogenic osteomalacia
OrphaCode: 352540
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Acquired monoclonal Ig light chain-associated Fanconi syndrome
OrphaCode: 91136
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Cystinuria
OrphaCode: 214
DisorderType: Disease
Children: Name: Cystinuria type A
OrphaCode: 93612
DisorderType: Etiological subtype
Name: Cystinuria type B
OrphaCode: 93613
DisorderType: Etiological subtype
Name: Bartter syndrome
OrphaCode: 112
DisorderType: Disease
Children: Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Bartter syndrome type 3
OrphaCode: 93605
DisorderType: Clinical subtype
Name: Bartter syndrome type 5
OrphaCode: 570371
DisorderType: Clinical subtype
Name: Bartter syndrome type 1
OrphaCode: 620217
DisorderType: Clinical subtype
Name: Bartter syndrome type 2
OrphaCode: 620220
DisorderType: Clinical subtype
Name: Gitelman syndrome
OrphaCode: 358
DisorderType: Disease
Name: Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
OrphaCode: 3145
DisorderType: Disease
Name: Idiopathic hypercalciuria
OrphaCode: 2197
DisorderType: Disease
Name: Arginine vasopressin resistance
OrphaCode: 223
DisorderType: Disease
Name: Primary Fanconi renotubular syndrome
OrphaCode: 3337
DisorderType: Disease
Name: Autosomal dominant primary hypomagnesemia with hypocalciuria
OrphaCode: 34528
DisorderType: Disease
Name: Tubulointerstitial nephritis and uveitis syndrome
OrphaCode: 91500
DisorderType: Disease
Name: Nephrogenic syndrome of inappropriate antidiuresis
OrphaCode: 93606
DisorderType: Disease
Name: Hereditary renal hypouricemia
OrphaCode: 94088
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: Primary renal tubular acidosis
OrphaCode: 314822
DisorderType: Clinical group
Children: Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Distal renal tubular acidosis
OrphaCode: 18
DisorderType: Disease
Children: Name: Autosomal dominant distal renal tubular acidosis
OrphaCode: 93608
DisorderType: Clinical subtype
Name: Distal renal tubular acidosis with anemia
OrphaCode: 93610
DisorderType: Clinical subtype
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Proximal renal tubular acidosis
OrphaCode: 47159
DisorderType: Disease
Children: Name: Autosomal recessive proximal renal tubular acidosis
OrphaCode: 93607
DisorderType: Clinical subtype
Name: Autosomal dominant proximal renal tubular acidosis
OrphaCode: 314889
DisorderType: Clinical subtype
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
OrphaCode: 363694
DisorderType: Disease
Name: Pseudohypoaldosteronism
OrphaCode: 444916
DisorderType: Clinical group
Children: Name: Pseudohypoaldosteronism type 2
OrphaCode: 757
DisorderType: Disease
Children: Name: Pseudohypoaldosteronism type 2A
OrphaCode: 88938
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2B
OrphaCode: 88939
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2C
OrphaCode: 88940
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2D
OrphaCode: 300525
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2E
OrphaCode: 300530
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 1
OrphaCode: 756
DisorderType: Disease
Children: Name: Renal pseudohypoaldosteronism type 1
OrphaCode: 171871
DisorderType: Clinical subtype
Name: Generalized pseudohypoaldosteronism type 1
OrphaCode: 171876
DisorderType: Clinical subtype
Name: Transient pseudohypoaldosteronism
OrphaCode: 93164
DisorderType: Disease
Name: Primary hypomagnesemia with secondary hypocalcemia
OrphaCode: 30924
DisorderType: Disease
Name: Isolated autosomal dominant hypomagnesemia, Glaudemans type
OrphaCode: 199326
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
OrphaCode: 306516
DisorderType: Disease
Children: Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
OrphaCode: 31043
DisorderType: Clinical subtype
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: EGF-related primary hypomagnesemia with intellectual disability
OrphaCode: 620368
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
OrphaCode: 528105
DisorderType: Disease
Name: Kidney tubulopathy-dilated cardiomyopathy syndrome
OrphaCode: 73224
DisorderType: Disease
Name: Hematological disorder with renal involvement
OrphaCode: 93614
DisorderType: Category
Children: Name: Beta-thalassemia
OrphaCode: 848
DisorderType: Disease
Children: Name: Beta-thalassemia major
OrphaCode: 231214
DisorderType: Clinical subtype
Name: Beta-thalassemia intermedia
OrphaCode: 231222
DisorderType: Clinical subtype
Name: Dominant beta-thalassemia
OrphaCode: 231226
DisorderType: Clinical subtype
Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Rare cause of hypertension
OrphaCode: 93618
DisorderType: Category
Children: Name: Congenital renal artery stenosis
OrphaCode: 97598
DisorderType: Disease
Name: Rare genetic cause of hypertension
OrphaCode: 156629
DisorderType: Category
Children: Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Liddle syndrome
OrphaCode: 526
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Familial hyperthyroidism due to mutations in TSH receptor
OrphaCode: 424
DisorderType: Disease
Name: Pseudohypoaldosteronism type 2
OrphaCode: 757
DisorderType: Disease
Children: Name: Pseudohypoaldosteronism type 2A
OrphaCode: 88938
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2B
OrphaCode: 88939
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2C
OrphaCode: 88940
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2D
OrphaCode: 300525
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2E
OrphaCode: 300530
DisorderType: Etiological subtype
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Apparent mineralocorticoid excess
OrphaCode: 320
DisorderType: Disease
Name: Autosomal dominant progressive nephropathy with hypertension
OrphaCode: 88659
DisorderType: Disease
Name: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
OrphaCode: 88660
DisorderType: Disease
Name: Familial hyperaldosteronism
OrphaCode: 235936
DisorderType: Clinical group
Children: Name: Familial hyperaldosteronism type IV
OrphaCode: 642671
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Familial hyperaldosteronism type I
OrphaCode: 403
DisorderType: Disease
Name: Familial hyperaldosteronism type III
OrphaCode: 251274
DisorderType: Disease
Name: Rare renal tumor
OrphaCode: 93619
DisorderType: Category
Children: Name: Benign metanephric tumor
OrphaCode: 464359
DisorderType: Disease
Name: Congenital mesoblastic nephroma
OrphaCode: 2665
DisorderType: Disease
Name: Nephroblastoma
OrphaCode: 654
DisorderType: Disease
Name: Multiloculated renal cyst
OrphaCode: 97366
DisorderType: Morphological anomaly
Name: Renal cell carcinoma
OrphaCode: 217071
DisorderType: Clinical group
Children: Name: Collecting duct carcinoma
OrphaCode: 247203
DisorderType: Disease
Name: Clear cell renal carcinoma
OrphaCode: 319276
DisorderType: Disease
Children: Name: Multilocular cystic renal neoplasm of low malignant potential
OrphaCode: 319287
DisorderType: Histopathological subtype
Name: Clear cell papillary renal cell carcinoma
OrphaCode: 404511
DisorderType: Histopathological subtype
Name: Papillary renal cell carcinoma
OrphaCode: 319298
DisorderType: Disease
Name: Chromophobe renal cell carcinoma
OrphaCode: 319303
DisorderType: Disease
Name: MiT family translocation renal cell carcinoma
OrphaCode: 319308
DisorderType: Disease
Name: Renal medullary carcinoma
OrphaCode: 319319
DisorderType: Disease
Name: Mucinous tubular and spindle cell renal carcinoma
OrphaCode: 319322
DisorderType: Disease
Name: Tubulocystic renal cell carcinoma
OrphaCode: 319325
DisorderType: Disease
Name: Acquired cystic disease-associated renal cell carcinoma
OrphaCode: 404514
DisorderType: Disease
Name: Cystic hamartoma of lung and kidney
OrphaCode: 2111
DisorderType: Disease
Name: Clear cell sarcoma of kidney
OrphaCode: 457246
DisorderType: Disease
Name: Inherited renal cancer-predisposing syndrome
OrphaCode: 319328
DisorderType: Category
Children: Name: Hereditary papillary renal cell carcinoma
OrphaCode: 47044
DisorderType: Disease
Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
OrphaCode: 319462
DisorderType: Disease
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Hereditary clear cell renal cell carcinoma
OrphaCode: 422526
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Complication in hemodialysis
OrphaCode: 268316
DisorderType: Particular clinical situation in a disease or syndrome
Name: Neonatal renal venous thrombosis
OrphaCode: 664912
DisorderType: Disease