Creative Commons Attribution 4.0 International 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 Classic 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 Supernumerary kidney 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 syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome 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 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 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 syndrome Malformation syndrome 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Trisomy 18 syndrome 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 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 Urofacial 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 3015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 Radio-renal syndrome Malformation syndrome 1756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 Caudal duplication Malformation syndrome 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-urinary tract syndrome Disease 689822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 Structural heart defects-renal anomalies syndrome Malformation syndrome 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 329481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 Lipoprotein glomerulopathy 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 575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 Muckle-Wells syndrome 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 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 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 86818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis 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 Hereditary 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 syndromic thrombocytopenia 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 84090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 Fibronectin glomerulopathy Disease 84087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087 Collagen type III glomerulopathy 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 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 659681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 Erythropoietic 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 443197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 X-linked erythropoietic protoporphyria Disease 280379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 Erythropoietic uroporphyria associated with myeloid malignancy Disease 95159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 Hepatoerythropoietic porphyria Disease 659672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 Harderoporphyria Disease 659694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 Hepatic porphyria Clinical group 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 Variegate porphyria Disease 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 659698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 Hepatic cutaneous porphyria Clinical group 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 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 213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 Cystinosis 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 411641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 Ocular cystinosis 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 Arginine vasopressin resistance-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 Arginine vasopressin resistance 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 688581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Malformation syndrome 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 Clinical group 231214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 Beta-thalassemia major Disease 231222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 Beta-thalassemia intermedia Disease 715143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene Disease 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 688649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688649 Isolated adrenal medullary hyperplasia Disease 693839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 Renal arteriovenous malformation Malformation syndrome 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 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 664912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664912 Neonatal renal venous thrombosis Disease