Nephrological Diseases Category (1378 diseases)


Including: Nephrological, Kidney, Bladder, Urinary, Renal
See other categories (disease lists)

# Family MCID Name MIFTS
1 P MPL001 Maple Syrup Urine Disease 66
2 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57
3 P BLD134 Bladder Cancer 70
4 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 67
5 PPL048 Papillorenal Syndrome 50
6 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 39
7 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 31
8 P HYP761 Hypouricemia, Renal, 1 41
9 DNB001 Danubian Endemic Familial Nephropathy 47
10 c HYP534 Hypomagnesemia 3, Renal 37
11 PRL032 Perlman Syndrome 51
12 P DNT020 Dent Disease 1 59
13 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 41
14 IGG001 Iga Glomerulonephritis 58
15 CNG116 Congenital Nephrotic Syndrome Finnish Type 19
16 P HYP210 Hypomagnesemia 2, Renal 35
17 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 57
18 HMT008 Hematuria, Benign Familial 50
19 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 17
20 SML031 Small Cell Carcinoma of the Bladder 38
21 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 31
22 c WLM013 Wilms Tumor 1 65
23 P MMB011 Membranous Nephropathy 58
24 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 55
25 P HRD009 Hereditary Wilms' Tumor 38
26 c MCK030 Meckel Syndrome, Type 7 37
27 c WLM005 Wilms Tumor 2 28
28 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
29 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 23
30 c WLM017 Wilms Tumor 4 18
31 c WLM015 Wilms Tumor 3 15
32 c FML094 Familial Wilms Tumor 2 7
33 NRG002 Neurogenic Bladder 53
34 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 29
35 RNL051 Renal Cysts and Diabetes Syndrome 54
36 P KDN018 Kidney Disease 68
37 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 43
38 c MCR113 Microvascular Complications of Diabetes 3 57
39 EXS017 Exstrophy of Bladder 49
40 P RNL100 Renal Hypodysplasia/aplasia 1 59
41 RNL024 Renal Glucosuria 53
42 BLD044 Bladder Disease 51
43 P URF003 Urofacial Syndrome 1 50
44 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 25
45 LPD004 Lipoid Nephrosis 51
46 P SNR003 Senior-Loken Syndrome 1 55
47 P AML002 Amelogenesis Imperfecta 46
48 P GLL032 Galloway-Mowat Syndrome 45
49 c GLL038 Galloway-Mowat Syndrome 1 40
50 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 37
51 c AML061 Amelogenesis Imperfecta, Type Ie 35
52 c BKV001 Bk-Virus Nephropathy 26
53 c GLL040 Galloway-Mowat Syndrome 3 24
54 c GLL041 Galloway-Mowat Syndrome 4 22
55 c GLL042 Galloway-Mowat Syndrome 5 22
56 c AML050 Amelogenesis Imperfecta, Type if 20
57 c AML018 Amelogenesis Imperfecta, Type Ic 19
58 c GLL043 Galloway-Mowat Syndrome 2 8
59 NPH091 Nephrolithiasis, Calcium Oxalate 60
60 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 37
61 BLD131 Bladder Urothelial Carcinoma 62
62 URN009 Urinary System Disease 49
63 P RNL028 Renal Tubular Dysgenesis 48
64 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
65 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 25
66 CYS036 Cystinosis, Nephropathic 52
67 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
68 RNL039 Renal Dysplasia-Limb Defects Syndrome 27
69 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 22
70 c CHR089 Chronic Kidney Failure 73
71 CKT002 Cakut 42
72 c RNL113 Renal Failure, Progressive, with Hypertension 31
73 c FCL082 Focal Segmental Glomerulosclerosis 4 22
74 MLT033 Multicentric Osteolysis Nephropathy 10
75 BLD029 Bladder Dome Cancer 8
76 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 6
77 c WLM011 Wilms Tumor 6 48
78 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23
79 SPR001 Superficial Urinary Bladder Cancer 29
80 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 23
81 HMR004 Hemorrhagic Fever with Renal Syndrome 61
82 P RNL007 Renal Tubular Acidosis 52
83 ADN024 Adenine Phosphoribosyltransferase Deficiency 50
84 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 38
85 BLD049 Bladder Transitional Cell Papilloma 37
86 LWC001 Low Compliance Bladder 32
87 NPH002 Nephrogenic Adenoma of Urinary Bladder 24
88 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 23
89 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 23
90 c HYP302 Hypomagnesemia 4, Renal 18
91 BLD026 Bladder Trigone Cancer 8
92 PRS055 Pierson Syndrome 42
93 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
94 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 24
95 c HYP376 Hypouricemia, Renal, 2 19
96 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 10
97 c ACT068 Acute Cystitis 56
98 P IGN003 Iga Nephropathy 1 40
99 c BLD008 Bladder Carcinoma in Situ 39
100 BLD047 Bladder Squamous Cell Carcinoma 39
101 c NPH072 Nephrotic Syndrome, Type 7 29
102 c CHR087 Chronic Cystitis 29
103 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
104 RRM005 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 11
105 P RNL017 Renal Oncocytoma 48
106 RNL018 Renal Pelvis Carcinoma 37
107 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 31
108 JBR007 Joubert Syndrome with Renal Anomalies 31
109 P RNL115 Renal Tubular Acidosis, Proximal 29
110 URN022 Urinary Tract Infections, Recurrent 28
111 NPH078 Nephrolithiasis, Uric Acid 24
112 c HYP445 Hypomagnesemia 6, Renal 19
113 BRC111 Brachymesomelia-Renal Syndrome 15
114 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 10
115 URN005 Urinary Bladder Villous Adenoma 7
116 JWT001 Jewett-Marshall Bladder Cancer 7
117 NPH003 Nephrocalcinosis 51
118 URN003 Urinary Schistosomiasis 50
119 c CNG029 Congenital Mesoblastic Nephroma 43
120 c MCR112 Microvascular Complications of Diabetes 2 42
121 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 28
122 BLD025 Bladder Sarcoma 24
123 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
124 P NPH012 Nephrotic Syndrome 59
125 BLD009 Bladder Neck Obstruction 38
126 RNL094 Renal Dysplasia, Cystic 38
127 OLG021 Oligomeganephronia 35
128 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 19
129 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 19
130 THY044 Thymic-Renal-Anal-Lung Dysplasia 16
131 c RNL122 Renal Hypodysplasia/aplasia 3 49
132 P RNL045 Renal Tubular Acidosis, Distal 45
133 c BRN131 Branchiootorenal Syndrome 1 39
134 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 35
135 ACT043 Acute Urate Nephropathy 27
136 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 25
137 CHR176 Chromophil Renal Cell Carcinoma 24
138 BLD046 Bladder Papillary Transitional Cell Neoplasm 23
139 APM002 Aapoai Amyloidosis 15
140 APM001 Aapoaii Amyloidosis 13
141 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
142 BLD003 Bladder Lateral Wall Cancer 11
143 PLY043 Polyomavirus Allograft Nephropathy 10
144 SPL022 Split Hand Urinary Anomalies Spina Bifida 8
145 URN004 Urinary Bladder Inverted Papilloma 7
146 BLD027 Bladder Neck Cancer 7
147 HST012 Histidinuria Renal Tubular Defect 6
148 P URN007 Urinary Bladder Anterior Wall Cancer 6
149 c URN006 Urinary Bladder Posterior Wall Cancer 6
150 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
151 RDR001 Radio Renal Syndrome 5
152 CYS013 Cystinuria 65
153 CYS039 Cystic Kidney Disease 54
154 PRN038 Prune Belly Syndrome 49
155 c MCR120 Microvascular Complications of Diabetes 7 44
156 c MCR130 Microvascular Complications of Diabetes 6 43
157 c MCR133 Microvascular Complications of Diabetes 4 43
158 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 41
159 c NPH075 Nephronophthisis 18 36
160 NPH037 Nephronophthisis-Like Nephropathy 1 28
161 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 59
162 NPH009 Nephrolithiasis 57
163 OBS082 Obstructive Nephropathy 51
164 P RNL015 Renal Hypertension 50
165 NPH010 Nephrosclerosis 45
166 RNL021 Renal Tubular Transport Disease 30
167 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 25
168 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 22
169 BLD023 Bladder Leiomyoma 19
170 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
171 DNT019 Daentl Towsend Siegel Syndrome 12
172 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 9
173 P FNC004 Fanconi Syndrome 50
174 ACT003 Acute Kidney Tubular Necrosis 44
175 RNL097 Renal Artery Disease 42
176 FML029 Familial Renal Papillary Carcinoma 40
177 c FNC059 Fanconi-Like Syndrome 39
178 RNL012 Renal Tuberculosis 39
179 c NPH077 Nephronophthisis 19 37
180 INV004 Invasive Bladder Transitional Cell Carcinoma 37
181 NPH001 Nephrogenic Adenoma 34
182 BLD028 Bladder Lymphoma 33
183 BLD045 Bladder Diverticulum 33
184 HNM002 Hinman Syndrome 32
185 BLD041 Bladder Calculus 29
186 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 26
187 RNL008 Renal Artery Atheroma 26
188 c PRM200 Primary Fanconi Syndrome 20
189 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 19
190 BLD065 Blue Diaper Syndrome 19
191 c RNL099 Renal Hypodysplasia/aplasia 2 19
192 RDL030 Radial-Renal Syndrome 19
193 RNL019 Renal Pelvis Transitional Cell Carcinoma 18
194 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
195 c MLG055 Malignant Cystic Nephroma 15
196 AFB003 Afib Amyloidosis 14
197 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
198 P BNG003 Benign Hypertensive Renal Disease 7
199 ACR045 Acro-Pectoro-Renal Field Defect 6
200 BLD022 Bladder Flat Intraepithelial Lesion 5
201 INB002 Inborn Renal Aminoaciduria 5
202 c VSC019 Vesicoureteral Reflux 1 59
203 P CYS007 Cystic Nephroma 40
204 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 33
205 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
206 KDN006 Kidney Papillary Necrosis 31
207 c DNT021 Dent Disease 2 27
208 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
209 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 25
210 P C1Q005 C1q Nephropathy 24
211 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
212 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
213 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
214 CRM007 Crome Syndrome 19
215 c IGN004 Iga Nephropathy 3 17
216 BLD030 Bladder Tuberculosis 16
217 RNL078 Renal Dysplasia 47
218 IMN001 Iminoglycinuria 45
219 P FNC026 Fanconi Renotubular Syndrome 1 32
220 P MDL008 Medullary Cystic Kidney Disease 1 31
221 LWR004 Lower Urinary Tract Calculus 26
222 STN006 Steinfeld Syndrome 25
223 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
224 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 20
225 c FNC049 Fanconi Renotubular Syndrome 3 19
226 c BRN086 Branchiootorenal Syndrome 2 19
227 c FNC034 Fanconi Renotubular Syndrome 2 18
228 BTM003 Beta-Aminoisobutyric Aciduria 15
229 P GLL020 Gallbladder Disease 63
230 END030 End Stage Renal Failure 59
231 URN010 Urinary Tract Obstruction 57
232 FRS002 Frasier Syndrome 55
233 SCN001 Secondary Hyperparathyroidism of Renal Origin 52
234 c GLL024 Gallbladder Disease 1 51
235 HYP348 Hyperglycinuria 38
236 HYP114 Hypertensive Nephropathy 32
237 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 30
238 P HRD020 Hereditary Renal Cell Carcinoma 29
239 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 28
240 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 27
241 RNL013 Renal Adenoma 24
242 PLY179 Polyomavirus-Associated Nephropathy 22
243 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
244 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
245 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 19
246 c URF002 Urofacial Syndrome 2 19
247 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 19
248 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
249 c IGN002 Iga Nephropathy 2 17
250 BLT020 Bilateral Multicystic Dysplastic Kidney 17
251 ERY007 Erythropoietin Polycythemia 16
252 c RNL117 Renal Tubular Acidosis Iii 15
253 NPH008 Nephrogenic Adenoma of the Urethra 15
254 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 15
255 HST019 Histidinuria Due to a Renal Tubular Defect 14
256 BLR029 Biliary Malformation with Renal Tubular Insufficiency 13
257 MLT112 Multiloculated Renal Cyst 12
258 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
259 RNL036 Renal Dysplasia Diffuse Cystic 10
260 c CNG407 Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization 10
261 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
262 NNN004 Non-Invasive Bladder Urothelial Carcinoma 9
263 URT023 Ureteric Orifice Cancer 9
264 BTM002 Beta-Amino Acids, Renal Transport of 7
265 URN021 Urinary Bladder, Atony of 7
266 LNG042 Langer Nishino Yamaguchi Syndrome 6
267 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
268 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
269 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 6
270 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 6
271 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 6
272 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 6
273 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
274 BLD011 Bladder Verrucous Squamous Cell Carcinoma 6
275 JJN005 Jejunal Atresia with Renal Adysplasia 6
276 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
277 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 6
278 BLD012 Bladder Urothelial Papillary Carcinoma 5
279 c BLT012 Bilateral Renal Agenesis Dominant Type 5
280 NNR001 Non-Renal Secondary Hyperparathyroidism 5
281 STN004 Stone in Bladder Diverticulum 5
282 NNT002 Neonatal Urinary Tract Infectious Disease 5
283 DBL008 Double Uterus-Hemivagina-Renal Agenesis 4
284 OCL029 Oculo Skeletal Renal Syndrome 3
285 ISC007 Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency 3
286 P MCR115 Microvascular Complications of Diabetes 5 70
287 P CYS018 Cystitis 58
288 URM002 Uremia 52
289 ANR004 Anuria 49
290 URT031 Ureteral Disease 43
291 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
292 c BLD040 Bladder Benign Neoplasm 24
293 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 24
294 WBB001 Webb-Dattani Syndrome 22
295 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 20
296 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 18
297 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 18
298 MPL011 Maple Syrup Urine Disease, Mild Variant 11
299 ACT006 Acute Gonococcal Cystitis 10
300 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
301 INT067 Interstitial Nephritis 49
302 KRN001 Korean Hemorrhagic Fever 44
303 MLT084 Multicystic Dysplastic Kidney 38
304 URT004 Urethral Syndrome 37
305 RNL025 Renal Hypoplasia 37
306 PYR004 Pyuria 35
307 KDN001 Kidney Cortex Necrosis 29
308 c CRN110 Cranioectodermal Dysplasia 3 26
309 c CRN111 Cranioectodermal Dysplasia 4 24
310 c FCL043 Focal Segmental Glomerulosclerosis 6 23
311 THV001 Thauvin-Robinet-Faivre Syndrome 22
312 BRN134 Brain Malformations with or Without Urinary Tract Defects 22
313 c MDL021 Medullary Cystic Kidney Disease 2 21
314 BLT024 Bilateral Renal Aplasia 21
315 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 20
316 BRK013 Birk-Landau-Perez Syndrome 19
317 c VSC046 Vesicoureteral Reflux 8 18
318 c VSC025 Vesicoureteral Reflux 3 18
319 c VSC020 Vesicoureteral Reflux 2 16
320 CFH006 Cfhr5 Deficiency 15
321 SQL002 Squalene Synthase Deficiency 9
322 MCR366 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 8
323 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 5
324 c PRC016 Pre-Eclampsia 60
325 P ECL001 Eclampsia 57
326 LMY014 Leiomyoma, Uterine 56
327 c SVR005 Severe Pre-Eclampsia 56
328 c FCL025 Focal Segmental Glomerulosclerosis 1 55
329 PRS129 Prostatic Hyperplasia, Benign 51
330 INV006 Inverted Papilloma 50
331 RNL077 Renal Fibrosis 50
332 KDN015 Kidney Angiomyolipoma 47
333 FML031 Female Stress Incontinence 38
334 NPH006 Nephrogenic Adenofibroma 34
335 c KDN016 Kidney Benign Neoplasm 32
336 CLL007 Cellular Congenital Mesoblastic Nephroma 30
337 CLR112 Clear Cell Papillary Renal Cell Carcinoma 30
338 RNL001 Renal Artery Obstruction 29
339 P ADL014 Adult Mesoblastic Nephroma 28
340 IMP003 Impaired Renal Function Disease 27
341 P RNL123 Renal Agenesis, Bilateral 26
342 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 24
343 HYP683 Hypogonadism-Cataract Syndrome 23
344 c MLG004 Malignant Hypertensive Renal Disease 23
345 EPT005 Epithelial Predominant Wilms' Tumor 23
346 c INT262 Intermediate Maple Syrup Urine Disease 23
347 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 22
348 URC005 Urachal Cyst 21
349 c SNR016 Senior-Loken Syndrome 9 21
350 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 20
351 c FCL027 Focal Segmental Glomerulosclerosis 3 20
352 TFR002 Tafro Syndrome 20
353 BRN121 Branchiootorenal/branchiootic Syndrome 20
354 c FCL026 Focal Segmental Glomerulosclerosis 2 20
355 c FCL085 Focal Segmental Glomerulosclerosis 7 20
356 FRS010 Forsythe-Wakeling Syndrome 19
357 c WLM018 Wilms Tumor 5 19
358 c FCL028 Focal Segmental Glomerulosclerosis 5 19
359 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 19
360 c FML028 Familial Renal Oncocytoma 18
361 c SNR005 Senior-Loken Syndrome 5 18
362 KDN004 Kidney Hemangiopericytoma 18
363 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
364 UNL014 Unilateral Multicystic Dysplastic Kidney 18
365 NLP003 Nail-Patella-Like Renal Disease 17
366 MLY011 Maleylacetoacetate Isomerase Deficiency 17
367 MTH075 Methionine Malabsorption Syndrome 16
368 NPH097 Nephrosialidosis 16
369 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 16
370 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
371 RNL109 Renal Hypoplasia, Bilateral 15
372 GLM024 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 15
373 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 13
374 TBL026 Tubulocystic Renal Cell Carcinoma 13
375 RNL116 Renal and Mullerian Duct Hypoplasia 13
376 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 13
377 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 13
378 SNR014 Senior-Boichis Syndrome 13
379 PX2001 Pax2-Related Disorder 13
380 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
381 SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 12
382 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
383 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12
384 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 10
385 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
386 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
387 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
388 c KDN012 Kidney Carcinoma in Situ 9
389 STR009 Stromal Predominant Kidney Wilms' Tumor 9
390 RNL107 Renal Dysplasia, Bilateral 9
391 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 9
392 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
393 BLS005 Blastema Predominant Kidney Wilms' Tumor 8
394 NPH050 Nephropathy, Progressive, with Deafness 8
395 MXD009 Mixed Cell Type Kidney Wilms' Tumor 8
396 RNL010 Renal Pelvis Inverted Papilloma 8
397 CHL044 Childhood Kidney Angiomyolipoma 8
398 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
399 CNG337 Congenital Renal Artery Stenosis 7
400 RNL106 Renal Dysplasia, Unilateral 7
401 RNL108 Renal Hypoplasia, Unilateral 6
402 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
403 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
404 KLL010 Kallikrein, Decreased Urinary Activity of 6
405 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 6
406 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
407 HRD003 Hereditary Conventional Renal Cell Carcinoma 6
408 CLS004 Classic Congenital Mesoblastic Nephroma 5
409 BLD050 Bladder Urachal Carcinoma 5
410 BLD004 Bladder Urachal Urothelial Carcinoma 5
411 DRG019 Drug-Related Renal Tubular Dysgenesis 5
412 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
413 c RNL049 Renal Tubular Acidosis, Distal, Type 4 5
414 SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
415 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 5
416 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 5
417 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
418 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 5
419 RNL020 Renal Pelvis Urothelial Papilloma 4
420 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
421 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
422 BLD024 Bladder Squamous Papilloma 4
423 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
424 SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
425 NPH099 Nephropathy, Chronic Tubulointerstitial 3
426 PLM171 Pulmonic Stenosis and Congenital Nephrosis 3
427 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 3
428 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
429 GLY095 Glycoprotein, Renal 3
430 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
431 RNL030 Renal Adysplasia Dominant Type 2
432 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 2
433 RNL031 Renal Agenesis Meningomyelocele Mullerian Defect 2
434 c SYS001 Systemic Lupus Erythematosus 88
435 MYL069 Myeloma, Multiple 85
436 P FNC027 Fanconi Anemia, Complementation Group a 82
437 P NNN008 Noonan Syndrome 1 79
438 P SRC025 Sarcoidosis 1 76
439 P NRF023 Neurofibromatosis, Type Ii 75
440 BHC003 Behcet Syndrome 73
441 VNH007 Von Hippel-Lindau Syndrome 72
442 P ALG028 Alagille Syndrome 1 72
443 FBR012 Fabry Disease 72
444 P SYS005 Systemic Scleroderma 69
445 P TRN020 Turner Syndrome 69
446 P LPS004 Lupus Erythematosus 69
447 SMT004 Smith-Lemli-Opitz Syndrome 69
448 P TMP003 Temporal Arteritis 69
449 P PSD087 Pseudoxanthoma Elasticum 68
450 P AMY004 Amyloidosis 68
451 GRN037 Granulomatosis with Polyangiitis 68
452 c TBR026 Tuberous Sclerosis 2 67
453 LWC002 Lowe Oculocerebrorenal Syndrome 67
454 c GLY008 Glycogen Storage Disease Ii 66
455 P HML033 Hemolytic Uremic Syndrome, Atypical 1 66
456 P THL005 Thalassemia 65
457 WLL001 Williams-Beuren Syndrome 63
458 P MCK013 Meckel Syndrome, Type 1 62
459 LSC001 Lesch-Nyhan Syndrome 62
460 ALP103 Alpha-1-Antitrypsin Deficiency 61
461 GT001 Gout 60
462 P GLY013 Glycogen Storage Disease 60
463 c PRT132 Protoporphyria, Erythropoietic, 1 60
464 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
465 c NNN010 Noonan Syndrome 3 59
466 P CRN108 Cranioectodermal Dysplasia 1 59
467 PRP032 Porphyria Variegata 57
468 GDP001 Goodpasture Syndrome 56
469 P PYL005 Pyelonephritis 56
470 P HYP726 Hypercalcemia, Infantile, 1 55
471 CPR004 Coproporphyria, Hereditary 55
472 c OST163 Osteopetrosis, Autosomal Recessive 3 55
473 PLV003 Pelvic Inflammatory Disease 55
474 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
475 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 54
476 RGH009 Right Atrial Isomerism 54
477 P PRM002 Primary Hyperoxaluria 53
478 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 52
479 P DBT005 Diabetes Insipidus 52
480 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
481 c FNC042 Fanconi Anemia, Complementation Group D2 52
482 PRP082 Porphyria, Congenital Erythropoietic 52
483 HYP741 Hyperparathyroidism 2 with Jaw Tumors 52
484 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
485 CTY001 Cat Eye Syndrome 51
486 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
487 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
488 P RNV001 Renovascular Hypertension 50
489 HYD002 Hydronephrosis 49
490 P TYR004 Tyrosinemia 49
491 IDP073 Idiopathic Hypercalciuria 49
492 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
493 P FNC044 Fanconi Anemia, Complementation Group C 49
494 c NNN012 Noonan Syndrome 5 48
495 c BRD044 Bardet-Biedl Syndrome 17 48
496 VTR016 Vater/vacterl Association 48
497 P RPD001 Rapidly Progressive Glomerulonephritis 48
498 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
499 BCT004 Bacteriuria 48
500 LPP002 Lipoprotein Glomerulopathy 47
501 HYP347 Hypotonia-Cystinuria Syndrome 47
502 HRT031 Hartnup Disorder 47
503 c ACT042 Acute Pyelonephritis 47
504 P PSD003 Pseudohypoaldosteronism 47
505 CRS001 Crescentic Glomerulonephritis 45
506 P PRL003 Proliferative Glomerulonephritis 45
507 c GLY023 Glycogen Storage Disease Type 0 45
508 P MYG005 Myoglobinuria 45
509 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
510 c SYS043 Systemic Lupus Erythematosus 1 45
511 c FNC047 Fanconi Anemia, Complementation Group Q 44
512 c BRD033 Bardet-Biedl Syndrome 13 44
513 c MCK012 Meckel Syndrome, Type 6 44
514 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
515 c NNN009 Noonan Syndrome 2 44
516 c FNC058 Fanconi Anemia, Complementation Group R 44
517 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 43
518 c BRD048 Bardet-Biedl Syndrome 18 43
519 URT001 Urethritis 43
520 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
521 c TYR011 Tyrosinemia, Type Iii 43
522 c FNC056 Fanconi Anemia, Complementation Group V 42
523 c FNC052 Fanconi Anemia, Complementation Group T 42
524 PRS042 Prostate Disease 42
525 P XNT004 Xanthinuria 42
526 c BRD035 Bardet-Biedl Syndrome 15 42
527 c GLY098 Glycogen Storage Disease, Type Ixd 42
528 c FNC025 Fanconi Anemia, Complementation Group J 41
529 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
530 c FNC045 Fanconi Anemia, Complementation Group F 41
531 c FNC029 Fanconi Anemia, Complementation Group I 41
532 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
533 c CTR130 Cataract 9, Multiple Types 41
534 c FNC057 Fanconi Anemia, Complementation Group U 41
535 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
536 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
537 HMR023 Hemorrhagic Cystitis 41
538 PDT035 Pediatric Systemic Lupus Erythematosus 40
539 c FNC032 Fanconi Anemia, Complementation Group B 40
540 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
541 EPS026 Epispadias 40
542 c NNN011 Noonan Syndrome 4 40
543 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
544 CLC011 Cloacal Exstrophy 39
545 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
546 c TYP024 Type Ii Mixed Cryoglobulinemia 39
547 c NNN013 Noonan Syndrome 6 39
548 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
549 HYP550 Hypomagnesemia 1, Intestinal 39
550 c BRD032 Bardet-Biedl Syndrome 14 39
551 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
552 c CTR118 Cataract 14, Multiple Types 39
553 URT016 Urethral Diverticulum 38
554 c FNC023 Fanconi Anemia, Complementation Group N 38
555 c CTR115 Cataract 16, Multiple Types 38
556 URT020 Ureterocele 38
557 c CHR098 Chronic Pyelonephritis 38
558 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
559 c OST126 Osteopetrosis, Autosomal Recessive 1 38
560 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
561 c FNC028 Fanconi Anemia, Complementation Group L 37
562 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
563 c CTR170 Cataract 30, Multiple Types 37
564 P ANT061 Antenatal Bartter Syndrome 37
565 ANT002 Anti-Basement Membrane Glomerulonephritis 37
566 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
567 c MCK014 Meckel Syndrome, Type 5 37
568 c CTR098 Cataract 1, Multiple Types 37
569 c CNG188 Congenital Disorder of Glycosylation, Type if 36
570 c NNN021 Noonan Syndrome 8 36
571 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
572 c ATM045 Autoimmune Glomerulonephritis 36
573 INF159 Infantile Sialic Acid Storage Disease 36
574 c BRD045 Bardet-Biedl Syndrome 19 36
575 c NNN024 Noonan Syndrome 9 36
576 CYS003 Cystitis Cystica 35
577 c CTR122 Cataract 5, Multiple Types 35
578 c CNG379 Congenital Disorder of Glycosylation, Type It 35
579 c AML020 Amelogenesis Imperfecta, Type Iv 35
580 c MCK033 Meckel Syndrome, Type 4 35
581 c FNC048 Fanconi Anemia, Complementation Group O 35
582 c CHR020 Chronic Interstitial Cystitis 35
583 c BRD047 Bardet-Biedl Syndrome 16 35
584 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
585 c CTR174 Cataract 40 34
586 c HRD142 Hereditary Xanthinuria 34
587 c CTR103 Cataract 4, Multiple Types 34
588 URT014 Ureterolithiasis 34
589 c CTR141 Cataract 21, Multiple Types 34
590 PYL004 Pyelitis 33
591 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
592 MTN001 Metanephric Adenoma 33
593 URT037 Urethral Stricture 33
594 KLL014 Kelley-Seegmiller Syndrome 33
595 c MCK034 Meckel Syndrome, Type 8 33
596 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
597 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
598 c PRP091 Porphyria Cutanea Tarda, Type I 33
599 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
600 c AML057 Amelogenesis Imperfecta, Type Iiia 33
601 PRN007 Perinephritis 33
602 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
603 c CTR125 Cataract 7 33
604 c AML017 Amelogenesis Imperfecta, Type Ib 33
605 RDT001 Radiation Cystitis 32
606 XNT001 Xanthogranulomatous Pyelonephritis 32
607 c CTR145 Cataract 44 32
608 OSC001 Oeis Complex 32
609 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
610 c ACT079 Acute Proliferative Glomerulonephritis 31
611 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
612 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
613 c NNN025 Noonan Syndrome 10 31
614 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
615 c CTR158 Cataract 37 31
616 c CRN109 Cranioectodermal Dysplasia 2 31
617 EXD002 Exudative Glomerulonephritis 30
618 c GLY057 Glycogen Storage Disease X 30
619 DFF015 Diffuse Glomerulonephritis 30
620 TRG001 Trigonitis 30
621 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
622 c RBN008 Rubinstein-Taybi Syndrome 2 29
623 c GLY017 Glycogen Storage Disease Ic 29
624 c NPH102 Nephrotic Syndrome, Type 14 29
625 c CTR175 Cataract 24 29
626 c NNN020 Noonan Syndrome 7 29
627 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
628 ACT040 Acute Poststreptococcal Glomerulonephritis 28
629 c CTR121 Cataract 25 28
630 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
631 ORT001 Orthostatic Proteinuria 28
632 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
633 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
634 c FNC062 Fanconi Anemia, Complementation Group S 28
635 c CTR124 Cataract 10, Multiple Types 27
636 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
637 c HYP603 Hyperoxaluria, Primary, Type Iii 27
638 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
639 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
640 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 26
641 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 26
642 c OST120 Osteopetrosis, Autosomal Recessive 5 26
643 c BRD050 Bardet-Biedl Syndrome 21 26
644 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
645 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26
646 KDN013 Kidney Hypertrophy 26
647 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
648 c CTR166 Cataract 33, Multiple Types 26
649 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 26
650 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
651 c MCK028 Meckel Syndrome 13 26
652 c SYS069 Systemic Lupus Erythematosus 6 25
653 c GLY001 Glycogen Storage Disease Ix 25
654 VCT004 Vacterl Association with Hydrocephalus 25
655 c MLG003 Malignant Renovascular Hypertension 25
656 c MCK035 Meckel Syndrome, Type 10 25
657 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
658 c BRD051 Bardet-Biedl Syndrome 20 24
659 SDH011 Sedoheptulokinase Deficiency 24
660 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
661 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24
662 c SYS066 Systemic Polyarteritis Nodosa 24
663 c SYS038 Systemic Lupus Erythematosus 2 23
664 HYP481 Hyperbiliverdinemia 23
665 c CTR180 Cataract 22, Multiple Types 23
666 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
667 c CTR131 Cataract 17, Multiple Types 23
668 c LDD008 Liddle Syndrome 2 23
669 P ACR072 Acrorenal Syndrome 23
670 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
671 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
672 KDN009 Kidney Fibrosarcoma 22
673 c CTR165 Cataract 19, Multiple Types 22
674 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
675 c CTR184 Cataract 39, Multiple Types 22
676 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
677 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
678 c MCK036 Meckel Syndrome, Type 9 22
679 c FNC061 Fanconi Anemia, Complementation Group W 22
680 c CTR116 Cataract 15, Multiple Types 22
681 c HML035 Hemolytic Uremic Syndrome, Atypical 2 21
682 c SBC010 Subacute Glomerulonephritis 21
683 c CTR182 Cataract 23, Multiple Types 21
684 c AML047 Amelogenesis Imperfecta, Type Ia 21
685 MSC089 Mosaic Monosomy X 21
686 c CTR105 Cataract 12, Multiple Types 21
687 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
688 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
689 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 21
690 c CTR163 Cataract 46, Juvenile-Onset 21
691 c CTR159 Cataract 35 21
692 c SNR011 Senior-Loken Syndrome 3 21
693 c SNR015 Senior-Loken Syndrome 8 21
694 c MCK020 Meckel Syndrome, Type 11 21
695 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
696 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 20
697 c AML048 Amelogenesis Imperfecta, Type Ih 20
698 c CTR183 Cataract 38 20
699 c SNR004 Senior-Loken Syndrome 4 20
700 c CTR097 Cataract 34, Multiple Types 20
701 c SNR007 Senior-Loken Syndrome 7 20
702 c TWN010 Townes-Brocks Syndrome 2 20
703 c CTR111 Cataract 36 20
704 c CTR136 Cataract 41 20
705 c FCL055 Focal Segmental Glomerulosclerosis 9 20
706 c CTR178 Cataract 27 20
707 c PRM150 Primary Localized Amyloidosis 20
708 THY105 Thyrocerebroretinal Syndrome 19
709 HVY003 Heavy Chain Deposition Disease 19
710 c SYS046 Systemic Lupus Erythematosus 3 19
711 c PLY141 Polycystic Kidney Disease 5 19
712 c FCL053 Focal Segmental Glomerulosclerosis 8 19
713 c CTR139 Cataract 42 19
714 c TRN053 Transient Pseudohypoaldosteronism 19
715 c PSD068 Pseudohypoaldosteronism, Type Iic 19
716 c CTR110 Cataract 26, Multiple Types 19
717 c PSD094 Pseudohypoaldosteronism, Type Iib 18
718 c ACQ034 Acquired Central Diabetes Insipidus 18
719 c AHM002 Ah Amyloidosis 18
720 c SNR006 Senior-Loken Syndrome 6 18
721 c CTR106 Cataract 20, Multiple Types 18
722 c HYP712 Hypercalcemia, Infantile, 2 18
723 c CTR144 Cataract 43 18
724 c SYS051 Systemic Lupus Erythematosus 4 18
725 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 18
726 c CTR157 Cataract 28 18
727 c CTR185 Cataract 30 18
728 c CTR160 Cataract 45 18
729 c HRD156 Hereditary Central Diabetes Insipidus 18
730 c GLY093 Glycogen Storage Disease Ixa 17
731 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
732 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
733 c CTR128 Cataract 33 17
734 c SYS053 Systemic Lupus Erythematosus 5 17
735 ATR053 Atresia of Urethra 16
736 c SYS040 Systemic Lupus Erythematosus 10 16
737 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 16
738 CNG330 Congenital Megacalycosis 16
739 c AML056 Amelogenesis Imperfecta, Type Iiib 16
740 c SYS041 Systemic Lupus Erythematosus 9 15
741 c SYS055 Systemic Lupus Erythematosus 12 15
742 IGG011 Igg4-Related Kidney Disease 15
743 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 15
744 c PRT135 Protoporphyria, Erythropoietic, 2 15
745 c SYS047 Systemic Lupus Erythematosus 7 15
746 PTN009 Patent Urachus 15
747 c ACQ026 Acquired Pseudoxanthoma Elasticum 15
748 c SYS065 Systemic Lupus Erythematosus 11 15
749 c SRC024 Sarcoidosis 3 14
750 P CNG326 Congenital Primary Megaureter 14
751 LGH014 Light and Heavy Chain Deposition Disease 14
752 GNR029 Generalized Galactose Epimerase Deficiency 14
753 CLL035 Collagen Type Iii Glomerulopathy 14
754 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
755 c SYS052 Systemic Lupus Erythematosus 13 13
756 c SYS048 Systemic Lupus Erythematosus 8 13
757 c SYS045 Systemic Lupus Erythematosus 14 13
758 PHS019 Phosphohydroxylysinuria 13
759 c MXD037 Mixed Cryoglobulinemia Type Iii 13
760 APV001 Aapoaiv Amyloidosis 12
761 c SYS067 Systemic Lupus Erythematosus 15 12
762 P ANT062 Anterior Urethral Valve 12
763 URC013 Urachal Diverticulum 12
764 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
765 c PRM222 Primary Polyarteritis Nodosa 12
766 c AML063 Amelogenesis Imperfecta Type 2a1 12
767 ACT041 Acute Diffuse Nephritis 11
768 KDN014 Kidney Leiomyosarcoma 11
769 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
770 URC012 Urachal Sinus 10
771 PYL001 Pyeloureteritis Cystica 10
772 CHR082 Chromophil Adenoma of the Kidney 10
773 MGC005 Megacystis-Megaureter Syndrome 10
774 c PLY176 Polycystic Kidney Disease 4 9
775 c LDD009 Liddle Syndrome 3 9
776 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
777 KDN005 Kidney Liposarcoma 8
778 MXD010 Mixed Epithelial Stromal Tumour 8
779 KDN003 Kidney Lipoma 8
780 c SCN055 Secondary Polyarteritis Nodosa 8
781 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
782 P JVN036 Juvenile Sialidosis Type 2 7
783 c CNG348 Congenital Sialidosis Type 2 7
784 DCT001 Dioctophymiasis 7
785 SNG013 Single-Organ Polyarteritis Nodosa 7
786 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 7
787 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
788 MTC002 Metachronous Kidney Wilms' Tumor 6
789 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 5
790 c BRN138 Branchiootorenal Spectrum Disorder 5
791 P TYP005 Type 1 Papillary Adenoma of the Kidney 5
792 c TYP006 Type 2 Papillary Adenoma of the Kidney 5
793 CNG331 Congenital Bilateral Megacalycosis 5
794 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
795 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
796 UNL009 Unilateral Congenital Megacalycosis 5
797 c BNG028 Benign Renovascular Hypertension 4
798 NNC001 Non-Congenital Cyst of Kidney 4
799 c PRM147 Primary Megaureter, Adult-Onset Form 4
800 BNG089 Benign Metanephric Tumour 4
801 STR004 Stricture or Kinking of Ureter 4
802 BLK002 Balkan Hemorrhagic Fever 4
803 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
804 CNG269 Congenital Primary Megaureter, Refluxing Form 4
805 CNG270 Congenital Primary Megaureter, Obstructed Form 4
806 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
807 ATH002 Atheroembolism of Kidney 3
808 FCL004 Focal Embolic Glomerulonephritis 3
809 RNL065 Renal Cell Carcinoma, Papillary, 1 71
810 RNL114 Renal Cell Carcinoma, Nonpapillary 62
811 CLR030 Clear Cell Renal Cell Carcinoma 49
812 CHR177 Chromophobe Renal Cell Carcinoma 55
813 RNL119 Renal Cell Carcinoma, Xp11-Associated 35
814 P KDN017 Kidney Cancer 59
815 P INT143 Interstitial Cystitis 66
816 BLD039 Bladder Adenocarcinoma 40
817 ALP046 Alport Syndrome, X-Linked 74
818 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 15
819 BLD064 Bladder Cancer, Childhood 6
820 c ALM001 Al Amyloidosis 60
821 c AMY009 Amyloidosis Aa 56
822 c HRD039 Hereditary Amyloidosis 49
823 DNY001 Denys-Drash Syndrome 54
824 RNL011 Renal Osteodystrophy 49
825 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
826 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 18
827 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 14
828 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 26
829 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 11
830 BLD031 Bladder Signet Ring Cell Adenocarcinoma 11
831 P BRN006 Branchiootorenal Syndrome 47
832 CYS045 Cystinosis, Adult Nonnephropathic 25
833 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 21
834 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 20
835 BLD043 Bladder Clear Cell Adenocarcinoma 10
836 GTL001 Gitelman Syndrome 63
837 FNC009 Fanconi-Bickel Syndrome 55
838 RNL089 Renal Nutcracker Syndrome 22
839 RNL112 Renal, Genital, and Middle Ear Anomalies 17
840 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 7
841 c MCR129 Microvascular Complications of Diabetes 1 64
842 P FCL005 Focal Segmental Glomerulosclerosis 60
843 NPH018 Nephrogenic Systemic Fibrosis 56
844 P ALP074 Alport Syndrome, Autosomal Dominant 47
845 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
846 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
847 SLC010 Salcedo Syndrome 8
848 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 61
849 CRN239 Carnitine Deficiency, Systemic Primary 52
850 RHY001 Rhyns Syndrome 39
851 KDN007 Kidney Clear Cell Sarcoma 39
852 RNL004 Renal Pelvis Adenocarcinoma 30
853 ACR102 Acrorenal-Mandibular Syndrome 28
854 RNL009 Renal Pelvis Squamous Cell Carcinoma 17
855 DNM003 Daneman Davy Mancer Syndrome 11
856 STK001 Saito Kuba Tsuruta Syndrome 10
857 P HYP802 Hypocalcemia, Autosomal Dominant 1 67
858 TRN018 Transitional Cell Carcinoma 62
859 CYS010 Cystinosis 55
860 MDL009 Medullary Sponge Kidney 48
861 c HYP794 Hyperoxaluria, Primary, Type I 42
862 CHL010 Childhood Kidney Cell Carcinoma 41
863 SRC002 Sarcomatoid Renal Cell Carcinoma 40
864 DCR008 Dicarboxylic Aminoaciduria 38
865 MRC004 Murcs Association 32
866 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 30
867 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 26
868 URM003 Uromodulin-Associated Kidney Disease 16
869 RNL032 Renal Caliceal Diverticuli Deafness 11
870 KDN008 Kidney Pelvis Papillary Carcinoma 9
871 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 8
872 BLD014 Bladder Colonic Type Adenocarcinoma 7
873 BLD010 Bladder Colloid Adenocarcinoma 6
874 GRN023 Green Sandford Davison Syndrome 6
875 NPH025 Nephrotic Syndrome Ocular Anomalies 5
876 HST006 Histidinemia 45
877 STR094 Stromme Syndrome 32
878 c TWN011 Townes-Brocks Syndrome 1 28
879 ARD001 Aredyld 25
880 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 24
881 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
882 P PLY014 Polycystic Kidney Disease 63
883 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 62
884 LYS003 Lysinuric Protein Intolerance 53
885 c XNT010 Xanthinuria, Type I 52
886 CYS019 Cystathioninuria 43
887 c LTH008 Lethal Congenital Contracture Syndrome 2 43
888 c LTH007 Lethal Congenital Contracture Syndrome 1 37
889 PLV001 Pelvic Lipomatosis 36
890 c XNT011 Xanthinuria, Type Ii 35
891 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
892 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
893 P PNT006 Pentosuria 24
894 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
895 c ESS007 Essential Pentosuria 18
896 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 17
897 ELL004 Ellis Yale Winter Syndrome 8
898 SPT004 Septic Arthritis 61
899 HNT002 Hantavirus Pulmonary Syndrome 52
900 GLY014 Glycerol Kinase Deficiency 51
901 c MLG074 Malignant Mesenchymoma 50
902 MSN001 Mesangial Proliferative Glomerulonephritis 48
903 LGH004 Light Chain Deposition Disease 47
904 RTR011 Retroperitoneal Fibrosis 44
905 SLR001 Sialuria 44
906 FRY002 Fryns Syndrome 43
907 URT051 Ureter, Cancer of 41
908 DFF021 Diffuse Mesangial Sclerosis 40
909 c MYG007 Myoglobinuria, Recurrent 39
910 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 36
911 MLK004 Malakoplakia 35
912 KDN019 Kidney Sarcoma 35
913 P MSN006 Mesenchymoma 34
914 KDN002 Kidney Rhabdoid Cancer 34
915 c HYP602 Hyperoxaluria, Primary, Type Ii 33
916 HWK001 Hawkinsinuria 30
917 HYD030 Hydroxykynureninuria 27
918 5XP001 5-Oxoprolinase Deficiency 26
919 CMB011 Combined Malonic and Methylmalonic Aciduria 25
920 c BNG012 Benign Mesenchymoma 23
921 GLT014 Glutathionuria 23
922 HLZ001 Holzgreve Syndrome 21
923 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 21
924 VSC014 Vascular Hyalinosis 18
925 LBN003 Lubinsky Syndrome 18
926 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
927 LNP001 Loin Pain Hematuria Syndrome 15
928 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
929 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 14
930 c ADL020 Adult Malignant Mesenchymoma 12
931 URT041 Urethral Obstruction Sequence 11
932 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 10
933 c RNL048 Renal Tubular Acidosis, Distal, Type 3 10
934 VCT003 Vacterl Hydrocephaly 9
935 BLD018 Bladder Hepatoid Adenocarcinoma 7
936 BLD021 Bladder Urachal Adenocarcinoma 7
937 SLG001 Selig Benacerraf Greene Syndrome 6
938 KRN006 Karandikar Maria Kamble Syndrome 6
939 ALS004 Alsing Syndrome 5
940 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
941 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
942 GLL001 Gall Bladder Carcinoma in Situ 5
943 BNR003 Ben Ari Shuper Mimouni Syndrome 5
944 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 5
945 FRS005 Fraser Jequier Chen Syndrome 5
946 BLD017 Bladder Mixed Adenocarcinoma 4
947 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
948 ALL011 Allain-Babin-Demarquez Syndrome 4
949 GRL001 Gorlin Bushkell Jensen Syndrome 4
950 LCH006 Lachiewicz Sibley Syndrome 4
951 BLL008 Billet Bear Syndrome 3
952 NPH022 Nephropathy Familial with Hyperuricemia 3
953 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
954 TKY002 Takayasu Arteritis 67
955 ADL030 Adult-Onset Still's Disease 67
956 P END044 Endometriosis 65
957 PRP083 Porphyria, Acute Intermittent 64
958 P PLV020 Pelvic Organ Prolapse 63
959 QFV001 Q Fever 62
960 c ATS347 Autosomal Dominant Polycystic Kidney Disease 60
961 P GLM007 Glomerulonephritis 60
962 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59
963 c FML116 Familial Cold Autoinflammatory Syndrome 1 59
964 P CTR002 Cataract 58
965 NRM005 Neuromuscular Disease 58
966 MCR088 Microscopic Polyangiitis 58
967 P PLY041 Polymyositis 58
968 GRN034 Grange Syndrome 55
969 CTR172 Citrullinemia, Classic 55
970 P MGL001 Megaloblastic Anemia 54
971 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
972 P FML052 Familial Cold Autoinflammatory Syndrome 53
973 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 53
974 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
975 c BRD012 Bardet-Biedl Syndrome 11 52
976 c ACT071 Acute Kidney Failure 51
977 c NPH055 Nephrotic Syndrome, Type 1 51
978 HMG002 Hemoglobinuria 51
979 MMB001 Membranoproliferative Glomerulonephritis 51
980 c PST041 Posterior Urethral Valves 50
981 FSH001 Fish-Eye Disease 50
982 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 50
983 GLC106 Glucocorticoid Resistance, Generalized 47
984 c AML044 Amelogenesis Imperfecta, Type Ig 45
985 GLC004 Galactokinase Deficiency 45
986 c BRD011 Bardet-Biedl Syndrome 10 45
987 c BRN108 Branchiootic Syndrome 1 45
988 c BRD020 Bardet-Biedl Syndrome 8 44
989 CMP042 Complement Factor H Deficiency 44
990 TRC003 Trichomoniasis 43
991 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
992 c MCK032 Meckel Syndrome, Type 3 43
993 c ATS282 Autosomal Recessive Malignant Osteopetrosis 42
994 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
995 IMM001 Immune-Complex Glomerulonephritis 42
996 VCT001 Vacterl Association 41
997 c NPH030 Nephronophthisis 2 41
998 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
999 c NPH053 Nephronophthisis 11 41
1000 c BRD018 Bardet-Biedl Syndrome 6 41
1001 HYP236 Hyperbilirubinemia, Rotor Type 41
1002 c FNC024 Fanconi Anemia, Complementation Group D1 41
1003 P HYP733 Hypercalciuria, Absorptive, 2 40
1004 c BRD017 Bardet-Biedl Syndrome 5 40
1005 c NPH049 Nephrotic Syndrome, Type 2 40
1006 c CTR129 Cataract 31, Multiple Types 40
1007 c ADL027 Adult Dermatomyositis 39
1008 DNS007 Dense Deposit Disease 39
1009 c NPH032 Nephronophthisis 4 38
1010 BTR002 Beta-Ureidopropionase Deficiency 38
1011 c NPH031 Nephronophthisis 3 38
1012 c GLY044 Glycogen Storage Disease Ixc 38
1013 PTT002 Potter's Syndrome 37
1014 P BRN042 Branchiootic Syndrome 37
1015 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1016 c SYS061 Systemic Lupus Erythematosus 16 37
1017 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
1018 c NPH035 Nephronophthisis 9 36
1019 c GLY016 Glycogen Storage Disease Ib 36
1020 OMS001 Omsk Hemorrhagic Fever 36
1021 c NPH068 Nephronophthisis 16 36
1022 c SRC023 Sarcoidosis 2 36
1023 INT258 Interstitial Nephritis, Karyomegalic 35
1024 c NPH033 Nephronophthisis 7 34
1025 c NPH054 Nephrotic Syndrome, Type 3 34
1026 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
1027 TBS001 Tabes Dorsalis 33
1028 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1029 c NPH065 Nephronophthisis 13 32
1030 c NPH069 Nephronophthisis 15 32
1031 TBL025 Tubulointerstitial Nephritis with Uveitis 32
1032 PLY158 Polyglucosan Body Neuropathy, Adult Form 32
1033 c NPH071 Nephronophthisis 14 31
1034 c CTR102 Cataract 2, Multiple Types 31
1035 c CTR096 Cataract 6, Multiple Types 30
1036 c BRD019 Bardet-Biedl Syndrome 7 30
1037 c INF147 Infantile Nephronophthisis 30
1038 PCM002 Pauci-Immune Glomerulonephritis 30
1039 c ALG016 Alagille Syndrome 2 30
1040 MTH077 Methylmalonic Aciduria, Cbla Type 29
1041 c CTR095 Cataract 8, Multiple Types 29
1042 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1043 c GLY043 Glycogen Storage Disease Xii 29
1044 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
1045 c GLY097 Glycogen Storage Disease Ixb 29
1046 c CTR132 Cataract 3, Multiple Types 28
1047 NRS001 Neuroschistosomiasis 28
1048 c ORF046 Orofaciodigital Syndrome Xvi 28
1049 CTN019 Cutaneous Polyarteritis Nodosa 28
1050 c GLY009 Glycogen Storage Disease Xv 28
1051 c NPH047 Nephrotic Syndrome, Type 4 28
1052 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
1053 STN013 Stenotrophomonas Maltophilia Infection 27
1054 HYP648 Hypertension and Brachydactyly Syndrome 26
1055 c PSD093 Pseudohypoaldosteronism, Type Iid 26
1056 FBR085 Fibrillary Glomerulonephritis 26
1057 c BRD021 Bardet-Biedl Syndrome 9 26
1058 c ORF051 Orofaciodigital Syndrome Xvii 25
1059 c CTR169 Cataract 29 25
1060 HYP344 Hyperthyroidism, Familial Gestational 24
1061 c JVN019 Juvenile Temporal Arteritis 24
1062 c OST106 Osteopetrosis, Autosomal Recessive 8 24
1063 c ORF045 Orofaciodigital Syndrome Xv 24
1064 c CTR181 Cataract 18 24
1065 c MCK026 Meckel Syndrome 12 24
1066 c ORF052 Orofaciodigital Syndrome Xviii 24
1067 NNM007 Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 24
1068 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 23
1069 AXL004 Axial Mesodermal Dysplasia Spectrum 23
1070 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
1071 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
1072 c CTR119 Cataract 32, Multiple Types 23
1073 c CTR162 Cataract 47 22
1074 c NPH073 Nephrotic Syndrome, Type 8 22
1075 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 22
1076 c NPH067 Nephronophthisis 12 22
1077 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1078 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
1079 URM001 Uremic Neuropathy 22
1080 FCC002 Faciocardiorenal Syndrome 22
1081 c HYP708 Hyperaldosteronism, Familial, Type Iv 22
1082 c NPH074 Nephrotic Syndrome, Type 9 21
1083 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
1084 DPL007 Duplication of Urethra 21
1085 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 21
1086 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
1087 c FML344 Familial Mediterranean Fever, Autosomal Dominant 20
1088 c NPH103 Nephrotic Syndrome, Type 15 20
1089 c OST171 Osteopetrosis, Autosomal Dominant 3 20
1090 c JVN046 Juvenile Polymyositis 20
1091 c NPH096 Nephrotic Syndrome, Type 12 20
1092 c NPH095 Nephrotic Syndrome, Type 11 20
1093 c NPH086 Nephronophthisis 20 19
1094 ESN013 Eosinophilic Cystitis 19
1095 c NPH104 Nephrotic Syndrome, Type 16 18
1096 DYS180 Dyschondrosteosis and Nephritis 18
1097 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 18
1098 c NPH076 Nephrotic Syndrome, Type 10 18
1099 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
1100 c END071 Endometriosis 1 17
1101 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
1102 c NPH093 Nephrotic Syndrome, Type 13 17
1103 c CTR025 Cataract, Total Congenital 17
1104 c ORF039 Orofaciodigital Syndrome Vii 16
1105 VLN001 Valinemia 16
1106 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
1107 INF059 Infundibulopelvic Dysgenesis 15
1108 c OLV005 Olivopontocerebellar Atrophy V 14
1109 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1110 c LTN020 Late-Onset Nephronophthisis 14
1111 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 14
1112 MGL007 Megalocytic Interstitial Nephritis 14
1113 CRN057 Carnitine Palmitoyltransferase I Deficiency , Muscle 13
1114 c RNL016 Renal Infectious Disease 12
1115 c PLV014 Pelvic Organ Prolapse 2 12
1116 c HYP809 Hypercalciuria, Absorptive, 1 10
1117 c CLC009 Clcn7-Related Osteopetrosis 10
1118 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
1119 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1120 c CTR008 Cataract Congenital Autosomal Dominant 8
1121 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 8
1122 GLB017 Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 8
1123 URT019 Urethral Gland Abscess 8
1124 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1125 c ACR048 Acrorenal Syndrome Recessive 7
1126 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1127 ACT215 Actg2-Related Disorders 5
1128 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
1129 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1130 AMY082 Amyloidosis, Familial Visceral 50
1131 CLL002 Collecting Duct Carcinoma 45
1132 SCH016 Schimke Immunoosseous Dysplasia 50
1133 P MLN066 Melanoma, Cutaneous Malignant 1 66
1134 c MLN043 Melanoma, Cutaneous Malignant 8 34
1135 c MLN067 Melanoma, Cutaneous Malignant 2 20
1136 c MLN075 Melanoma, Cutaneous Malignant 3 20
1137 c MLN077 Melanoma, Cutaneous Malignant 9 18
1138 c MLN055 Melanoma, Cutaneous Malignant 10 17
1139 c MLN076 Melanoma, Cutaneous Malignant 5 16
1140 c MLN042 Melanoma, Cutaneous Malignant 6 15
1141 c MLN074 Melanoma, Cutaneous Malignant 4 15
1142 c MLN040 Melanoma, Cutaneous Malignant 7 14
1143 VSC044 Visceral Myopathy 56
1144 P TWN003 Townes-Brocks Syndrome 55
1145 MCK007 Muckle-Wells Syndrome 62
1146 ALK013 Alkaptonuria 58
1147 P HML001 Hemolytic-Uremic Syndrome 53
1148 HPT014 Hepatorenal Syndrome 50
1149 c ALP073 Alport Syndrome, Autosomal Recessive 49
1150 DNR002 Duane-Radial Ray Syndrome 46
1151 P GLM015 Glomerulopathy with Fibronectin Deposits 2 33
1152 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
1153 DBT087 Diabetes Insipidus, Neurohypophyseal 62
1154 AMN007 Aminoacylase 1 Deficiency 37
1155 SCL046 Scalp-Ear-Nipple Syndrome 36
1156 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
1157 MLT157 Multiple System Atrophy 1 74
1158 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
1159 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
1160 BRT002 Birt-Hogg-Dube Syndrome 56
1161 DNN002 Donnai-Barrow Syndrome 55
1162 P EMB005 Embryonal Rhabdomyosarcoma 53
1163 3MC003 3mc Syndrome 49
1164 P FML068 Familial Hypocalciuric Hypercalcemia 48
1165 P AMY084 Amyloidosis, Finnish Type 45
1166 c RHB023 Rhabdomyosarcoma, Embryonal, 1 36
1167 ADL060 Adult Polyglucosan Body Disease 32
1168 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 30
1169 MLL009 Mullerian Aplasia 26
1170 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
1171 c FML249 Familial Amyloidosis, Finnish Type 22
1172 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
1173 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 16
1174 KDN010 Kidney Osteogenic Sarcoma 13
1175 c RNL034 Renal Cell Carcinoma 4 13
1176 SNT001 Santos Mateus Leal Syndrome 9
1177 c RNL033 Renal Carcinoma, Familial 6
1178 P LVR013 Liver Disease 75
1179 SCK003 Sickle Cell Anemia 72
1180 P FML018 Familial Mediterranean Fever 72
1181 c NRF024 Neurofibromatosis, Type I 68
1182 c SCL052 Scleroderma, Familial Progressive 68
1183 P CNG411 Congenital Disorder of Glycosylation, Type in 66
1184 GLC006 Galactosemia 66
1185 P BRD002 Bardet-Biedl Syndrome 64
1186 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1187 c LCL006 Localized Scleroderma 63
1188 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 63
1189 P OST001 Osteopetrosis 62
1190 DGR001 Digeorge Syndrome 62
1191 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
1192 c BRD014 Bardet-Biedl Syndrome 2 61
1193 FCT007 Factor Vii Deficiency 61
1194 c GLY060 Glycogen Storage Disease Ia 61
1195 c ALP101 Alpha-Thalassemia 60
1196 NRM019 Neuraminidase Deficiency 60
1197 c ORF040 Orofaciodigital Syndrome Viii 60
1198 CHL028 Childhood Type Dermatomyositis 59
1199 ELL001 Ellis-Van Creveld Syndrome 59
1200 P BCK002 Beckwith-Wiedemann Syndrome 59
1201 c BRD010 Bardet-Biedl Syndrome 1 59
1202 P SHR029 Short Syndrome 59
1203 DBN001 Dubin-Johnson Syndrome 58
1204 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 57
1205 c INF145 Infantile Liver Failure Syndrome 1 57
1206 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1207 RLP001 Relapsing Polychondritis 56
1208 P NPH005 Nephronophthisis 56
1209 NLP001 Nail-Patella Syndrome 55
1210 APP015 Apparent Mineralocorticoid Excess 55
1211 c GLY004 Glycogen Storage Disease V 55
1212 P FNC043 Fanconi Anemia, Complementation Group E 54
1213 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
1214 PTS001 Patau Syndrome 54
1215 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1216 c ACT134 Acute Liver Failure 53
1217 P PLY017 Polyarteritis Nodosa 52
1218 MYL003 Myeloid Sarcoma 52
1219 c RBN021 Rubinstein-Taybi Syndrome 1 51
1220 LMT001 Limited Scleroderma 51
1221 c GLY011 Glycogen Storage Disease Vii 51
1222 CNN011 Cenani-Lenz Syndactyly Syndrome 51
1223 HYD061 Hydrocephalus, Normal-Pressure 50
1224 DFF035 Diffuse Cutaneous Systemic Sclerosis 50
1225 c GLY005 Glycogen Storage Disease Vi 49
1226 P ORF001 Orofaciodigital Syndrome 48
1227 PRP056 Porphyria, Acute Hepatic 48
1228 P SLL003 Salla Disease 48
1229 MTH078 Methylmalonic Aciduria, Cblb Type 47
1230 ALP077 Alpha-Methylacetoacetic Aciduria 47
1231 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 47
1232 c BRD016 Bardet-Biedl Syndrome 4 47
1233 ONC003 Oncogenic Osteomalacia 46
1234 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 46
1235 c ORF034 Orofaciodigital Syndrome Vi 46
1236 CDQ001 Cauda Equina Syndrome 44
1237 P HRD086 Hereditary Hypophosphatemic Rickets 44
1238 c BRT042 Bartter Syndrome, Type 3 43
1239 c SHR030 Short Qt Syndrome 43
1240 c NPH019 Nephronophthisis 1 43
1241 c L2H001 L-2-Hydroxyglutaric Aciduria 42
1242 c FML015 Familial Nephrotic Syndrome 41
1243 c PSD092 Pseudohypoaldosteronism, Type Iie 41
1244 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
1245 c FNC046 Fanconi Anemia, Complementation Group P 39
1246 P 2HY001 2-Hydroxyglutaric Aciduria 39
1247 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1248 P FML156 Familial Hyperaldosteronism 37
1249 c NPH070 Nephrotic Syndrome, Type 6 36
1250 c JVN041 Juvenile Nephronophthisis 36
1251 c FML294 Familial Short Qt Syndrome 35
1252 TRL002 Tarlov Cysts 35
1253 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1254 HYP193 Hypocomplementemic Urticarial Vasculitis 35
1255 c ORF035 Orofaciodigital Syndrome Iv 35
1256 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 35
1257 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 34
1258 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
1259 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1260 PDN001 Pudendal Neuralgia 32
1261 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
1262 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 31
1263 MCP039 Mucoepithelial Dysplasia, Hereditary 31
1264 IDP085 Idiopathic Infantile Hypercalcemia 30
1265 c FML324 Familial Porphyria Cutanea Tarda 30
1266 c ORF043 Orofaciodigital Syndrome Ix 29
1267 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1268 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
1269 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
1270 BLB005 Beaulieu-Boycott-Innes Syndrome 28
1271 c ORF033 Orofaciodigital Syndrome V 28
1272 FRC005 Fructosuria, Essential 28
1273 VRH001 Verheij Syndrome 27
1274 c LVR030 Liver Failure, Infantile, Transient 27
1275 c OST125 Osteopetrosis, Autosomal Dominant 1 26
1276 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
1277 c ORF038 Orofaciodigital Syndrome Iii 26
1278 c CTR113 Cataract 11, Multiple Types 25
1279 3HY001 3-Hydroxyisobutyric Aciduria 25
1280 c ORF036 Orofaciodigital Syndrome Xiv 25
1281 c PSD047 Pseudo-Turner Syndrome 25
1282 URC004 Urachal Cancer 25
1283 IMM053 Immunotactoid Glomerulopathy 24
1284 c ORF041 Orofaciodigital Syndrome X 24
1285 c GLY059 Glycogen Storage Disease Xiii 23
1286 c SHR031 Short Qt Syndrome 1 23
1287 c SHR032 Short Qt Syndrome 2 23
1288 c INF138 Infantile Liver Failure Syndrome 2 22
1289 NRF010 Neurofaciodigitorenal Syndrome 22
1290 c SHR033 Short Qt Syndrome 3 21
1291 c GLY006 Glycogen Storage Disease Viii 20
1292 c ORF006 Orofaciodigital Syndrome 13 15
1293 c ORF005 Orofaciodigital Syndrome 12 15
1294 GRH002 Graham Boyle Troxell Syndrome 15
1295 c INT094 Intermediate Severe Salla Disease 10
1296 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1297 VSC006 Vascular Cancer 51
1298 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
1299 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1300 ADR054 Adrenocortical Carcinoma, Hereditary 73
1301 c TBR025 Tuberous Sclerosis 1 72
1302 c BTT014 Beta-Thalassemia 71
1303 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
1304 WLS001 Wilson Disease 70
1305 P DRM010 Dermatomyositis 66
1306 MXD005 Mixed Connective Tissue Disease 65
1307 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1308 P MCH002 Machado-Joseph Disease 64
1309 BRG013 Buerger Disease 61
1310 FRC011 Fructose Intolerance, Hereditary 60
1311 c GLY003 Glycogen Storage Disease Iii 59
1312 c HYP731 Hyperaldosteronism, Familial, Type I 58
1313 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 57
1314 P LDD007 Liddle Syndrome 1 56
1315 P CRY007 Cryoglobulinemia, Familial Mixed 56
1316 ALS001 Alstrom Syndrome 55
1317 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
1318 P TRN034 Transverse Myelitis 53
1319 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
1320 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1321 P BRT004 Bartter Disease 53
1322 c ORF037 Orofaciodigital Syndrome I 53
1323 P OLV001 Olivopontocerebellar Atrophy 53
1324 c OST131 Osteopetrosis, Autosomal Dominant 2 53
1325 PSD014 Pseudopseudohypoparathyroidism 51
1326 P SMP003 Simpson-Golabi-Behmel Syndrome 50
1327 c BRD013 Bardet-Biedl Syndrome 12 49
1328 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
1329 RYN003 Reynolds Syndrome 47
1330 c OST129 Osteopetrosis, Autosomal Recessive 2 47
1331 GLT007 Glutathione Synthetase Deficiency 45
1332 c TYR013 Tyrosinemia, Type Ii 45
1333 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 44
1334 ARC002 Arachnoiditis 44
1335 c ACT159 Acute Transverse Myelitis 44
1336 c OST136 Osteopetrosis, Autosomal Recessive 7 44
1337 PRM237 Primary Hypomagnesemia 40
1338 c MCK031 Meckel Syndrome, Type 2 39
1339 IMM073 Immunoglobulin a Vasculitis 36
1340 c OST134 Osteopetrosis, Autosomal Recessive 6 35
1341 P BTR001 Botryoid Rhabdomyosarcoma 35
1342 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1343 c HYP600 Hyperaldosteronism, Familial, Type Ii 31
1344 HYP249 Hyperthyroidism, Nonautoimmune 31
1345 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1346 c OST137 Osteopetrosis, Autosomal Recessive 4 27
1347 c ORF042 Orofaciodigital Syndrome Xi 25
1348 OCL043 Oculorenocerebellar Syndrome 21
1349 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 18
1350 c MCH014 Machado-Joseph Disease Type 2 9
1351 c MCH012 Machado-Joseph Disease Type 1 9
1352 c MCH013 Machado-Joseph Disease Type 3 9
1353 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
1354 c SCN040 Secondary Acute Transverse Myelitis 6
1355 P LYN001 Lynch Syndrome 71
1356 P TBR001 Tuberous Sclerosis 69
1357 P PRP003 Porphyria Cutanea Tarda 67
1358 PRT010 Parathyroid Carcinoma 64
1359 P PLR004 Pleuropulmonary Blastoma 61
1360 RHB001 Rhabdoid Cancer 60
1361 c LYN004 Lynch Syndrome I 58
1362 c GLY007 Glycogen Storage Disease Iv 53
1363 P PSD015 Pseudohypoparathyroidism 50
1364 c MGL018 Megaloblastic Anemia 1 47
1365 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1366 GLC011 Galactose Epimerase Deficiency 45
1367 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
1368 c BRD015 Bardet-Biedl Syndrome 3 43
1369 c PSD117 Pseudohypoparathyroidism, Type Ic 37
1370 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1371 c BRT024 Bartter Syndrome Type 4 21
1372 c PLR018 Pleuropulmonary Blastoma Type 1 10
1373 P RBN007 Rubinstein Taybi Like Syndrome 9
1374 c PLR019 Pleuropulmonary Blastoma Type 2 8
1375 c PLR020 Pleuropulmonary Blastoma Type 3 8
1376 c TYR012 Tyrosinemia, Type I 54
1377 P THR005 Thrombotic Thrombocytopenic Purpura 64
1378 c RNR002 Ren-Related Kidney Disease 10



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