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CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
162715
Orphanet classification of rare renal diseases
93626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93626
Rare renal disease
Category
93545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545
Renal or urinary tract malformation
Category
93546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546
Non-syndromic renal or urinary tract malformation
Category
1851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851
Multicystic dysplastic kidney
Morphological anomaly
97363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363
Unilateral multicystic dysplastic kidney
Clinical subtype
97364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364
Bilateral multicystic dysplastic kidney
Clinical subtype
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
3033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033
Renal tubular dysgenesis
Malformation syndrome
97367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367
Renal tubular dysgenesis due to twin-twin transfusion
Etiological subtype
97368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368
Drug-related renal tubular dysgenesis
Etiological subtype
97369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369
Renal tubular dysgenesis of genetic origin
Etiological subtype
1309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309
Medullary sponge kidney
Morphological anomaly
2260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260
Oligomeganephronia
Morphological anomaly
237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Duplication of urethra
Morphological anomaly
617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Congenital primary megaureter
Morphological anomaly
238642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
Primary megaureter, adult-onset form
Clinical subtype
238646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, obstructed form
Clinical subtype
238650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, refluxing form
Clinical subtype
238654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Congenital primary megaureter, nonrefluxing and unobstructed form
Clinical subtype
544578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578
Congenital primary megaureter, refluxing and obstructed form
Clinical subtype
93101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101
Renal hypoplasia
Morphological anomaly
97361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361
Renal hypoplasia, unilateral
Clinical subtype
97362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362
Renal hypoplasia, bilateral
Clinical subtype
93108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108
Renal dysplasia
Morphological anomaly
93172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172
Renal dysplasia, unilateral
Clinical subtype
93173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173
Renal dysplasia, bilateral
Clinical subtype
93109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109
Congenital megacalycosis
Morphological anomaly
93176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176
Unilateral congenital megacalycosis
Clinical subtype
93177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177
Congenital bilateral megacalycosis
Clinical subtype
238637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637
Megacystis-megaureter syndrome
Disease
411709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709
Renal agenesis
Morphological anomaly
1848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848
Renal agenesis, bilateral
Clinical subtype
93100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100
Renal agenesis, unilateral
Clinical subtype
435365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365
Fetal lower urinary tract obstruction
Clinical group
2970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Prune belly syndrome
Malformation syndrome
105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Atresia of urethra
Morphological anomaly
93110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Posterior urethral valve
Morphological anomaly
435372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372
Anterior urethral valve
Morphological anomaly
435743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743
Congenital urachal anomaly
Category
488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Urachal cyst
Morphological anomaly
431341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341
Patent urachus
Morphological anomaly
431344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344
Urachal sinus
Morphological anomaly
431347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347
Urachal diverticulum
Morphological anomaly
289365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Familial vesicoureteral reflux
Malformation syndrome
652528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528
Non-syndromic supernumerary kidneys
Morphological anomaly
93547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547
Syndromic renal or urinary tract malformation
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome
971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971
Acrorenal syndrome
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
AREDYLD syndrome
Malformation syndrome
1765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Dyschondrosteosis-nephritis syndrome
Malformation syndrome
1834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Axial mesodermal dysplasia spectrum
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
1973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973
Faciocardiorenal syndrome
Malformation syndrome
2186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186
Hydrocephalus-blue sclerae-nephropathy syndrome
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
2241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Malformation syndrome
2256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
1475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Renal coloboma syndrome
Malformation syndrome
2673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673
Neurofaciodigitorenal syndrome
Malformation syndrome
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
2704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704
Ochoa syndrome
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Malformation syndrome
2820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820
Spastic paraplegia-nephritis-deafness syndrome
Clinical syndrome
2838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838
Renal caliceal diverticuli-deafness syndrome
Malformation syndrome
3032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032
NPHP3-related Meckel-like syndrome
Malformation syndrome
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
3186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186
Holoprosencephaly-radial heart renal anomalies syndrome
Malformation syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
3326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326
Thymic-renal-anal-lung dysplasia
Malformation syndrome
3327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327
Thyrocerebrorenal syndrome
Malformation syndrome
3404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404
Ulbright-Hodes syndrome
Malformation syndrome
1192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Malformation syndrome
3411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411
Double uterus-hemivagina-renal agenesis syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
71273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273
Renal nutcracker syndrome
Disease
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
444069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Malformation syndrome
2111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111
Cystic hamartoma of lung and kidney
Disease
500095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095
Tall stature-intellectual disability-renal anomalies syndrome
Malformation syndrome
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
592574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574
Menke-Hennekam syndrome
Malformation syndrome
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
656130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Disease
93548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93548
Glomerular disease
Category
34145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34145
Immunoglobulin A nephropathy
Disease
567544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544
Idiopathic non-lupus full-house nephropathy
Clinical syndrome
567554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567554
Systemic disease with glomerulopathy as a major feature
Category
567556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556
Genetic systemic disease with glomerulopathy as a major feature
Category
329481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481
Lipoprotein glomerulopathy
Disease
575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575
Muckle-Wells syndrome
Disease
84090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090
Fibronectin glomerulopathy
Disease
85450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450
Hereditary amyloidosis with primary renal involvement
Disease
93560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560
AApoAI amyloidosis
Clinical subtype
93561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561
ALys amyloidosis
Clinical subtype
93562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562
AFib amyloidosis
Clinical subtype
238269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269
AApoAII amyloidosis
Clinical subtype
444092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092
Autoimmune interstitial lung disease-arthritis syndrome
Disease
36412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412
Hypocomplementemic urticarial vasculitis
Disease
342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342
Familial Mediterranean fever
Disease
567558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567558
Non-genetic systemic disease with glomerulopathy as a major feature
Category
93568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568
Juvenile polymyositis
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732
Polymyositis
Disease
90291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291
Systemic sclerosis
Disease
220393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393
Diffuse cutaneous systemic sclerosis
Clinical subtype
220402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402
Limited cutaneous systemic sclerosis
Clinical subtype
220407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407
Limited systemic sclerosis
Clinical subtype
439232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232
AApoAIV amyloidosis
Disease
91137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137
Immunotactoid or fibrillary glomerulopathy
Clinical group
97566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566
Non-amyloid fibrillary glomerulopathy
Disease
97567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567
Immunotactoid glomerulopathy
Disease
567560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567560
Systemic vasculitis associated with glomerulopathy
Category
536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536
Systemic lupus erythematosus
Disease
727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727
Microscopic polyangiitis
Disease
767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767
Polyarteritis nodosa
Disease
439737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737
Primary polyarteritis nodosa
Clinical subtype
439729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729
Cutaneous polyarteritis nodosa
Clinical subtype
439755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755
Single-organ polyarteritis nodosa
Clinical subtype
439762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762
Systemic polyarteritis nodosa
Clinical subtype
439746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746
Secondary polyarteritis nodosa
Clinical subtype
900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900
Granulomatosis with polyangiitis
Disease
375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375
Anti-glomerular basement membrane disease
Disease
761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761
Immunoglobulin A vasculitis
Disease
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183
Eosinophilic granulomatosis with polyangiitis
Disease
728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728
Relapsing polychondritis
Disease
397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397
Giant cell arteritis
Disease
91138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138
Cryoglobulinemic vasculitis
Disease
93554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554
Mixed cryoglobulinemia type II
Etiological subtype
93555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555
Mixed cryoglobulinemia type III
Etiological subtype
36258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258
Buerger disease
Disease
3287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287
Takayasu arteritis
Disease
93126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126
Pauci-immune glomerulonephritis
Disease
97563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563
Pauci-immune glomerulonephritis with ANCA
Clinical subtype
97564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564
Pauci-immune glomerulonephritis without ANCA
Clinical subtype
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809
Mixed connective tissue disease
Disease
442582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582
AH amyloidosis
Disease
86861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861
Non-amyloid monoclonal immunoglobulin deposition disease
Disease
93556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556
Heavy chain deposition disease
Clinical subtype
93557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557
Light and heavy chain deposition disease
Clinical subtype
93558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558
Light chain deposition disease
Clinical subtype
84087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087
Collagen type III glomerulopathy
Disease
221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221
Dermatomyositis
Disease
645617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617
Amyopathic dermatomyositis
Clinical subtype
645626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626
Adermatopathic dermatomyositis
Clinical subtype
645613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613
Classical dermatomyositis
Clinical subtype
85445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445
AA amyloidosis
Disease
449395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395
IgG4-related kidney disease
Clinical subtype
829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829
Adult-onset Still disease
Disease
779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779
Reynolds syndrome
Disease
567564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564
Nephrotic syndrome without extrarenal manifestations
Category
357502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502
Idiopathic nephrotic syndrome
Clinical group
567548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548
Idiopathic steroid-resistant nephrotic syndrome
Clinical syndrome
567552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Clinical subtype
567550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550
Idiopathic multidrug-resistant nephrotic syndrome
Clinical subtype
567546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Clinical syndrome
69061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061
Idiopathic steroid-sensitive nephrotic syndrome
Clinical syndrome
564127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127
Genetic nephrotic syndrome
Clinical group
839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839
Congenital nephrotic syndrome, Finnish type
Disease
656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656
Genetic steroid-resistant nephrotic syndrome
Disease
567562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562
Disorder with multisystemic involvement and glomerulopathy
Category
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
1830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Schimke immuno-osseous dysplasia
Disease
2065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065
Galloway-Mowat syndrome
Malformation syndrome
2613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613
Nail-patella-like renal disease
Disease
2670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670
Pierson syndrome
Malformation syndrome
2715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715
Severe oculo-renal-cerebellar syndrome
Malformation syndrome
220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Denys-Drash syndrome
Disease
347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Frasier syndrome
Disease
300333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Disease
306504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease
69063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Disease
69735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease
93114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Disease
280406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Disease
506334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Disease
163696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696
Action myoclonus-renal failure syndrome
Disease
182050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050
MYH9-related disease
Disease
544590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590
Collagen-related glomerular basement membrane disease
Category
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
73229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229
HANAC syndrome
Disease
54370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370
Primary membranoproliferative glomerulonephritis
Disease
329903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Clinical subtype
329918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918
C3 glomerulopathy
Clinical subtype
93571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571
Dense deposit disease
Histopathological subtype
329931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931
C3 glomerulonephritis
Histopathological subtype
97560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560
Primary membranous glomerulonephritis
Disease
93573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93573
Thrombotic microangiopathy
Clinical group
54057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057
Thrombotic thrombocytopenic purpura
Disease
93583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583
Congenital thrombotic thrombocytopenic purpura
Clinical subtype
93585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585
Immune-mediated thrombotic thrombocytopenic purpura
Clinical subtype
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536
Systemic lupus erythematosus
Disease
544458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544458
Hemolytic uremic syndrome
Clinical group
544482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482
Infection-related hemolytic uremic syndrome
Disease
90038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038
Shiga toxin-associated hemolytic uremic syndrome
Clinical subtype
544493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493
Streptococcus pneumoniae-associated hemolytic uremic syndrome
Clinical subtype
2134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134
Atypical hemolytic uremic syndrome
Disease
93581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Etiological subtype
544472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472
Atypical hemolytic uremic syndrome with complement gene abnormality
Etiological subtype
357008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008
Hemolytic uremic syndrome with DGKE deficiency
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
244275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275
De novo thrombotic microangiopathy after kidney transplantation
Particular clinical situation in a disease or syndrome
93587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587
Genetic cystic renal disease
Category
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731
Autosomal recessive polycystic kidney disease
Disease
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
2031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Malformation syndrome
2666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666
Adult familial nephronophthisis-spastic quadriparesia syndrome
Disease
79118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Disease
140969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Saldino-Mainzer syndrome
Disease
88924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Disease
294415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415
Renal-hepatic-pancreatic dysplasia
Malformation syndrome
220497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Joubert syndrome with renal defect
Malformation syndrome
401996
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996
Karyomegalic interstitial nephritis
Disease
443988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988
Ventriculomegaly-cystic kidney disease
Disease
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
140976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976
RHYNS syndrome
Disease
3156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156
Senior-Loken syndrome
Disease
84081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081
Senior-Boichis syndrome
Disease
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730
Autosomal dominant polycystic kidney disease
Disease
34149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149
Autosomal dominant tubulointerstitial kidney disease
Disease
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
88949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949
MUC1-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
88950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950
UMOD-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
217330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330
REN-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655
Nephronophthisis
Disease
93589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589
Late-onset nephronophthisis
Clinical subtype
93591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591
Infantile nephronophthisis
Clinical subtype
93592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592
Juvenile nephronophthisis
Clinical subtype
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
93593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593
Nephropathy secondary to a storage or other metabolic disease
Category
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905
Wilson disease
Disease
60
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60
Alpha-1-antitrypsin deficiency
Disease
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352
Galactosemia
Category
79237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237
Galactokinase deficiency
Disease
79238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238
Galactose epimerase deficiency
Disease
308473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473
Erythrocyte galactose epimerase deficiency
Clinical subtype
308487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487
Generalized galactose epimerase deficiency
Clinical subtype
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
570422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422
Galactose mutarotase deficiency
Disease
2116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116
Hartnup disease
Disease
469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Hereditary fructose intolerance
Disease
364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364
Glycogen storage disease due to glucose-6-phosphatase deficiency
Disease
79258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Clinical subtype
79259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Clinical subtype
738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738
Porphyria
Clinical group
79277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Congenital erythropoietic porphyria
Disease
79278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Autosomal erythropoietic protoporphyria
Disease
95157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157
Acute hepatic porphyria
Clinical group
79273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273
Hereditary coproporphyria
Disease
79276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276
Acute intermittent porphyria
Disease
79473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473
Porphyria variegata
Disease
100924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924
Porphyria due to ALA dehydratase deficiency
Disease
95161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
Chronic hepatic porphyria
Clinical group
95159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Hepatoerythropoietic porphyria
Disease
101330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330
Porphyria cutanea tarda
Disease
443057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057
Sporadic porphyria cutanea tarda
Clinical subtype
443062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062
Familial porphyria cutanea tarda
Clinical subtype
280379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379
Erythropoietic uroporphyria associated with myeloid malignancy
Disease
443197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197
X-linked erythropoietic protoporphyria
Disease
3467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467
Hereditary xanthinuria
Disease
93601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601
Xanthinuria type I
Etiological subtype
93602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602
Xanthinuria type II
Etiological subtype
976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976
Adenine phosphoribosyltransferase deficiency
Disease
650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
LCAT deficiency
Disease
79292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
Fish-eye disease
Clinical subtype
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
27
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27
Vitamin B12-unresponsive methylmalonic acidemia
Disease
79312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Clinical subtype
289916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Clinical subtype
1031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031
Enamel-renal syndrome
Malformation syndrome
3222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222
Phosphoribosylpyrophosphate synthetase superactivity
Disease
411536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536
Mild phosphoribosylpyrophosphate synthetase superactivity
Clinical subtype
411543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543
Severe phosphoribosylpyrophosphate synthetase superactivity
Clinical subtype
28
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28
Vitamin B12-responsive methylmalonic acidemia
Disease
79310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310
Vitamin B12-responsive methylmalonic acidemia type cblA
Clinical subtype
79311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311
Vitamin B12-responsive methylmalonic acidemia type cblB
Clinical subtype
308442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Clinical subtype
882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Tyrosinemia type 1
Disease
2088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088
Fanconi-Bickel syndrome
Disease
416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416
Primary hyperoxaluria
Disease
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
93599
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599
Primary hyperoxaluria type 2
Clinical subtype
93600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600
Primary hyperoxaluria type 3
Clinical subtype
35858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858
Imerslund-Gräsbeck syndrome
Disease
69076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076
Familial renal glucosuria
Disease
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
206428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Clinical group
510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510
Lesch-Nyhan syndrome
Disease
79233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Disease
247794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794
Juvenile cataract-microcornea-renal glucosuria syndrome
Disease
300547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547
Autosomal recessive infantile hypercalcemia
Disease
371207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371207
Congenital disorder of glycosylation with nephropathy as a major feature
Category
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
79325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325
ALG8-CDG
Disease
238459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459
SLC35A1-CDG
Disease
411629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629
Infantile nephropathic cystinosis
Clinical subtype
411634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634
Juvenile nephropathic cystinosis
Clinical subtype
324525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Disease
620371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Disease
93603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93603
Rare renal tubular disease
Category
1380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380
Cataract-nephropathy-encephalopathy syndrome
Malformation syndrome
352540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540
Oncogenic osteomalacia
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
91136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Disease
544628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Disease
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437
Hypophosphatemic rickets
Clinical group
1652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Dent disease
Disease
93622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
Dent disease type 1
Clinical subtype
93623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Dent disease type 2
Clinical subtype
244305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Disease
89936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936
X-linked hypophosphatemia
Disease
89937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937
Autosomal dominant hypophosphatemic rickets
Disease
157215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215
Hereditary hypophosphatemic rickets with hypercalciuria
Disease
289176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176
Autosomal recessive hypophosphatemic rickets
Disease
214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214
Cystinuria
Disease
93612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612
Cystinuria type A
Etiological subtype
93613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613
Cystinuria type B
Etiological subtype
112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112
Bartter syndrome
Disease
89938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938
Bartter syndrome type 4
Clinical subtype
93605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605
Bartter syndrome type 3
Clinical subtype
570371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371
Bartter syndrome type 5
Clinical subtype
620217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217
Bartter syndrome type 1
Clinical subtype
620220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220
Bartter syndrome type 2
Clinical subtype
358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358
Gitelman syndrome
Disease
3145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145
Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
Disease
2197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197
Idiopathic hypercalciuria
Disease
223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223
Nephrogenic diabetes insipidus
Disease
3337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337
Primary Fanconi renotubular syndrome
Disease
34528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528
Autosomal dominant primary hypomagnesemia with hypocalciuria
Disease
91500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500
Tubulointerstitial nephritis and uveitis syndrome
Disease
93606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606
Nephrogenic syndrome of inappropriate antidiuresis
Disease
94088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088
Hereditary renal hypouricemia
Malformation syndrome
97593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593
Pseudohypoparathyroidism
Category
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
457062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
Clinical group
94089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089
Pseudohypoparathyroidism type 1B
Disease
94090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090
Pseudohypoparathyroidism type 2
Disease
199343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343
EAST syndrome
Disease
238517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517
Hypotonia-cystinuria type 1 syndrome
Clinical group
163690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690
Hypotonia-cystinuria syndrome
Disease
163693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693
2p21 microdeletion syndrome
Disease
238523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523
Atypical hypotonia-cystinuria syndrome
Disease
314822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314822
Primary renal tubular acidosis
Clinical group
2785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785
Osteopetrosis with renal tubular acidosis
Disease
3240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Disease
18
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18
Distal renal tubular acidosis
Disease
93608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608
Autosomal dominant distal renal tubular acidosis
Clinical subtype
93610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610
Distal renal tubular acidosis with anemia
Clinical subtype
402041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041
Autosomal recessive distal renal tubular acidosis
Clinical subtype
47159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159
Proximal renal tubular acidosis
Disease
93607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607
Autosomal recessive proximal renal tubular acidosis
Clinical subtype
314889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889
Autosomal dominant proximal renal tubular acidosis
Clinical subtype
363534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Disease
363694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Disease
444916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444916
Pseudohypoaldosteronism
Clinical group
757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757
Pseudohypoaldosteronism type 2
Disease
88938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938
Pseudohypoaldosteronism type 2A
Etiological subtype
88939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939
Pseudohypoaldosteronism type 2B
Etiological subtype
88940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940
Pseudohypoaldosteronism type 2C
Etiological subtype
300525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525
Pseudohypoaldosteronism type 2D
Etiological subtype
300530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530
Pseudohypoaldosteronism type 2E
Etiological subtype
756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756
Pseudohypoaldosteronism type 1
Disease
171871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871
Renal pseudohypoaldosteronism type 1
Clinical subtype
171876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876
Generalized pseudohypoaldosteronism type 1
Clinical subtype
93164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93164
Transient pseudohypoaldosteronism
Disease
30924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924
Primary hypomagnesemia with secondary hypocalcemia
Disease
199326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Disease
306516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Disease
2196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Clinical subtype
31043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Clinical subtype
324525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Disease
564178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Disease
505242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Disease
620363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Disease
620368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368
EGF-related primary hypomagnesemia with intellectual disability
Disease
620371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Disease
474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Jeune syndrome
Malformation syndrome
528105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Disease
73224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224
Kidney tubulopathy-dilated cardiomyopathy syndrome
Disease
93614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614
Hematological disorder with renal involvement
Category
848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848
Beta-thalassemia
Disease
231214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214
Beta-thalassemia major
Clinical subtype
231222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222
Beta-thalassemia intermedia
Clinical subtype
231226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226
Dominant beta-thalassemia
Clinical subtype
232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
Sickle cell anemia
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
93618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93618
Rare cause of hypertension
Category
97598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598
Congenital renal artery stenosis
Disease
156629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629
Rare genetic cause of hypertension
Category
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526
Liddle syndrome
Disease
1276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Brachydactyly-arterial hypertension syndrome
Malformation syndrome
424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424
Familial hyperthyroidism due to mutations in TSH receptor
Disease
757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757
Pseudohypoaldosteronism type 2
Disease
88938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938
Pseudohypoaldosteronism type 2A
Etiological subtype
88939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939
Pseudohypoaldosteronism type 2B
Etiological subtype
88940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940
Pseudohypoaldosteronism type 2C
Etiological subtype
300525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525
Pseudohypoaldosteronism type 2D
Etiological subtype
300530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530
Pseudohypoaldosteronism type 2E
Etiological subtype
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320
Apparent mineralocorticoid excess
Disease
88659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659
Autosomal dominant progressive nephropathy with hypertension
Disease
88660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Disease
235936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936
Familial hyperaldosteronism
Clinical group
642671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671
Familial hyperaldosteronism type IV
Disease
404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Familial hyperaldosteronism type II
Disease
403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403
Familial hyperaldosteronism type I
Disease
251274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274
Familial hyperaldosteronism type III
Disease
93619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93619
Rare renal tumor
Category
464359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359
Benign metanephric tumor
Disease
2665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665
Congenital mesoblastic nephroma
Disease
654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654
Nephroblastoma
Disease
97366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366
Multiloculated renal cyst
Morphological anomaly
217071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071
Renal cell carcinoma
Clinical group
247203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203
Collecting duct carcinoma
Disease
319276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276
Clear cell renal carcinoma
Disease
319287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287
Multilocular cystic renal neoplasm of low malignant potential
Histopathological subtype
404511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511
Clear cell papillary renal cell carcinoma
Histopathological subtype
319298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298
Papillary renal cell carcinoma
Disease
319303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303
Chromophobe renal cell carcinoma
Disease
319308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308
MiT family translocation renal cell carcinoma
Disease
319319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319
Renal medullary carcinoma
Disease
319322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322
Mucinous tubular and spindle cell renal carcinoma
Disease
319325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325
Tubulocystic renal cell carcinoma
Disease
404514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514
Acquired cystic disease-associated renal cell carcinoma
Disease
2111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111
Cystic hamartoma of lung and kidney
Disease
457246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246
Clear cell sarcoma of kidney
Disease
319328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319328
Inherited renal cancer-predisposing syndrome
Category
47044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044
Hereditary papillary renal cell carcinoma
Disease
97290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290
Familial papillary thyroid carcinoma with renal papillary neoplasia
Disease
99880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Hyperparathyroidism-jaw tumor syndrome
Disease
319462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Disease
404476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Malformation syndrome
422526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526
Hereditary clear cell renal cell carcinoma
Disease
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
2849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849
Perlman syndrome
Malformation syndrome
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Hereditary leiomyomatosis and renal cell cancer
Disease
268316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316
Complication in hemodialysis
Particular clinical situation in a disease or syndrome