Nephrological Diseases Category (2046 diseases)


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

# Family MCID Name MIFTS
1 P BLD134 Bladder Cancer 74
2 c WLM018 Wilms Tumor 5 66
3 RNL008 Renal Artery Atheroma 45
4 NRG002 Neurogenic Bladder 55
5 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 54
6 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 39
7 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 37
8 BLD131 Bladder Urothelial Carcinoma 59
9 c MCR113 Microvascular Complications of Diabetes 3 52
10 P DBT110 Diabetes Insipidus, Nephrogenic, 1, X-Linked 37
11 BLD173 Bladder Small Cell Carcinoma 34
12 BLD169 Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut 21
13 OVR129 Overactive Bladder Syndrome 44
14 c BLD008 Bladder Carcinoma in Situ 28
15 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 19
16 P HYP658 Hypoplastic Amelogenesis Imperfecta 30
17 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 27
18 BLD029 Bladder Dome Cancer 7
19 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 56
20 CYS036 Cystinosis, Nephropathic 51
21 c HYP302 Hypomagnesemia 4, Renal 38
22 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 37
23 URN003 Urinary Schistosomiasis 46
24 SPR001 Superficial Urinary Bladder Cancer 23
25 LWC001 Low Compliance Bladder 40
26 BLD049 Bladder Transitional Cell Papilloma 28
27 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 24
28 NPH002 Nephrogenic Adenoma of Urinary Bladder 22
29 BLD026 Bladder Trigone Cancer 6
30 P IGN003 Iga Nephropathy 1 44
31 c HYP445 Hypomagnesemia 6, Renal 30
32 c TBL034 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 24
33 BLD047 Bladder Squamous Cell Carcinoma 30
34 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19
35 c URN022 Urinary Tract Infections, Recurrent 32
36 PLS008 Plasmodium Malariae Malaria 25
37 URN005 Urinary Bladder Villous Adenoma 20
38 HST012 Histidinuria Renal Tubular Defect 17
39 JWT001 Jewett-Marshall Bladder Cancer 5
40 BNR003 Ben Ari Shuper Mimouni Syndrome 5
41 c MCR112 Microvascular Complications of Diabetes 2 42
42 c HYP376 Hypouricemia, Renal, 2 29
43 BLD025 Bladder Sarcoma 25
44 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 19
45 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 37
46 CYS010 Cystinosis 59
47 RNL097 Renal Artery Disease 39
48 NPH018 Nephrogenic Systemic Fibrosis 31
49 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 26
50 c BKV001 Bk-Virus Nephropathy 22
51 URN004 Urinary Bladder Inverted Papilloma 18
52 BLD046 Bladder Papillary Transitional Cell Neoplasm 17
53 BLD003 Bladder Lateral Wall Cancer 14
54 P URN007 Urinary Bladder Anterior Wall Cancer 5
55 c URN006 Urinary Bladder Posterior Wall Cancer 5
56 c MCR120 Microvascular Complications of Diabetes 7 47
57 c BRN131 Branchiootorenal Syndrome 1 46
58 c MCR133 Microvascular Complications of Diabetes 4 40
59 c MCR130 Microvascular Complications of Diabetes 6 40
60 BLD065 Blue Diaper Syndrome 24
61 c IGN004 Iga Nephropathy 3 23
62 c RNL099 Renal Hypodysplasia/aplasia 2 21
63 RDR001 Radio Renal Syndrome 18
64 c RNR002 Ren-Related Kidney Disease 7
65 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 48
66 URM005 Uremic Pruritus 32
67 HNM002 Hinman Syndrome 31
68 ACR102 Acrorenal-Mandibular Syndrome 28
69 BLD023 Bladder Leiomyoma 22
70 P DST108 Distal Renal Tubular Acidosis with Hemolytic Anemia 16
71 ALK013 Alkaptonuria 61
72 RTR011 Retroperitoneal Fibrosis 48
73 P C3G002 C3 Glomerulopathy 46
74 DCR008 Dicarboxylic Aminoaciduria 44
75 HMR046 Hemorrhagic Fever-Renal Syndrome 38
76 CYS045 Cystinosis, Adult Nonnephropathic 35
77 INV004 Invasive Bladder Transitional Cell Carcinoma 31
78 c C3G003 C3 Glomerulopathy 3 27
79 BLD028 Bladder Lymphoma 26
80 c NPH118 Nephronophthisis-Like Nephropathy 2 18
81 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 18
82 c RNL117 Renal Tubular Acidosis Iii 17
83 ATS502 Autosomal Dominant Tubulointerstitial Kidney Disease - Muc1 16
84 BRC111 Brachymesomelia-Renal Syndrome 16
85 RRR008 Rare Urinary Tract Tumor 6
86 BLD022 Bladder Flat Intraepithelial Lesion 5
87 P MCR129 Microvascular Complications of Diabetes 1 67
88 URN010 Urinary Tract Obstruction 54
89 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 23
90 KRN006 Karandikar Maria Kamble Syndrome 17
91 HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
92 c PRG011 Progressive Myoclonus Epilepsy 52
93 P TRM004 Trimethylaminuria 49
94 P MYC026 Myoclonus Epilepsy 44
95 PNT006 Pentosuria 37
96 c PRG141 Progressive Myoclonus Epilepsy 10 36
97 c PRG145 Progressive Myoclonus Epilepsy 6 34
98 c BRN086 Branchiootorenal Syndrome 2 30
99 c PRG140 Progressive Myoclonus Epilepsy 4 28
100 LWR018 Lower Urinary Tract Obstruction, Congenital 28
101 P VRT017 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 28
102 BLD170 Bladder Exstrophy and Epispadias Complex 27
103 c PRG142 Progressive Myoclonus Epilepsy 3 25
104 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
105 c PRM209 Primary Trimethylaminuria 23
106 STR095 Structural Heart Defects and Renal Anomalies Syndrome 22
107 BTM003 Beta-Aminoisobutyric Aciduria 22
108 c URF002 Urofacial Syndrome 2 22
109 c PRG143 Progressive Myoclonus Epilepsy 7 22
110 c PRG146 Progressive Myoclonus Epilepsy 9 21
111 c PRG148 Progressive Myoclonus Epilepsy 1a 16
112 c PRG147 Progressive Myoclonus Epilepsy 8 14
113 c PRG144 Progressive Myoclonus Epilepsy 1b 14
114 INB002 Inborn Renal Aminoaciduria 4
115 c GLL024 Gallbladder Disease 1 56
116 P GLL020 Gallbladder Disease 54
117 VCT001 Vacterl Association 50
118 P VSC005 Vesicoureteral Reflux 50
119 CYS019 Cystathioninuria 46
120 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 41
121 HYP348 Hyperglycinuria 40
122 SRC015 Sarcosinemia 38
123 HYP114 Hypertensive Nephropathy 28
124 c WLM011 Wilms Tumor 6 27
125 c GLL027 Gallbladder Disease 4 26
126 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 24
127 c IGN002 Iga Nephropathy 2 19
128 c PLY189 Polycystic Kidney Disease 7 18
129 AZS004 Azoospermia, Obstructive, with Nephrolithiasis 17
130 P C1Q005 C1q Nephropathy 16
131 c HRD219 Hereditary Distal Renal Tubular Acidosis 16
132 c FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 15
133 NNN004 Non-Invasive Bladder Urothelial Carcinoma 13
134 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 13
135 RDL030 Radial-Renal Syndrome 13
136 BLR029 Biliary Malformation with Renal Tubular Insufficiency 12
137 c GLL026 Gallbladder Disease 3 12
138 c GLL025 Gallbladder Disease 2 12
139 ATS497 Autosomal Dominant Tubulointerstitial Kidney Disease - Umod 11
140 ATS492 Autosomal Dominant Tubulointerstitial Kidney Disease - Ren 11
141 PLY043 Polyomavirus Allograft Nephropathy 11
142 BTM002 Beta-Amino Acids, Renal Transport of 10
143 ACT006 Acute Gonococcal Cystitis 10
144 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 10
145 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 9
146 ERY007 Erythropoietin Polycythemia 9
147 NPH025 Nephrotic Syndrome Ocular Anomalies 8
148 GRN023 Green Sandford Davison Syndrome 7
149 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 5
150 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
151 BLD012 Bladder Urothelial Papillary Carcinoma 5
152 BLD011 Bladder Verrucous Squamous Cell Carcinoma 5
153 NNS104 Non-Syndromic Anorectal Malformation with Rectovesical Fistula 4
154 NNR001 Non-Renal Secondary Hyperparathyroidism 4
155 NNT002 Neonatal Urinary Tract Infectious Disease 4
156 STN004 Stone in Bladder Diverticulum 4
157 GNT076 Genetic Renal or Urinary Tract Malformation 3
158 GNT143 Genetic Non-Syndromic Renal or Urinary Tract Malformation 2
159 c MCR115 Microvascular Complications of Diabetes 5 65
160 GT001 Gout 63
161 HWK001 Hawkinsinuria 48
162 ANG018 Angiomyolipoma 45
163 BRN134 Brain Malformations with or Without Urinary Tract Defects 41
164 GLT014 Glutathionuria 41
165 MGB001 Megabladder, Congenital 35
166 c VSC019 Vesicoureteral Reflux 1 30
167 SQL002 Squalene Synthase Deficiency 29
168 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 27
169 c VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 27
170 c VSC025 Vesicoureteral Reflux 3 25
171 c VSC020 Vesicoureteral Reflux 2 25
172 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 23
173 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 23
174 VRT019 Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects 23
175 c VSC046 Vesicoureteral Reflux 8 22
176 MPL011 Maple Syrup Urine Disease, Mild Variant 20
177 c NPH119 Nephrotic Syndrome, Type 26 19
178 BLD040 Bladder Benign Neoplasm 18
179 c VSC043 Vesicoureteral Reflux 6 13
180 c VSC042 Vesicoureteral Reflux 5 12
181 c VSC040 Vesicoureteral Reflux 4 11
182 c VSC041 Vesicoureteral Reflux 7 11
183 LCH006 Lachiewicz Sibley Syndrome 5
184 P MPL001 Maple Syrup Urine Disease 69
185 c BRD016 Bardet-Biedl Syndrome 4 50
186 PRS129 Prostatic Hyperplasia, Benign 49
187 c JBR011 Joubert Syndrome 7 45
188 CHR501 Chromosome 17q12 Deletion Syndrome 41
189 URT031 Ureteral Disease 40
190 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
191 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
192 PYR004 Pyuria 35
193 MLK004 Malakoplakia 33
194 SRN002 Sirenomelia 32
195 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
196 TFR002 Tafro Syndrome 26
197 c SNR005 Senior-Loken Syndrome 5 25
198 c SNR016 Senior-Loken Syndrome 9 25
199 c INT262 Intermediate Maple Syrup Urine Disease 23
200 c RNL129 Renal Hypodysplasia/aplasia 4 18
201 VCT003 Vacterl Hydrocephaly 10
202 c HYP595 Hypertension, Essential 86
203 P MCK013 Meckel Syndrome, Type 1 67
204 QFV001 Q Fever 61
205 c BRD012 Bardet-Biedl Syndrome 11 59
206 c BRD011 Bardet-Biedl Syndrome 10 55
207 ORT008 Orotic Aciduria 54
208 c BRD013 Bardet-Biedl Syndrome 12 51
209 INV006 Inverted Papilloma 50
210 c MCK032 Meckel Syndrome, Type 3 47
211 c MCK033 Meckel Syndrome, Type 4 47
212 c MCK031 Meckel Syndrome, Type 2 47
213 c MCK030 Meckel Syndrome, Type 7 46
214 c MCK014 Meckel Syndrome, Type 5 46
215 c MCK012 Meckel Syndrome, Type 6 45
216 c BRD019 Bardet-Biedl Syndrome 7 44
217 P MLG069 Malignant Hypertension 44
218 HMR023 Hemorrhagic Cystitis 43
219 c BRD021 Bardet-Biedl Syndrome 9 43
220 c ORT011 Orthostatic Hypotension 1 41
221 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 41
222 C1Q001 C1q Deficiency 40
223 PRS042 Prostate Disease 40
224 FML031 Female Stress Incontinence 40
225 URT020 Ureterocele 37
226 AMN006 Aminoaciduria 36
227 KNS007 Kinsship Syndrome 33
228 c SNR015 Senior-Loken Syndrome 8 29
229 OMS001 Omsk Hemorrhagic Fever 29
230 c SNR007 Senior-Loken Syndrome 7 28
231 c MLG080 Malignant Secondary Hypertension 28
232 RNL001 Renal Artery Obstruction 28
233 c MCK020 Meckel Syndrome, Type 11 27
234 c MCK028 Meckel Syndrome 13 27
235 c SNR004 Senior-Loken Syndrome 4 26
236 c BNG021 Benign Essential Hypertension 25
237 c SNR006 Senior-Loken Syndrome 6 25
238 c IMR003 Imerslund-Grasbeck Syndrome 2 25
239 P PRM227 Primary Orthostatic Hypotension 24
240 c MCK037 Meckel Syndrome 14 24
241 c MLG039 Malignant Essential Hypertension 23
242 c ORT012 Orthostatic Hypotension 2 21
243 VLN001 Valinemia 20
244 PRT251 Proteinuria, Chronic Benign 19
245 NPH097 Nephrosialidosis 19
246 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
247 PX2001 Pax2-Related Disorder 17
248 c HRD221 Hereditary Nephrogenic Diabetes Insipidus 15
249 MTH075 Methionine Malabsorption Syndrome 15
250 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 13
251 HST019 Histidinuria Due to a Renal Tubular Defect 13
252 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 12
253 NPH050 Nephropathy, Progressive, with Deafness 12
254 RNL116 Renal and Mullerian Duct Hypoplasia 12
255 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 12
256 c BNG034 Benign Secondary Hypertension 11
257 VNT033 Ventriculomegaly with Defects of the Radius and Kidney 11
258 c HYP447 Hypertension, Essential 1 11
259 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
260 c HYP449 Hypertension, Essential 3 11
261 c HYP452 Hypertension, Essential 6 11
262 PLY155 Polycystic Kidney, Cataract, and Congenital Blindness 11
263 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 10
264 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 10
265 c HYP448 Hypertension, Essential 2 10
266 c HYP450 Hypertension, Essential 4 10
267 RNL130 Renal Ciliopathy 10
268 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 10
269 c HYP451 Hypertension, Essential 5 9
270 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
271 KLL010 Kallikrein, Decreased Urinary Activity of 9
272 c HYP453 Hypertension, Essential 7 9
273 c HYP454 Hypertension, Essential 8 9
274 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
275 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
276 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 7
277 NPH099 Nephropathy, Chronic Tubulointerstitial 7
278 SLG001 Selig Benacerraf Greene Syndrome 7
279 RRG073 Rare Genetic Renal Disease 6
280 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
281 JJN005 Jejunal Atresia with Renal Adysplasia 6
282 c BLT012 Bilateral Renal Agenesis Dominant Type 5
283 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 5
284 GNT063 Genetic Renal Tubular Disease 5
285 GNT064 Genetic Renal Tumor 4
286 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
287 ALS004 Alsing Syndrome 4
288 PLM171 Pulmonic Stenosis and Congenital Nephrosis 4
289 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
290 BLD024 Bladder Squamous Papilloma 4
291 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
292 GLY095 Glycoprotein, Renal 4
293 RNL124 Renal Disease with Cataract 3
294 RRD035 Rare Disorder Potentially Indicated for Kidney Transplant 3
295 BLL008 Billet Bear Syndrome 2
296 c CHR684 Chronic Kidney Disease 74
297 c GLY008 Glycogen Storage Disease Ii 72
298 FBR012 Fabry Disease 71
299 P TMP003 Temporal Arteritis 69
300 P PSD087 Pseudoxanthoma Elasticum 68
301 c GLY060 Glycogen Storage Disease Ia 66
302 c GLY004 Glycogen Storage Disease V 65
303 c GLY003 Glycogen Storage Disease Iii 65
304 c PRC016 Pre-Eclampsia 65
305 P CHR071 Charcot-Marie-Tooth Disease 64
306 c GLY007 Glycogen Storage Disease Iv 64
307 c ORF037 Orofaciodigital Syndrome I 64
308 PPL048 Papillorenal Syndrome 62
309 c FRS014 Fraser Syndrome 1 61
310 CHL028 Childhood Type Dermatomyositis 61
311 c GLY005 Glycogen Storage Disease Vi 59
312 P GLY013 Glycogen Storage Disease 59
313 HYD002 Hydronephrosis 58
314 PRS055 Pierson Syndrome 57
315 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 57
316 c GLY011 Glycogen Storage Disease Vii 57
317 P PYL005 Pyelonephritis 56
318 P ECL001 Eclampsia 52
319 IGG001 Iga Glomerulonephritis 52
320 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 51
321 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 51
322 HYP741 Hyperparathyroidism 2 with Jaw Tumors 51
323 URT001 Urethritis 51
324 c FNC032 Fanconi Anemia, Complementation Group B 50
325 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 50
326 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 50
327 c GLY097 Glycogen Storage Disease Ixb 49
328 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
329 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 49
330 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 49
331 BCT004 Bacteriuria 48
332 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
333 c GLY115 Glycogen Storage Disease Ixd 48
334 P RNV001 Renovascular Hypertension 47
335 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
336 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 46
337 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
338 c SVR005 Severe Pre-Eclampsia 46
339 c ACT042 Acute Pyelonephritis 46
340 c GLY016 Glycogen Storage Disease Ib 46
341 c GLY009 Glycogen Storage Disease Xv 46
342 c BRD032 Bardet-Biedl Syndrome 14 45
343 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 45
344 CHR667 Chromosome 3pter-P25 Deletion Syndrome 44
345 STR094 Stromme Syndrome 44
346 c GLY044 Glycogen Storage Disease Ixc 43
347 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 43
348 c FRS016 Fraser Syndrome 2 42
349 c BRD048 Bardet-Biedl Syndrome 18 42
350 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
351 P PRL003 Proliferative Glomerulonephritis 40
352 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 40
353 CRS001 Crescentic Glomerulonephritis 40
354 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 40
355 P RPD001 Rapidly Progressive Glomerulonephritis 39
356 VRH001 Verheij Syndrome 39
357 c CHR020 Chronic Interstitial Cystitis 39
358 c GLY057 Glycogen Storage Disease X 38
359 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37
360 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 37
361 c GLY043 Glycogen Storage Disease Xii 37
362 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 37
363 c ACT079 Acute Proliferative Glomerulonephritis 37
364 PYL004 Pyelitis 36
365 DPS001 Dipsogenic Diabetes Insipidus 36
366 c 3MT007 3-Methylglutaconic Aciduria 36
367 c GLY006 Glycogen Storage Disease Viii 36
368 c FNC034 Fanconi Renotubular Syndrome 2 35
369 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 35
370 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 35
371 ACT040 Acute Poststreptococcal Glomerulonephritis 35
372 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 34
373 c CHR098 Chronic Pyelonephritis 34
374 P CHR200 Chromosome 16 Trisomy 33
375 ANT002 Anti-Basement Membrane Glomerulonephritis 33
376 HYP193 Hypocomplementemic Urticarial Vasculitis 33
377 RDT001 Radiation Cystitis 32
378 c MLG003 Malignant Renovascular Hypertension 32
379 c GLY017 Glycogen Storage Disease Ic 32
380 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 31
381 c MNK005 Menke-Hennekam Syndrome 1 30
382 c GLY023 Glycogen Storage Disease Type 0 30
383 c CHR227 Chromosome 20 Trisomy 30
384 c VCT004 Vacterl Association with Hydrocephalus 30
385 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 29
386 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
387 c GLY059 Glycogen Storage Disease Xiii 29
388 c FRS015 Fraser Syndrome 3 28
389 PRN007 Perinephritis 28
390 P VCT008 Vacterl with Hydrocephalus 28
391 c CHR026 Charcot-Marie-Tooth Disease Type X 28
392 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 28
393 c GLY093 Glycogen Storage Disease Ixa 28
394 ORT001 Orthostatic Proteinuria 27
395 GST058 Gestational Diabetes Insipidus 27
396 OSC001 Oeis Complex 27
397 URT016 Urethral Diverticulum 27
398 GNT043 Genitopalatocardiac Syndrome 26
399 CYS003 Cystitis Cystica 26
400 c CHR701 Charcot-Marie-Tooth Disease Type 1g 26
401 c JVN019 Juvenile Temporal Arteritis 26
402 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 26
403 XNT001 Xanthogranulomatous Pyelonephritis 25
404 P MNK007 Menke-Hennekam Syndrome 25
405 DFF015 Diffuse Glomerulonephritis 25
406 AXL004 Axial Mesodermal Dysplasia Spectrum 25
407 c CHR717 Charcot-Marie-Tooth Disease Dominant Intermediate a 25
408 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
409 c MNK006 Menke-Hennekam Syndrome 2 25
410 NRF010 Neurofaciodigitorenal Syndrome 24
411 c GLY001 Glycogen Storage Disease Ix 23
412 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
413 MSC081 Mosaic Trisomy 15 22
414 P CNG326 Congenital Primary Megaureter 22
415 c SBC010 Subacute Glomerulonephritis 21
416 TYR015 Tyrosinosis 21
417 FWL003 Fowler Urethral Sphincter Dysfunction Syndrome 21
418 EXD002 Exudative Glomerulonephritis 20
419 ACT041 Acute Diffuse Nephritis 20
420 c CHR135 Charcot-Marie-Tooth Disease Type 2a 19
421 PTN009 Patent Urachus 18
422 ISL133 Isolated Epispadias 17
423 PYL001 Pyeloureteritis Cystica 16
424 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 15
425 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
426 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 14
427 P FRS017 Fraser-Like Syndrome 14
428 c BNG028 Benign Renovascular Hypertension 13
429 CMP052 Complication in Hemodialysis 13
430 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
431 MGC005 Megacystis-Megaureter Syndrome 12
432 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 11
433 c FNC067 Fanconi Renotubular Syndrome 4 10
434 URG002 Urogenital Adysplasia 10
435 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
436 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
437 CNG583 Congenital Urachal Anomaly 7
438 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
439 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 7
440 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 6
441 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
442 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
443 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
444 EGF001 Egf-Related Primary Hypomagnesemia with Intellectual Disability 4
445 CNG270 Congenital Primary Megaureter, Obstructed Form 4
446 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
447 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 4
448 c PRM147 Primary Megaureter, Adult-Onset Form 4
449 STR004 Stricture or Kinking of Ureter 4
450 FCL004 Focal Embolic Glomerulonephritis 3
451 CNG585 Congenital Primary Megaureter, Refluxing and Obstructed Form 3
452 CLL042 Collagen-Related Glomerular Basement Membrane Disease 2
453 BLD039 Bladder Adenocarcinoma 36
454 HMT008 Hematuria, Benign Familial 53
455 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 26
456 BLD031 Bladder Signet Ring Cell Adenocarcinoma 15
457 BLD027 Bladder Neck Cancer 7
458 HYP666 Hypoparathyroidism-Deafness-Renal Disease Syndrome 37
459 BLD043 Bladder Clear Cell Adenocarcinoma 27
460 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
461 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 11
462 TRN018 Transitional Cell Carcinoma 51
463 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60
464 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 37
465 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
466 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
467 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23
468 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 30
469 URT023 Ureteric Orifice Cancer 28
470 SNT001 Santos Mateus Leal Syndrome 20
471 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 19
472 CHR176 Chromophil Renal Cell Carcinoma 18
473 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 16
474 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 10
475 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 9
476 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
477 BLD014 Bladder Colonic Type Adenocarcinoma 5
478 BLD010 Bladder Colloid Adenocarcinoma 5
479 P BRD002 Bardet-Biedl Syndrome 67
480 c BRD010 Bardet-Biedl Syndrome 1 65
481 c BRD015 Bardet-Biedl Syndrome 3 49
482 c BRD033 Bardet-Biedl Syndrome 13 43
483 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
484 c ALP106 Alport Syndrome 1, X-Linked 39
485 BLD050 Bladder Urachal Carcinoma 36
486 c BRD053 Bardet-Biedl Syndrome 22 36
487 CMP042 Complement Factor H Deficiency 35
488 c BRD035 Bardet-Biedl Syndrome 15 35
489 c TWN011 Townes-Brocks Syndrome 1 35
490 AMN007 Aminoacylase 1 Deficiency 34
491 c BRD050 Bardet-Biedl Syndrome 21 29
492 CRL004 Caroli Disease 53
493 c BRD014 Bardet-Biedl Syndrome 2 50
494 HND004 Hand-Foot-Genital Syndrome 49
495 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
496 GLC022 Glucose/galactose Malabsorption 47
497 GRN034 Grange Syndrome 38
498 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
499 OPT079 Optic Atrophy 13 with Retinal and Foveal Abnormalities 21
500 c FCL082 Focal Segmental Glomerulosclerosis 4 20
501 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 20
502 c MYG006 Myoglobinuria, Autosomal Dominant 17
503 CLP007 Clpb Deficiency 15
504 ELL004 Ellis Yale Winter Syndrome 7
505 BLD172 Bladder Sarcomatoid Transitional Cell Carcinoma 4
506 PLY023 Polycystic Liver Disease 62
507 DBN001 Dubin-Johnson Syndrome 60
508 P CTS001 Cutis Laxa 57
509 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
510 P FML068 Familial Hypocalciuric Hypercalcemia 55
511 P MGC008 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 52
512 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
513 OST011 Osteomalacia 51
514 c TMR025 Tumor Predisposition Syndrome 1 51
515 c BRD018 Bardet-Biedl Syndrome 6 49
516 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 48
517 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
518 CMP004 Complement Factor I Deficiency 48
519 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
520 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
521 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
522 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
523 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
524 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
525 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
526 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 43
527 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
528 c BRD017 Bardet-Biedl Syndrome 5 43
529 P BRN042 Branchiootic Syndrome 43
530 P IMR002 Imerslund-Grasbeck Syndrome 1 42
531 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
532 DFF021 Diffuse Mesangial Sclerosis 41
533 P MLG074 Malignant Mesenchymoma 40
534 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
535 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
536 UPP011 Upper Tract Urothelial Carcinoma 38
537 c TMR026 Tumor Predisposition Syndrome 2 36
538 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
539 c ATP003 Atp6v0a2-Related Cutis Laxa 35
540 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
541 URC006 Urocanase Deficiency 33
542 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
543 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
544 PLV001 Pelvic Lipomatosis 30
545 P FHT001 Fh Tumor Predisposition Syndrome 30
546 c BRD051 Bardet-Biedl Syndrome 20 27
547 3HY001 3-Hydroxyisobutyric Aciduria 26
548 CMP075 Campomelia, Cumming Type 26
549 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
550 SDH011 Sedoheptulokinase Deficiency 25
551 c MGC012 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 25
552 HYP683 Hypogonadism-Cataract Syndrome 25
553 BLC004 Blackwater Fever 25
554 MLY011 Maleylacetoacetate Isomerase Deficiency 25
555 c MGC009 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 24
556 NRS001 Neuroschistosomiasis 24
557 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
558 c ACQ027 Acquired Cutis Laxa 20
559 c LTB003 Ltbp4-Related Cutis Laxa 19
560 c FBL003 Fbln5-Related Cutis Laxa 18
561 FRS010 Forsythe-Wakeling Syndrome 16
562 c RNL034 Renal Cell Carcinoma 4 16
563 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
564 CMP022 Camptodactyly Taurinuria 14
565 c ELN002 Eln-Related Cutis Laxa 14
566 c EFM001 Efemp2-Related Cutis Laxa 13
567 P RTN220 Retinal Ciliopathy 13
568 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
569 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 11
570 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 11
571 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 11
572 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
573 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 10
574 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 10
575 c ADL020 Adult Malignant Mesenchymoma 9
576 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
577 BLD021 Bladder Urachal Adenocarcinoma 9
578 BLD017 Bladder Mixed Adenocarcinoma 8
579 HRS043 Horseshoe Kidney-Nievergelt/savarirayan Mesomelic Dysplasia-Seizures-Hypertrichosis-Intellectual Disability-Pulmonary Involvement Syndrome 7
580 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
581 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
582 BLD004 Bladder Urachal Urothelial Carcinoma 5
583 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
584 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 3
585 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 3
586 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 3
587 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 3
588 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 3
589 OCL029 Oculo Skeletal Renal Syndrome 2
590 c FNC027 Fanconi Anemia, Complementation Group a 80
591 c TBR025 Tuberous Sclerosis 1 74
592 WLS001 Wilson Disease 72
593 P JBR020 Joubert Syndrome 1 72
594 c FNC043 Fanconi Anemia, Complementation Group E 68
595 P TBR001 Tuberous Sclerosis 68
596 c CNG411 Congenital Disorder of Glycosylation, Type in 67
597 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 67
598 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 67
599 c TYR012 Tyrosinemia, Type I 67
600 P MTR004 Maturity-Onset Diabetes of the Young 65
601 c PRX045 Peroxisome Biogenesis Disorder 1b 65
602 P ZLL001 Zellweger Syndrome 64
603 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 64
604 MGL001 Megaloblastic Anemia 64
605 c TBR026 Tuberous Sclerosis 2 63
606 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
607 P FNC004 Fanconi Syndrome 63
608 P PLY017 Polyarteritis Nodosa 62
609 P PLV020 Pelvic Organ Prolapse 62
610 BTT017 Beta-Thalassemia Major 61
611 P BCK002 Beckwith-Wiedemann Syndrome 61
612 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
613 HNC001 Henoch-Schoenlein Purpura 61
614 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 61
615 c ACT071 Acute Kidney Failure 61
616 P NPH012 Nephrotic Syndrome 61
617 SCR020 Sacral Defect with Anterior Meningocele 61
618 P THR005 Thrombotic Thrombocytopenic Purpura 60
619 P CRN323 Cranioectodermal Dysplasia 60
620 c PRX059 Peroxisome Biogenesis Disorder 1a 59
621 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
622 P PLY041 Polymyositis 58
623 c FNC042 Fanconi Anemia, Complementation Group D2 58
624 P CYS018 Cystitis 58
625 P TYR004 Tyrosinemia 58
626 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 57
627 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 57
628 P INT143 Interstitial Cystitis 57
629 P BRT004 Bartter Disease 57
630 c NPH055 Nephrotic Syndrome, Type 1 57
631 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
632 DBT087 Diabetes Insipidus, Neurohypophyseal 57
633 P FNC044 Fanconi Anemia, Complementation Group C 56
634 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
635 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
636 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 56
637 GDP001 Goodpasture Syndrome 55
638 P FML052 Familial Cold Autoinflammatory Syndrome 55
639 P DBT005 Diabetes Insipidus 55
640 P DRR001 Diarrhea 55
641 c JBR041 Joubert Syndrome 3 55
642 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
643 CYS039 Cystic Kidney Disease 54
644 NPH009 Nephrolithiasis 54
645 c FNC024 Fanconi Anemia, Complementation Group D1 54
646 PLV003 Pelvic Inflammatory Disease 54
647 c FNC029 Fanconi Anemia, Complementation Group I 54
648 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
649 c FNC045 Fanconi Anemia, Complementation Group F 53
650 TRC003 Trichomoniasis 53
651 c NPH049 Nephrotic Syndrome, Type 2 53
652 c FNC025 Fanconi Anemia, Complementation Group J 53
653 c TYR013 Tyrosinemia, Type Ii 53
654 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
655 c HYP603 Hyperoxaluria, Primary, Type Iii 52
656 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
657 c GLL038 Galloway-Mowat Syndrome 1 52
658 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
659 P URN019 Urinary Tract Infection 52
660 P RNL007 Renal Tubular Acidosis 51
661 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
662 c ACT068 Acute Cystitis 51
663 P BRT050 Bartter Syndrome, Type 2, Antenatal 51
664 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
665 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
666 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
667 END086 End Stage Renal Disease 50
668 c HYP602 Hyperoxaluria, Primary, Type Ii 50
669 NPH010 Nephrosclerosis 50
670 RNL025 Renal Hypoplasia 50
671 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 50
672 c FNC028 Fanconi Anemia, Complementation Group L 50
673 c NPH102 Nephrotic Syndrome, Type 14 50
674 c JBR004 Joubert Syndrome 2 50
675 c CRN108 Cranioectodermal Dysplasia 1 49
676 ADR012 Adrenal Gland Disease 49
677 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
678 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
679 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
680 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
681 HMG002 Hemoglobinuria 49
682 c JBR012 Joubert Syndrome 5 48
683 c FNC048 Fanconi Anemia, Complementation Group O 48
684 NPH003 Nephrocalcinosis 48
685 RNS001 Raine Syndrome 48
686 URL001 Urolithiasis 48
687 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
688 c JBR013 Joubert Syndrome 8 48
689 FSH001 Fish-Eye Disease 48
690 c NPH030 Nephronophthisis 2 48
691 P NRM002 Normal Pressure Hydrocephalus 48
692 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
693 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
694 P MTC010 Mitochondrial Dna Depletion Syndrome 47
695 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 47
696 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
697 c FML015 Familial Nephrotic Syndrome 47
698 c NPH032 Nephronophthisis 4 47
699 c JBR025 Joubert Syndrome 17 47
700 c ZLL011 Zellweger Spectrum Disorder 47
701 c FNC030 Fanconi Anemia, Complementation Group G 47
702 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
703 URM002 Uremia 47
704 c FNC023 Fanconi Anemia, Complementation Group N 47
705 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
706 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
707 c JBR024 Joubert Syndrome 14 47
708 P PSD003 Pseudohypoaldosteronism 46
709 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
710 RNL094 Renal Dysplasia, Cystic 46
711 c JBR035 Joubert Syndrome 24 46
712 c JBR043 Joubert Syndrome 32 46
713 c JBR031 Joubert Syndrome 21 46
714 P GLL032 Galloway-Mowat Syndrome 46
715 RNL077 Renal Fibrosis 46
716 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
717 ACT003 Acute Kidney Tubular Necrosis 46
718 c TYR011 Tyrosinemia, Type Iii 46
719 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 46
720 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
721 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
722 INT067 Interstitial Nephritis 45
723 c JBR022 Joubert Syndrome 20 45
724 BTT018 Beta-Thalassemia Intermedia 45
725 c CRN111 Cranioectodermal Dysplasia 4 45
726 BTN004 Biotin Deficiency 45
727 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
728 URT037 Urethral Stricture 45
729 c NPH069 Nephronophthisis 15 44
730 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
731 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
732 c BRN108 Branchiootic Syndrome 1 44
733 c NPH071 Nephronophthisis 14 44
734 URT014 Ureterolithiasis 44
735 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
736 c FNC047 Fanconi Anemia, Complementation Group Q 44
737 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
738 c NPH072 Nephrotic Syndrome, Type 7 44
739 c JBR026 Joubert Syndrome 15 44
740 c JBR042 Joubert Syndrome 23 44
741 c BRD045 Bardet-Biedl Syndrome 19 44
742 DFF035 Diffuse Cutaneous Systemic Sclerosis 43
743 ANR004 Anuria 43
744 c BRD044 Bardet-Biedl Syndrome 17 43
745 HLX001 Helix Syndrome 43
746 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
747 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 43
748 DMN007 D-Minus Hemolytic Uremic Syndrome 43
749 c JBR016 Joubert Syndrome 10 43
750 c NPH068 Nephronophthisis 16 43
751 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 43
752 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
753 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
754 c NPH035 Nephronophthisis 9 42
755 NPH078 Nephrolithiasis, Uric Acid 42
756 c CNG379 Congenital Disorder of Glycosylation, Type It 42
757 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
758 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
759 OBS082 Obstructive Nephropathy 42
760 P RNL123 Renal Agenesis, Bilateral 42
761 c NPH054 Nephrotic Syndrome, Type 3 42
762 c NPH076 Nephrotic Syndrome, Type 10 42
763 SCH037 Schinzel-Giedion Midface Retraction Syndrome 42
764 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
765 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
766 BLD045 Bladder Diverticulum 41
767 FBR032 Fibromuscular Dysplasia 41
768 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
769 c FNC052 Fanconi Anemia, Complementation Group T 41
770 c FNC058 Fanconi Anemia, Complementation Group R 41
771 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
772 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
773 MTN001 Metanephric Adenoma 41
774 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
775 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
776 c JBR015 Joubert Syndrome 6 40
777 c BRD020 Bardet-Biedl Syndrome 8 40
778 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
779 c JBR030 Joubert Syndrome 22 40
780 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
781 P MYG005 Myoglobinuria 40
782 c FNC057 Fanconi Anemia, Complementation Group U 40
783 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 40
784 c PST041 Posterior Urethral Valves 40
785 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
786 c NPH047 Nephrotic Syndrome, Type 4 39
787 c BRD047 Bardet-Biedl Syndrome 16 39
788 c JBR028 Joubert Syndrome 13 39
789 c PRX054 Peroxisome Biogenesis Disorder 12a 39
790 c JBR037 Joubert Syndrome 26 39
791 c PRX055 Peroxisome Biogenesis Disorder 11a 39
792 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 38
793 c CRN109 Cranioectodermal Dysplasia 2 38
794 c MCK034 Meckel Syndrome, Type 8 38
795 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 38
796 BLD009 Bladder Neck Obstruction 38
797 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
798 c FNC046 Fanconi Anemia, Complementation Group P 38
799 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
800 c NPH117 Nephrotic Syndrome, Type 24 37
801 c JBR036 Joubert Syndrome 25 37
802 ACT149 Acetaminophen Metabolism 37
803 c NPH108 Nephrotic Syndrome, Type 20 37
804 c CHR087 Chronic Cystitis 37
805 c PRX063 Peroxisome Biogenesis Disorder 2a 37
806 c JBR021 Joubert Syndrome 18 37
807 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
808 c ACT004 Acute Diarrhea 36
809 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
810 c JBR040 Joubert Syndrome 30 36
811 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
812 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
813 c HYP438 Hyperaldosteronism, Familial, Type Iii 36
814 c NPH074 Nephrotic Syndrome, Type 9 36
815 c PRX060 Peroxisome Biogenesis Disorder 5a 36
816 KDN006 Kidney Papillary Necrosis 35
817 c CNG188 Congenital Disorder of Glycosylation, Type if 35
818 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
819 c PRX050 Peroxisome Biogenesis Disorder 9b 35
820 c FNC056 Fanconi Anemia, Complementation Group V 35
821 c JBR045 Joubert Syndrome 33 35
822 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
823 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 34
824 c INF002 Inflammatory Diarrhea 34
825 P NPH037 Nephronophthisis-Like Nephropathy 1 34
826 c JBR014 Joubert Syndrome 9 34
827 c FNC059 Fanconi-Like Syndrome 34
828 c PRX057 Peroxisome Biogenesis Disorder 4a 34
829 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
830 c PRX065 Peroxisome Biogenesis Disorder 3a 34
831 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
832 BLD041 Bladder Calculus 33
833 KDN013 Kidney Hypertrophy 33
834 c PRX051 Peroxisome Biogenesis Disorder 6a 33
835 c PRX046 Peroxisome Biogenesis Disorder 7a 32
836 IMM001 Immune-Complex Glomerulonephritis 32
837 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
838 c DRR009 Diarrhea 6 32
839 LMB014 Limb-Body Wall Complex 32
840 MND031 Mandibuloacral Dysplasia Progeroid Syndrome 32
841 c GLL040 Galloway-Mowat Syndrome 3 32
842 RNL005 Renal Wilms' Tumor 32
843 c FCL053 Focal Segmental Glomerulosclerosis 8 32
844 RNL012 Renal Tuberculosis 32
845 c NPH111 Nephrotic Syndrome, Type 21 31
846 c PRX048 Peroxisome Biogenesis Disorder 10a 31
847 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
848 c RNL128 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 31
849 KDN001 Kidney Cortex Necrosis 31
850 c MYG007 Myoglobinuria, Recurrent 31
851 GLM044 Glomerular Disease 31
852 c NPH115 Nephrotic Syndrome, Type 23 31
853 ETH012 Ethylene Glycol Poisoning 31
854 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31
855 P PRX064 Peroxisome Biogenesis Disorder 2b 30
856 RTB001 Rat Bite Fever 30
857 c JBR039 Joubert Syndrome 28 30
858 c PRX058 Peroxisome Biogenesis Disorder 4b 30
859 c PRX052 Peroxisome Biogenesis Disorder 13a 30
860 c FNC062 Fanconi Anemia, Complementation Group S 30
861 ADN090 Adenosylcobalamin Deficiency 30
862 P HRD009 Hereditary Wilms' Tumor 29
863 c PLY176 Polycystic Kidney Disease 4 29
864 c PRX066 Peroxisome Biogenesis Disorder 3b 29
865 c CNG478 Congenital Diarrhea 29
866 GLN006 Glandular Cystitis 29
867 URT011 Urethral Calculus 29
868 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 29
869 c XLN251 X-Linked Nephrogenic Diabetes Insipidus 28
870 c PRX091 Peroxisome Biogenesis Disorder 8a 28
871 c PRX043 Peroxisome Biogenesis Disorder 6b 28
872 c SPS013 Spastic Paraplegia 8 28
873 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
874 c PRX047 Peroxisome Biogenesis Disorder 5b 28
875 c PRX053 Peroxisome Biogenesis Disorder 14b 28
876 c MCK035 Meckel Syndrome, Type 10 28
877 c BRN128 Branchiootic Syndrome 3 28
878 c SYS066 Systemic Polyarteritis Nodosa 28
879 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 28
880 c PRX068 Peroxisome Biogenesis Disorder 7b 27
881 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
882 c NPH103 Nephrotic Syndrome, Type 15 27
883 c CRN110 Cranioectodermal Dysplasia 3 27
884 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 27
885 SCN001 Secondary Hyperparathyroidism of Renal Origin 27
886 c NPH114 Nephrotic Syndrome, Type 22 27
887 c JBR044 Joubert Syndrome 31 27
888 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
889 DLC002 D-Lactic Aciduria with Gout 26
890 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
891 c PRX062 Peroxisome Biogenesis Disorder 8b 26
892 RNL021 Renal Tubular Transport Disease 26
893 c NPH096 Nephrotic Syndrome, Type 12 26
894 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 26
895 c NPH073 Nephrotic Syndrome, Type 8 26
896 c GLL042 Galloway-Mowat Syndrome 5 26
897 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
898 c NPH095 Nephrotic Syndrome, Type 11 26
899 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 26
900 c JBR049 Joubert Syndrome 37 26
901 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
902 PLY179 Polyomavirus-Associated Nephropathy 26
903 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
904 c FNC061 Fanconi Anemia, Complementation Group W 25
905 c GLL045 Galloway-Mowat Syndrome 6 25
906 c GLL046 Galloway-Mowat Syndrome 7 25
907 c DRR018 Diarrhea 9 25
908 c NPH105 Nephrotic Syndrome, Type 17 25
909 ATR053 Atresia of Urethra 25
910 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 25
911 c GLL041 Galloway-Mowat Syndrome 4 25
912 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
913 c NPH070 Nephrotic Syndrome, Type 6 24
914 c PRX056 Peroxisome Biogenesis Disorder 11b 24
915 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
916 c JBR047 Joubert Syndrome 35 24
917 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
918 c JBR038 Joubert Syndrome 27 24
919 c NPH106 Nephrotic Syndrome, Type 18 24
920 c JBR050 Joubert Syndrome 38 24
921 c PLY141 Polycystic Kidney Disease 5 24
922 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
923 KDN025 Kidney Cortex Disease 24
924 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
925 c GLL053 Galloway-Mowat Syndrome 10 23
926 KDN004 Kidney Hemangiopericytoma 23
927 P HYP893 Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 23
928 c MCK036 Meckel Syndrome, Type 9 23
929 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
930 c HYP892 Hypomagnesemia, Seizures, and Impaired Intellectual Development 1 23
931 c JBR048 Joubert Syndrome 36 23
932 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
933 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
934 c GLL047 Galloway-Mowat Syndrome 8 23
935 c JBR051 Joubert Syndrome 39 23
936 TRG001 Trigonitis 23
937 c NPH093 Nephrotic Syndrome, Type 13 22
938 MSC089 Mosaic Monosomy X 22
939 c NPH107 Nephrotic Syndrome, Type 19 22
940 c TRN053 Transient Pseudohypoaldosteronism 22
941 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
942 c JBR052 Joubert Syndrome 40 22
943 c HYP712 Hypercalcemia, Infantile, 2 22
944 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
945 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
946 c PRX089 Peroxisome Biogenesis Disorder 10b 21
947 CNT120 Central Hypoventilation Syndrome, Congenital, 2, and Autonomic Dysfunction 21
948 AMP011 Ampola Syndrome 21
949 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 21
950 c NPH104 Nephrotic Syndrome, Type 16 21
951 c RNL016 Renal Infectious Disease 21
952 GNT182 Genetic Nephrotic Syndrome 21
953 NPH006 Nephrogenic Adenofibroma 21
954 CRM007 Crome Syndrome 21
955 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
956 c GLL052 Galloway-Mowat Syndrome 9 20
957 URM001 Uremic Neuropathy 20
958 UNL014 Unilateral Multicystic Dysplastic Kidney 20
959 KDN014 Kidney Leiomyosarcoma 20
960 ESN012 Eosinophilic Cryptitis 20
961 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 20
962 KDN005 Kidney Liposarcoma 19
963 c MGC010 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 19
964 BLT020 Bilateral Multicystic Dysplastic Kidney 19
965 BLT024 Bilateral Renal Aplasia 19
966 MTH070 Methimazole Antenatal Exposure 19
967 RNL109 Renal Hypoplasia, Bilateral 19
968 c BRN073 Branchiootic Syndrome 2 19
969 LWR004 Lower Urinary Tract Calculus 18
970 CMP016 Camptobrachydactyly 18
971 PHS019 Phosphohydroxylysinuria 18
972 DYS180 Dyschondrosteosis and Nephritis 18
973 EPT005 Epithelial Predominant Wilms' Tumor 18
974 CNG330 Congenital Megacalycosis 17
975 CHL098 Childhood Myocerebrohepatopathy Spectrum 17
976 CLL035 Collagen Type Iii Glomerulopathy 17
977 IDP097 Idiopathic Non-Lupus Full-House Nephropathy 17
978 ECT027 Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate 16
979 P PRM375 Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 16
980 c JVN036 Juvenile Sialidosis Type 2 16
981 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 16
982 c MTC014 Mitochondrial Dna Deletion Syndromes 15
983 CNG097 Congenital Giant Megaureter 15
984 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 15
985 c GLL043 Galloway-Mowat Syndrome 2 14
986 P ANT062 Anterior Urethral Valve 14
987 URC012 Urachal Sinus 13
988 RRC029 Rare Cause of Hypertension 13
989 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
990 c PRM152 Primary Renal Tubular Acidosis 12
991 URT019 Urethral Gland Abscess 12
992 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
993 c LTN020 Late-Onset Nephronophthisis 12
994 CLN023 Colonic Malakoplakia 12
995 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
996 CHL044 Childhood Kidney Angiomyolipoma 11
997 c PLV014 Pelvic Organ Prolapse 2 10
998 DCT001 Dioctophymiasis 10
999 c CNG628 Congenital Disorder of Glycosylation Iw 9
1000 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1001 RNL010 Renal Pelvis Inverted Papilloma 8
1002 GTL002 Gitelman-Like Kidney Tubulopathy Due to Mitochondrial Dna Mutation 7
1003 MXD009 Mixed Cell Type Kidney Wilms' Tumor 7
1004 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 7
1005 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 7
1006 P DSR041 Disorder of Multiple Glycosylation 6
1007 PRP094 Propylthiouracil Embryofetopathy 6
1008 BNG097 Benign Metanephric Tumor 6
1009 GNT192 Genetic Cystic Renal Disease 5
1010 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
1011 NNC001 Non-Congenital Cyst of Kidney 4
1012 c TYP006 Type 2 Papillary Adenoma of the Kidney 4
1013 P TYP005 Type 1 Papillary Adenoma of the Kidney 4
1014 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1015 PRM377 Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome 4
1016 BLK002 Balkan Hemorrhagic Fever 4
1017 CNG580 Congenital Disorder of Glycosylation with Nephropathy As a Major Feature 4
1018 UNL009 Unilateral Congenital Megacalycosis 4
1019 SYS078 Systemic Disease with Glomerulopathy As a Major Feature 4
1020 ATH002 Atheroembolism of Kidney 3
1021 NPH112 Nephrotic Syndrome Without Extrarenal Manifestations 3
1022 PRM055 Primary Tubular Proximal Acidosis 3
1023 GNT183 Genetic Systemic Disease with Glomerulopathy As a Major Feature 3
1024 RRG077 Rare Genetic Cause of Hypertension 3
1025 DSR087 Disorder with Multisystemic Involvement and Glomerulopathy 3
1026 MRP003 Marphanoid Syndrome Type De Silva 2
1027 NNG004 Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature 2
1028 P MLN066 Melanoma, Cutaneous Malignant 1 67
1029 c MLN043 Melanoma, Cutaneous Malignant 8 43
1030 c MLN067 Melanoma, Cutaneous Malignant 2 29
1031 c MLN075 Melanoma, Cutaneous Malignant 3 27
1032 c MLN055 Melanoma, Cutaneous Malignant 10 26
1033 c MLN077 Melanoma, Cutaneous Malignant 9 23
1034 c MLN076 Melanoma, Cutaneous Malignant 5 22
1035 c MLN042 Melanoma, Cutaneous Malignant 6 21
1036 c MLN040 Melanoma, Cutaneous Malignant 7 18
1037 c MLN074 Melanoma, Cutaneous Malignant 4 17
1038 RNL112 Renal, Genital, and Middle Ear Anomalies 23
1039 PLN006 Poland Syndrome 46
1040 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 45
1041 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
1042 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 52
1043 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 49
1044 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 46
1045 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 24
1046 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 66
1047 ADR005 Adrenal Carcinoma 60
1048 ISV001 Isovaleric Acidemia 57
1049 LMY014 Leiomyoma, Uterine 56
1050 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 54
1051 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 48
1052 FRC005 Fructosuria, Essential 45
1053 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1054 c JBR027 Joubert Syndrome 16 39
1055 BLB005 Beaulieu-Boycott-Innes Syndrome 38
1056 EPD025 Epidermolysis Bullosa with Pyloric Atresia 35
1057 TBS001 Tabes Dorsalis 32
1058 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 32
1059 LMB076 Lumbar Syndrome 27
1060 HYP481 Hyperbiliverdinemia 26
1061 FCL093 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 25
1062 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 9
1063 FRS005 Fraser Jequier Chen Syndrome 6
1064 BLD018 Bladder Hepatoid Adenocarcinoma 5
1065 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
1066 P RTN008 Retinitis Pigmentosa 80
1067 P NNN008 Noonan Syndrome 1 76
1068 P KDN018 Kidney Disease 75
1069 VNH007 Von Hippel-Lindau Syndrome 73
1070 ALP103 Alpha-1-Antitrypsin Deficiency 70
1071 P PLY014 Polycystic Kidney Disease 70
1072 c ATS347 Autosomal Dominant Polycystic Kidney Disease 69
1073 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
1074 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
1075 CHL065 Cholangiocarcinoma 68
1076 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1077 LWC002 Lowe Oculocerebrorenal Syndrome 67
1078 P GLC113 Galactosemia I 66
1079 P PLL001 Pallister-Hall Syndrome 66
1080 P AMY004 Amyloidosis 66
1081 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1082 RHB001 Rhabdoid Cancer 65
1083 NPH091 Nephrolithiasis, Calcium Oxalate 63
1084 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1085 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1086 P CTR002 Cataract 60
1087 MCK005 Mckusick-Kaufman Syndrome 60
1088 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1089 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
1090 MMB001 Membranoproliferative Glomerulonephritis 58
1091 c RBN021 Rubinstein-Taybi Syndrome 1 57
1092 PRL032 Perlman Syndrome 57
1093 PRN038 Prune Belly Syndrome 57
1094 P HYP726 Hypercalcemia, Infantile, 1 56
1095 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
1096 PRP082 Porphyria, Congenital Erythropoietic 56
1097 c GLC111 Galactosemia Ii 55
1098 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 55
1099 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 54
1100 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
1101 c GLC112 Galactosemia Iii 53
1102 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 53
1103 P HML001 Hemolytic-Uremic Syndrome 53
1104 c NNN010 Noonan Syndrome 3 52
1105 P MMB011 Membranous Nephropathy 51
1106 CKT002 Cakut 51
1107 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
1108 P FNC026 Fanconi Renotubular Syndrome 1 51
1109 c RNL122 Renal Hypodysplasia/aplasia 3 51
1110 HPT014 Hepatorenal Syndrome 50
1111 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1112 RNL011 Renal Osteodystrophy 50
1113 ONC007 Oncocytoma 49
1114 BLD044 Bladder Disease 49
1115 c DBT108 Diabetes Insipidus, Nephrogenic, 2, Autosomal 49
1116 MTH078 Methylmalonic Aciduria, Cblb Type 49
1117 c JVN041 Juvenile Nephronophthisis 49
1118 c RBN018 Robinow Syndrome, Autosomal Dominant 1 49
1119 c NPH019 Nephronophthisis 1 49
1120 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 48
1121 c RTN041 Retinitis Pigmentosa 11 48
1122 P TTR031 Tetraamelia Syndrome 48
1123 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
1124 P HYP761 Hypouricemia, Renal, 1 47
1125 c RTN172 Retinitis Pigmentosa 1 47
1126 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
1127 c CTR103 Cataract 4, Multiple Types 47
1128 c CTR098 Cataract 1, Multiple Types 47
1129 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
1130 c RTN162 Retinitis Pigmentosa 2 47
1131 c RTN042 Retinitis Pigmentosa 12 46
1132 c RTN141 Retinitis Pigmentosa 39 46
1133 LPD004 Lipoid Nephrosis 46
1134 c RTN069 Retinitis Pigmentosa 7 46
1135 c RTN058 Retinitis Pigmentosa 3 45
1136 P RNL017 Renal Oncocytoma 45
1137 c RTN054 Retinitis Pigmentosa 25 45
1138 KDN015 Kidney Angiomyolipoma 45
1139 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 45
1140 c RTN055 Retinitis Pigmentosa 26 45
1141 c RTN043 Retinitis Pigmentosa 13 44
1142 c NPH075 Nephronophthisis 18 44
1143 47X004 47 Xxx Syndrome 44
1144 c CTR182 Cataract 23, Multiple Types 44
1145 c CTR096 Cataract 6, Multiple Types 44
1146 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 44
1147 c NPH067 Nephronophthisis 12 44
1148 MSN001 Mesangial Proliferative Glomerulonephritis 44
1149 c NNN009 Noonan Syndrome 2 44
1150 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44
1151 RNL078 Renal Dysplasia 43
1152 URT004 Urethral Syndrome 43
1153 c RTN044 Retinitis Pigmentosa 14 43
1154 P RNL015 Renal Hypertension 43
1155 c RTN066 Retinitis Pigmentosa 4 43
1156 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1157 HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 43
1158 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 43
1159 c CTR130 Cataract 9, Multiple Types 43
1160 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
1161 c NPH031 Nephronophthisis 3 42
1162 c NPH077 Nephronophthisis 19 42
1163 c HRD039 Hereditary Amyloidosis 42
1164 c RTN159 Retinitis Pigmentosa 45 42
1165 c NNN012 Noonan Syndrome 5 42
1166 P BTR001 Botryoid Rhabdomyosarcoma 42
1167 MDL009 Medullary Sponge Kidney 41
1168 ALP112 Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria 41
1169 c RTN157 Retinitis Pigmentosa 37 41
1170 c RTN177 Retinitis Pigmentosa 73 41
1171 c RTN050 Retinitis Pigmentosa 20 41
1172 c RTN142 Retinitis Pigmentosa 38 41
1173 KDN007 Kidney Clear Cell Sarcoma 41
1174 GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 41
1175 c RTN062 Retinitis Pigmentosa 33 41
1176 c RTN047 Retinitis Pigmentosa 18 41
1177 c NNN021 Noonan Syndrome 8 40
1178 c RTN090 Retinitis Pigmentosa 55 40
1179 c RBN008 Rubinstein-Taybi Syndrome 2 40
1180 c NNN011 Noonan Syndrome 4 40
1181 c RTN171 Retinitis Pigmentosa 59 40
1182 c CTR118 Cataract 14, Multiple Types 40
1183 OLG021 Oligomeganephronia 40
1184 RNL018 Renal Pelvis Carcinoma 40
1185 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 40
1186 c RTN085 Retinitis Pigmentosa 54 40
1187 c FCL026 Focal Segmental Glomerulosclerosis 2 40
1188 c CTR125 Cataract 7 39
1189 CHL070 Cholesterol Embolism 39
1190 c CTR132 Cataract 3, Multiple Types 39
1191 PNS014 Penis Agenesis 39
1192 c CTR115 Cataract 16, Multiple Types 39
1193 THR123 Thrombotic Microangiopathy 39
1194 c FCL028 Focal Segmental Glomerulosclerosis 5 39
1195 P HYP733 Hypercalciuria, Absorptive, 2 39
1196 c RTN230 Retinitis Pigmentosa 88 39
1197 c CTR170 Cataract 30, Multiple Types 39
1198 OST004 Osteitis Fibrosa 38
1199 c CTR174 Cataract 40 38
1200 c PLL017 Pallister-Hall-Like Syndrome 38
1201 c CTR113 Cataract 11, Multiple Types 38
1202 c NNN020 Noonan Syndrome 7 38
1203 c RTN180 Retinitis Pigmentosa 74 38
1204 c RTN059 Retinitis Pigmentosa 30 38
1205 c RTN210 Retinitis Pigmentosa 50 38
1206 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 38
1207 c RTN048 Retinitis Pigmentosa 19 38
1208 CDQ001 Cauda Equina Syndrome 38
1209 c NPH033 Nephronophthisis 7 38
1210 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 38
1211 PDT035 Pediatric Systemic Lupus Erythematosus 38
1212 c RTN070 Retinitis Pigmentosa 9 38
1213 c CTR145 Cataract 44 37
1214 c FCL043 Focal Segmental Glomerulosclerosis 6 37
1215 APL032 Apolipoprotein a-Iv Associated Amyloidosis 37
1216 c RTN130 Retinitis Pigmentosa 46 37
1217 c RNL125 Renal Tubular Acidosis, Distal, 1 37
1218 NPH113 Nephroma 37
1219 c NNN025 Noonan Syndrome 10 36
1220 c RTN056 Retinitis Pigmentosa 28 36
1221 c RTN046 Retinitis Pigmentosa 17 36
1222 c RTN146 Retinitis Pigmentosa 62 36
1223 c NNN013 Noonan Syndrome 6 36
1224 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 36
1225 c PSD080 Pseudohypoaldosteronism Type 1 36
1226 IDP091 Idiopathic Nephrotic Syndrome 36
1227 c CTR129 Cataract 31, Multiple Types 36
1228 c CTR181 Cataract 18 35
1229 c RTN134 Retinitis Pigmentosa 40 35
1230 c RTN131 Retinitis Pigmentosa 27 35
1231 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
1232 c RTN052 Retinitis Pigmentosa 23 35
1233 c NPH086 Nephronophthisis 20 35
1234 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 35
1235 FBR099 Fibromuscular Dysplasia, Arterial 35
1236 c RTN166 Retinitis Pigmentosa 69 35
1237 c RTN150 Retinitis Pigmentosa 10 35
1238 c RTN237 Retinitis Pigmentosa 91 34
1239 c CTR122 Cataract 5, Multiple Types 34
1240 c CTR183 Cataract 38 34
1241 c RTN217 Retinitis Pigmentosa 83 34
1242 c INF147 Infantile Nephronophthisis 34
1243 c RTN152 Retinitis Pigmentosa 66 34
1244 P HRD020 Hereditary Renal Cell Carcinoma 34
1245 c RTN176 Retinitis Pigmentosa 71 34
1246 c RNG029 Ring Chromosome 14 Syndrome 34
1247 c RTN114 Retinitis Pigmentosa 58 34
1248 c CTR095 Cataract 8, Multiple Types 34
1249 MSC020 Mosaic Trisomy 8 34
1250 c NNN024 Noonan Syndrome 9 33
1251 c RTN149 Retinitis Pigmentosa 42 33
1252 c RTN186 Retinitis Pigmentosa 75 33
1253 c NNN034 Noonan Syndrome 12 33
1254 P RNL115 Renal Tubular Acidosis, Proximal 33
1255 c PSD093 Pseudohypoaldosteronism, Type Iid 33
1256 c RTN060 Retinitis Pigmentosa 31 33
1257 c RNG008 Ring Chromosome 13 33
1258 c FCL027 Focal Segmental Glomerulosclerosis 3 33
1259 c CTR102 Cataract 2, Multiple Types 33
1260 c RNG023 Ring Chromosome 7 33
1261 c RTN227 Retinitis Pigmentosa 86 32
1262 c CTR131 Cataract 17, Multiple Types 32
1263 c FML324 Familial Porphyria Cutanea Tarda 32
1264 c RTN234 Retinitis Pigmentosa 90 32
1265 c RTN165 Retinitis Pigmentosa 68 32
1266 c RNL113 Renal Failure, Progressive, with Hypertension 32
1267 c RNG018 Ring Chromosome 22 32
1268 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
1269 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1270 c RTN233 Retinitis Pigmentosa 89 32
1271 SRC002 Sarcomatoid Renal Cell Carcinoma 32
1272 c RTN218 Retinitis Pigmentosa 84 32
1273 c CTR187 Cataract 48 32
1274 KDN019 Kidney Sarcoma 32
1275 c CTR111 Cataract 36 32
1276 c CTR185 Cataract 30 32
1277 c RTN144 Retinitis Pigmentosa 61 31
1278 c RTN061 Retinitis Pigmentosa 32 31
1279 c NNN036 Noonan Syndrome 13 31
1280 c RTN140 Retinitis Pigmentosa 67 31
1281 c RTN064 Retinitis Pigmentosa 35 31
1282 c CTR124 Cataract 10, Multiple Types 31
1283 c RTN190 Retinitis Pigmentosa 76 31
1284 c RTN106 Retinitis Pigmentosa 51 31
1285 c RTN116 Retinitis Pigmentosa 56 31
1286 c FCL055 Focal Segmental Glomerulosclerosis 9 31
1287 c RNG017 Ring Chromosome 21 31
1288 c RTN117 Retinitis Pigmentosa 57 31
1289 TTR027 Tetrasomy 15q26 31
1290 URC005 Urachal Cyst 30
1291 c RTN192 Retinitis Pigmentosa 77 30
1292 c RTN178 Retinitis Pigmentosa 72 30
1293 c RTN057 Retinitis Pigmentosa 29 30
1294 c RNG004 Ring Chromosome 1 30
1295 c RTN067 Retinitis Pigmentosa 41 30
1296 c CTR175 Cataract 24 30
1297 c RTN160 Retinitis Pigmentosa 60 30
1298 c RTN133 Retinitis Pigmentosa 43 30
1299 c NNN029 Noonan Syndrome 11 30
1300 PRL004 Prolapse of Urethra 30
1301 c CTR119 Cataract 32, Multiple Types 30
1302 KDN016 Kidney Benign Neoplasm 30
1303 c GLC115 Galactosemia Iv 30
1304 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 29
1305 RCM003 Recombinant Chromosome 8 Syndrome 29
1306 c RTN136 Retinitis Pigmentosa 44 29
1307 c RTN213 Retinitis Pigmentosa 80 29
1308 c RTN065 Retinitis Pigmentosa 36 29
1309 RNL013 Renal Adenoma 29
1310 c RNG022 Ring Chromosome 6 29
1311 NPH001 Nephrogenic Adenoma 29
1312 PNL023 Penile Agenesis 29
1313 c RNG007 Ring Chromosome 12 29
1314 c RTN129 Retinitis Pigmentosa 49 29
1315 c CTR141 Cataract 21, Multiple Types 29
1316 IDP073 Idiopathic Hypercalciuria 29
1317 c RNG020 Ring Chromosome 4 28
1318 BLD030 Bladder Tuberculosis 28
1319 c RNG024 Ring Chromosome 8 28
1320 c RNG005 Ring Chromosome 10 28
1321 c NPH065 Nephronophthisis 13 28
1322 c RTN143 Retinitis Pigmentosa 47 28
1323 c PSD068 Pseudohypoaldosteronism, Type Iic 27
1324 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 27
1325 c RTN219 Retinitis Pigmentosa 85 27
1326 c CTR180 Cataract 22, Multiple Types 27
1327 PCM002 Pauci-Immune Glomerulonephritis 27
1328 P RNG032 Ring Chromosome 27
1329 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1330 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 26
1331 c CTR116 Cataract 15, Multiple Types 26
1332 KDN009 Kidney Fibrosarcoma 26
1333 c RNG013 Ring Chromosome 18 26
1334 BRK013 Birk-Landau-Perez Syndrome 26
1335 c RTN068 Retinitis Pigmentosa 6 26
1336 c TTR028 Tetraamelia Syndrome 1 26
1337 c CTR105 Cataract 12, Multiple Types 26
1338 c CTR166 Cataract 33, Multiple Types 26
1339 c CTR121 Cataract 25 26
1340 c CTR097 Cataract 34, Multiple Types 26
1341 IMM053 Immunotactoid Glomerulopathy 25
1342 CHR082 Chromophil Adenoma of the Kidney 25
1343 c RTN169 Retinitis Pigmentosa 70 25
1344 c RTN053 Retinitis Pigmentosa 24 25
1345 c RNG010 Ring Chromosome 15 25
1346 c RNG016 Ring Chromosome 20 25
1347 c TTR029 Tetraamelia Syndrome 2 25
1348 P HYP868 Hypophosphatemic Nephrolithiasis/osteoporosis 25
1349 P ADL099 Adult Cystic Nephroma 24
1350 ARD001 Aredyld 24
1351 c NNN038 Noonan Syndrome 14 24
1352 HVY003 Heavy Chain Deposition Disease 24
1353 c RNG006 Ring Chromosome 11 24
1354 SNR014 Senior-Boichis Syndrome 24
1355 c CTR169 Cataract 29 24
1356 c RTN051 Retinitis Pigmentosa 22 24
1357 c CTR165 Cataract 19, Multiple Types 24
1358 CLL007 Cellular Congenital Mesoblastic Nephroma 24
1359 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 24
1360 c CTR162 Cataract 47 23
1361 c RNG015 Ring Chromosome 2 23
1362 c CTR136 Cataract 41 23
1363 c RTN147 Retinitis Pigmentosa 48 23
1364 c RTN195 Retinitis Pigmentosa 79 23
1365 c CTR157 Cataract 28 23
1366 c CTR158 Cataract 37 23
1367 c FNC049 Fanconi Renotubular Syndrome 3 23
1368 c RNG019 Ring Chromosome 3 23
1369 c RNG025 Ring Chromosome 9 22
1370 CLR112 Clear Cell Papillary Renal Cell Carcinoma 22
1371 c RNG021 Ring Chromosome 5 22
1372 c CTR184 Cataract 39, Multiple Types 22
1373 c CTR106 Cataract 20, Multiple Types 22
1374 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 22
1375 c RTN148 Retinitis Pigmentosa 63 22
1376 c CTR110 Cataract 26, Multiple Types 22
1377 c MGC011 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 22
1378 c RNG012 Ring Chromosome 17 22
1379 OCL043 Oculorenocerebellar Syndrome 21
1380 c CTR160 Cataract 45 21
1381 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 21
1382 c RTN214 Retinitis Pigmentosa 81 21
1383 NPH008 Nephrogenic Adenoma of the Urethra 21
1384 c RTN196 Retinitis Pigmentosa 78 21
1385 c CTR144 Cataract 43 21
1386 c CTR178 Cataract 27 21
1387 NNF008 Non-Functioning Paraganglioma 21
1388 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 20
1389 c CTR128 Cataract 33 20
1390 c CTR159 Cataract 35 20
1391 c CTR139 Cataract 42 20
1392 IDP096 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance 20
1393 EXT063 Extrapelvic Endometriosis 20
1394 c RNG011 Ring Chromosome 16 19
1395 c RTN239 Retinitis Pigmentosa 93 19
1396 c RTN063 Retinitis Pigmentosa 34 19
1397 LSS041 Lessel-Kubisch Syndrome 19
1398 c RNG014 Ring Chromosome 19 19
1399 P RBN007 Rubinstein Taybi Like Syndrome 19
1400 c RTN238 Retinitis Pigmentosa 92 19
1401 c FML284 Familial Vesicoureteral Reflux 19
1402 16P008 16p11.2 Duplication 19
1403 XLN243 X-Linked Nephrolithiasis Type I 19
1404 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 19
1405 c CTR190 Cataract 49 18
1406 HYP877 Hypokalemic Tubulopathy and Deafness 18
1407 c RNG031 Ring Chromosome Y Syndrome 18
1408 AFB003 Afib Amyloidosis 18
1409 c PRM150 Primary Localized Amyloidosis 18
1410 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
1411 c HYP809 Hypercalciuria, Absorptive, 1 18
1412 FLT007 Flotch Syndrome 18
1413 c HYD071 Hydrocephalus, Normal-Pressure, 1 18
1414 LCT008 Lactate Dehydrogenase Deficiency 17
1415 INF182 Infection-Related Hemolytic Uremic Syndrome 17
1416 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 17
1417 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 17
1418 c RTN240 Retinitis Pigmentosa 95 16
1419 c NNS043 Nonsyndromic Retinitis Pigmentosa 16
1420 DBT109 Diabetes Insipidus, Neurohypophyseal, X-Linked 15
1421 URC013 Urachal Diverticulum 15
1422 MLT112 Multiloculated Renal Cyst 15
1423 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 14
1424 CHR197 Chromosome 15, Trisomy Mosaicism 13
1425 RNL107 Renal Dysplasia, Bilateral 12
1426 CNG337 Congenital Renal Artery Stenosis 12
1427 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 12
1428 PCM003 Pauci-Immune Glomerulonephritis Without Anca 12
1429 c GL3002 Gli3-Related Pallister-Hall Syndrome 11
1430 PRM376 Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome 10
1431 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 10
1432 RNL106 Renal Dysplasia, Unilateral 10
1433 P BNG003 Benign Hypertensive Renal Disease 10
1434 RRR011 Rare Renal Tubular Disease 10
1435 RNL108 Renal Hypoplasia, Unilateral 9
1436 HYP887 Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation 9
1437 ANT036 Anti-Hla Hyperimmunization 8
1438 STR009 Stromal Predominant Kidney Wilms' Tumor 8
1439 c ADL031 Adult Botryoid Rhabdomyosarcoma 8
1440 BLS005 Blastema Predominant Kidney Wilms' Tumor 7
1441 KDN003 Kidney Lipoma 7
1442 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
1443 CLS004 Classic Congenital Mesoblastic Nephroma 6
1444 PCM004 Pauci-Immune Glomerulonephritis with Anca 6
1445 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
1446 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
1447 c CTR008 Cataract Congenital Autosomal Dominant 5
1448 MTC002 Metachronous Kidney Wilms' Tumor 5
1449 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 5
1450 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1451 RNL020 Renal Pelvis Urothelial Papilloma 4
1452 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
1453 CNG331 Congenital Bilateral Megacalycosis 4
1454 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1455 IDP094 Idiopathic Multidrug-Resistant Nephrotic Syndrome 3
1456 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
1457 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
1458 DCR011 Dicer1 Syndrome 49
1459 GRC001 Gracile Syndrome 53
1460 GLT007 Glutathione Synthetase Deficiency 51
1461 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 48
1462 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
1463 c SYS001 Systemic Lupus Erythematosus 87
1464 RNL114 Renal Cell Carcinoma, Nonpapillary 80
1465 NRF008 Neurofibromatosis-Noonan Syndrome 79
1466 P SRC025 Sarcoidosis 1 71
1467 c HPT073 Hepatitis C Virus 70
1468 P HML033 Hemolytic Uremic Syndrome, Atypical 1 70
1469 P ALP004 Alport Syndrome 67
1470 c PSD108 Pseudohypoparathyroidism, Type Ia 67
1471 ADR016 Adrenal Cortical Carcinoma 66
1472 P HPT021 Hepatitis 65
1473 CYS013 Cystinuria 65
1474 CLL002 Collecting Duct Carcinoma 64
1475 c HPT001 Hepatitis C 63
1476 c HPT016 Hepatitis B 63
1477 P HYP069 Hyperparathyroidism 63
1478 P ANR048 Aniridia 1 62
1479 P KDN017 Kidney Cancer 62
1480 c HPT003 Hepatitis a 62
1481 c ATM011 Autoimmune Hepatitis 62
1482 P DRM010 Dermatomyositis 61
1483 P LPS004 Lupus Erythematosus 61
1484 c HPT015 Hepatitis D 60
1485 P GLM007 Glomerulonephritis 60
1486 GST045 Gastroenteritis 59
1487 P FCL005 Focal Segmental Glomerulosclerosis 59
1488 RNL051 Renal Cysts and Diabetes Syndrome 58
1489 P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 57
1490 PTS001 Patau Syndrome 57
1491 PSD014 Pseudopseudohypoparathyroidism 57
1492 c PSD066 Pseudohypoparathyroidism, Type Ib 56
1493 ALP077 Alpha-Methylacetoacetic Aciduria 55
1494 P PSD015 Pseudohypoparathyroidism 55
1495 P DST107 Distal Renal Tubular Acidosis 55
1496 RLP001 Relapsing Polychondritis 54
1497 P HYP260 Hypophosphatemic Rickets, Autosomal Dominant 54
1498 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 54
1499 c THR124 Thrombotic Thrombocytopenic Purpura, Hereditary 53
1500 P HYP076 Hyperthyroidism 53
1501 c VRL010 Viral Hepatitis 53
1502 c HPT007 Hepatitis E 52
1503 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
1504 MTH077 Methylmalonic Aciduria, Cbla Type 50
1505 c XNT010 Xanthinuria, Type I 50
1506 c SRC023 Sarcoidosis 2 50
1507 P SPS133 Spastic Paraplegia 2, X-Linked 49
1508 OCL069 Ocular Motor Apraxia 48
1509 HYP550 Hypomagnesemia 1, Intestinal 48
1510 P XLN231 X-Linked Alport Syndrome 48
1511 P HYP534 Hypomagnesemia 3, Renal 48
1512 P XNT004 Xanthinuria 47
1513 c FCL025 Focal Segmental Glomerulosclerosis 1 47
1514 MLT084 Multicystic Dysplastic Kidney 47
1515 BLD130 Bladder Exstrophy 47
1516 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 47
1517 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 46
1518 VTR016 Vater/vacterl Association 46
1519 IMN001 Iminoglycinuria 45
1520 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 45
1521 CNG029 Congenital Mesoblastic Nephroma 45
1522 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1523 P TRN034 Transverse Myelitis 45
1524 c NPH053 Nephronophthisis 11 45
1525 c SYS043 Systemic Lupus Erythematosus 1 44
1526 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 43
1527 c ATS015 Autosomal Dominant Alport Syndrome 43
1528 MYH015 Myh-9 Related Disease 42
1529 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
1530 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 42
1531 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 42
1532 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 41
1533 c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 41
1534 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 41
1535 ADN020 Adenosarcoma 40
1536 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 40
1537 c SYS061 Systemic Lupus Erythematosus 16 39
1538 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1539 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 38
1540 c FCL085 Focal Segmental Glomerulosclerosis 7 37
1541 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 37
1542 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 37
1543 c CNG002 Congenital Bile Acid Synthesis Defect 37
1544 KDN002 Kidney Rhabdoid Cancer 36
1545 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 36
1546 RHY001 Rhyns Syndrome 36
1547 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 35
1548 OCL033 Oculocerebral Syndrome with Hypopigmentation 35
1549 CHL010 Childhood Kidney Cell Carcinoma 35
1550 TRL002 Tarlov Cysts 35
1551 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 34
1552 c ADL027 Adult Dermatomyositis 34
1553 c ATM045 Autoimmune Glomerulonephritis 34
1554 CNG064 Congenital Chloride Diarrhea 34
1555 c ACT159 Acute Transverse Myelitis 33
1556 RNL019 Renal Pelvis Transitional Cell Carcinoma 33
1557 c PRP091 Porphyria Cutanea Tarda, Type I 32
1558 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 31
1559 KRN001 Korean Hemorrhagic Fever 31
1560 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 31
1561 DBL008 Double Uterus-Hemivagina-Renal Agenesis 31
1562 c SPS062 Spastic Paraplegia 34, X-Linked 31
1563 c FCL091 Focal Segmental Glomerulosclerosis 10 30
1564 c SPS198 Spastic Paraplegia 16, X-Linked 29
1565 IDP085 Idiopathic Infantile Hypercalcemia 29
1566 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 29
1567 IMM236 Immune-Mediated Thrombotic Thrombocytopenic Purpura 29
1568 c PSD104 Pseudohypoparathyroidism, Type Ii 29
1569 c FNC066 Fanconi Renotubular Syndrome 5 29
1570 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28
1571 MCR310 Microgastria-Limb Reduction Defects Association 28
1572 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
1573 OST168 Osteosclerotic Metaphyseal Dysplasia 28
1574 DPH012 Diphallia 28
1575 c ANR047 Aniridia 2 28
1576 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 28
1577 c HML034 Hemolytic Uremic Syndrome, Atypical 3 27
1578 FBR085 Fibrillary Glomerulonephritis 27
1579 IGG011 Igg4-Related Kidney Disease 26
1580 c HML037 Hemolytic Uremic Syndrome, Atypical 5 26
1581 c HML032 Hemolytic Uremic Syndrome, Atypical 4 26
1582 STN006 Steinfeld Syndrome 26
1583 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
1584 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 25
1585 RNL009 Renal Pelvis Squamous Cell Carcinoma 24
1586 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 24
1587 c SYS081 Systemic Lupus Erythematosus 17 24
1588 c MYR005 Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 23
1589 RNL004 Renal Pelvis Adenocarcinoma 23
1590 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 23
1591 c SYS040 Systemic Lupus Erythematosus 10 22
1592 c SYS038 Systemic Lupus Erythematosus 2 22
1593 c SYS069 Systemic Lupus Erythematosus 6 22
1594 c ANR046 Aniridia 3 20
1595 c ATM112 Autoimmune Hepatitis Type 1 20
1596 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 20
1597 P DSR081 Disorder of Bile Acid Synthesis 19
1598 c SYS041 Systemic Lupus Erythematosus 9 19
1599 ANR043 Aniridia and Absent Patella 19
1600 TBL026 Tubulocystic Renal Cell Carcinoma 19
1601 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
1602 c FML028 Familial Renal Oncocytoma 19
1603 APM002 Aapoai Amyloidosis 18
1604 c SRC024 Sarcoidosis 3 18
1605 THY105 Thyrocerebroretinal Syndrome 18
1606 c ATM111 Autoimmune Hepatitis Type 2 18
1607 c SYS065 Systemic Lupus Erythematosus 11 18
1608 FTL074 Fetal Lower Urinary Tract Obstruction 18
1609 c SYS046 Systemic Lupus Erythematosus 3 18
1610 c SYS048 Systemic Lupus Erythematosus 8 17
1611 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 17
1612 FTZ004 Fitzsimmons Walson Mellor Syndrome 17
1613 c SYS053 Systemic Lupus Erythematosus 5 17
1614 c SYS051 Systemic Lupus Erythematosus 4 16
1615 GRH002 Graham Boyle Troxell Syndrome 16
1616 c SYS055 Systemic Lupus Erythematosus 12 16
1617 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
1618 c SYS052 Systemic Lupus Erythematosus 13 15
1619 RRR010 Rare Renal Tumor 15
1620 c MLG055 Malignant Cystic Nephroma 14
1621 c PX6002 Pax6-Related Aniridia 14
1622 c SYS047 Systemic Lupus Erythematosus 7 14
1623 KDN008 Kidney Pelvis Papillary Carcinoma 14
1624 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1625 KDN026 Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome 13
1626 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
1627 c SYS045 Systemic Lupus Erythematosus 14 13
1628 KDN010 Kidney Osteogenic Sarcoma 13
1629 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
1630 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 12
1631 c SYS067 Systemic Lupus Erythematosus 15 11
1632 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 10
1633 c RRH008 Rare Hyperthyroidism 8
1634 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
1635 HRD003 Hereditary Conventional Renal Cell Carcinoma 8
1636 c KDN012 Kidney Carcinoma in Situ 7
1637 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 7
1638 c MLG004 Malignant Hypertensive Renal Disease 6
1639 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 4
1640 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
1641 IDP098 Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy 4
1642 DRG019 Drug-Related Renal Tubular Dysgenesis 4
1643 INH026 Inherited Renal Cancer-Predisposing Syndrome 4
1644 STD001 Setd2-Related Microcephaly-Severe Intellectual Disability-Multiple Congenital Anomalies Syndrome 3
1645 HMT022 Hematological Disorder with Renal Involvement 3
1646 URN009 Urinary System Disease 51
1647 P SYS005 Systemic Scleroderma 73
1648 P LVR013 Liver Disease 71
1649 c BTT014 Beta-Thalassemia 70
1650 SMT004 Smith-Lemli-Opitz Syndrome 69
1651 c HRD010 Hereditary Spastic Paraplegia 68
1652 c WLM013 Wilms Tumor 1 68
1653 P PRP003 Porphyria Cutanea Tarda 68
1654 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 67
1655 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 66
1656 ALS001 Alstrom Syndrome 66
1657 P END044 Endometriosis 64
1658 HJD001 Hajdu-Cheney Syndrome 64
1659 c HYP794 Hyperoxaluria, Primary, Type I 64
1660 c ALP101 Alpha-Thalassemia 63
1661 P RNL100 Renal Hypodysplasia/aplasia 1 63
1662 c PRT132 Protoporphyria, Erythropoietic, 1 62
1663 P THL005 Thalassemia 62
1664 c SCL052 Scleroderma, Familial Progressive 62
1665 AMY082 Amyloidosis, Familial Visceral 61
1666 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
1667 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 61
1668 SCH016 Schimke Immunoosseous Dysplasia 61
1669 NLP001 Nail-Patella Syndrome 61
1670 P NPH007 Nephrogenic Diabetes Insipidus 61
1671 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 61
1672 c LCL006 Localized Scleroderma 61
1673 P PRM002 Primary Hyperoxaluria 60
1674 P PRP029 Porphyria 60
1675 FRC011 Fructose Intolerance, Hereditary 59
1676 ADL030 Adult-Onset Still's Disease 59
1677 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
1678 P MLG056 Malignant Hyperthermia 58
1679 CPR004 Coproporphyria, Hereditary 58
1680 ADR049 Adrenal Hypoplasia, Congenital 57
1681 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
1682 c ACT134 Acute Liver Failure 57
1683 P TWN003 Townes-Brocks Syndrome 56
1684 c CNT122 Central Diabetes Insipidus 56
1685 P URF003 Urofacial Syndrome 1 55
1686 c AML044 Amelogenesis Imperfecta, Type Ig 55
1687 P AML002 Amelogenesis Imperfecta 55
1688 CHR177 Chromophobe Renal Cell Carcinoma 55
1689 ADN024 Adenine Phosphoribosyltransferase Deficiency 55
1690 c LTH007 Lethal Congenital Contracture Syndrome 1 53
1691 DNB001 Danubian Endemic Familial Nephropathy 53
1692 c ACT078 Acute Porphyria 52
1693 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 52
1694 MYL020 Myelomeningocele 52
1695 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1696 PLM017 Pulmonary Alveolar Microlithiasis 52
1697 ARC002 Arachnoiditis 51
1698 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
1699 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
1700 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
1701 c HRD227 Hereditary Spastic Paraplegia 35 50
1702 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49
1703 c 3MT014 3-Methylglutaconic Aciduria, Type V 49
1704 c BRT042 Bartter Syndrome, Type 3 48
1705 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
1706 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
1707 c 3MT015 3-Methylglutaconic Aciduria, Type I 47
1708 c HYP210 Hypomagnesemia 2, Renal 47
1709 c PSD092 Pseudohypoaldosteronism, Type Iie 47
1710 c MLG147 Malignant Hyperthermia 1 47
1711 c BRT052 Bartter Syndrome, Type 1, Antenatal 47
1712 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
1713 HYP648 Hypertension and Brachydactyly Syndrome 45
1714 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
1715 c INF145 Infantile Liver Failure Syndrome 1 45
1716 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
1717 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
1718 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
1719 c TBL032 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 45
1720 c HRD220 Hereditary Spastic Paraplegia 30 45
1721 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
1722 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
1723 RNL127 Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 44
1724 CLC011 Cloacal Exstrophy 44
1725 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 44
1726 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
1727 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
1728 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 43
1729 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
1730 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1731 P HYP347 Hypotonia-Cystinuria Syndrome 43
1732 c JBR018 Joubert Syndrome 4 43
1733 P SLL003 Salla Disease 43
1734 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
1735 CTY001 Cat Eye Syndrome 43
1736 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
1737 c AML057 Amelogenesis Imperfecta, Type Iiia 42
1738 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 42
1739 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
1740 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
1741 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
1742 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
1743 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
1744 PTT002 Potter's Syndrome 41
1745 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
1746 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1747 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
1748 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
1749 c XNT011 Xanthinuria, Type Ii 40
1750 c LVR030 Liver Failure, Infantile, Transient 40
1751 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
1752 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
1753 P LTH003 Lethal Congenital Contracture Syndrome 39
1754 c AML020 Amelogenesis Imperfecta, Type Iv 39
1755 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
1756 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
1757 c LTH008 Lethal Congenital Contracture Syndrome 2 38
1758 c DNT021 Dent Disease 2 38
1759 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1760 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 38
1761 c AML061 Amelogenesis Imperfecta, Type Ie 38
1762 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 38
1763 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
1764 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
1765 ONC003 Oncogenic Osteomalacia 37
1766 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 37
1767 P GLM015 Glomerulopathy with Fibronectin Deposits 2 37
1768 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
1769 c LTH026 Lethal Congenital Contracture Syndrome 4 36
1770 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 36
1771 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
1772 c AML017 Amelogenesis Imperfecta, Type Ib 36
1773 c AML047 Amelogenesis Imperfecta, Type Ia 36
1774 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
1775 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
1776 c 3MT025 3-Methylglutaconic Aciduria, Type Viib 35
1777 c HRD229 Hereditary Spastic Paraplegia 56 35
1778 TBL025 Tubulointerstitial Nephritis with Uveitis 35
1779 c SPS092 Spastic Paraplegia 11 35
1780 HMX003 Heme Oxygenase 1 Deficiency 34
1781 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 34
1782 P ACR072 Acrorenal Syndrome 34
1783 P SPS012 Spastic Paraplegia 3a 34
1784 c HRD226 Hereditary Spastic Paraplegia 49 33
1785 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1786 c SPS025 Spastic Paraplegia 15 32
1787 c AML018 Amelogenesis Imperfecta, Type Ic 32
1788 c INF194 Infantile Liver Failure Syndrome 31
1789 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 31
1790 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
1791 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
1792 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
1793 c INF138 Infantile Liver Failure Syndrome 2 31
1794 c MLG151 Malignant Hyperthermia 5 30
1795 c TBL033 Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 30
1796 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
1797 c AML064 Amelogenesis Imperfecta, Type Iiic 30
1798 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
1799 c HRD186 Hereditary Spastic Paraplegia 51 29
1800 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1801 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1802 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
1803 c HRD188 Hereditary Spastic Paraplegia 72 29
1804 CTN019 Cutaneous Polyarteritis Nodosa 29
1805 c SPS091 Spastic Paraplegia 4 29
1806 c LTH047 Lethal Congenital Contracture Syndrome 3 28
1807 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 28
1808 DPL007 Duplication of Urethra 28
1809 c ATS481 Autosomal Dominant Beta Thalassemia 27
1810 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1811 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1812 c MCK026 Meckel Syndrome 12 26
1813 FML029 Familial Renal Papillary Carcinoma 26
1814 c MLG148 Malignant Hyperthermia 2 26
1815 c LTH029 Lethal Congenital Contracture Syndrome 9 26
1816 c TWN010 Townes-Brocks Syndrome 2 26
1817 c WLM005 Wilms Tumor 2 26
1818 c LTH042 Lethal Congenital Contracture Syndrome 10 25
1819 c LTH032 Lethal Congenital Contracture Syndrome 7 25
1820 c LVR033 Liver Disease, Severe Congenital 25
1821 c LTH027 Lethal Congenital Contracture Syndrome 5 25
1822 c HRD156 Hereditary Central Diabetes Insipidus 25
1823 c LTH039 Lethal Congenital Contracture Syndrome 11 25
1824 c INF190 Infantile Liver Failure Syndrome 3 25
1825 c END071 Endometriosis 1 25
1826 FCC002 Faciocardiorenal Syndrome 25
1827 IMM247 Immunoglobulin Heavy Chain Amyloidosis 24
1828 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1829 c HRD210 Hereditary Spastic Paraplegia 23 24
1830 c AML050 Amelogenesis Imperfecta, Type if 24
1831 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1832 c SPS042 Spastic Paraplegia 9 24
1833 c SPS230 Spastic Paraplegia Type 49 23
1834 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
1835 c MLG149 Malignant Hyperthermia 3 23
1836 c ACQ034 Acquired Central Diabetes Insipidus 23
1837 c AML059 Amelogenesis Imperfecta, Type Ij 22
1838 c LTH031 Lethal Congenital Contracture Syndrome 6 22
1839 c AML048 Amelogenesis Imperfecta, Type Ih 22
1840 c 3MT026 3-Methylglutaconic Aciduria, Type Viia 22
1841 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
1842 c PRT135 Protoporphyria, Erythropoietic, 2 21
1843 LGH014 Light and Heavy Chain Deposition Disease 21
1844 c MLG150 Malignant Hyperthermia 4 21
1845 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 21
1846 c WLM017 Wilms Tumor 4 21
1847 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 20
1848 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
1849 c WLM015 Wilms Tumor 3 19
1850 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
1851 c MLG152 Malignant Hyperthermia 6 19
1852 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
1853 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 17
1854 c AML056 Amelogenesis Imperfecta, Type Iiib 17
1855 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
1856 P CNG348 Congenital Sialidosis Type 2 17
1857 c ACR115 Acrorenal Syndrome, Autosomal Recessive 16
1858 c CHR471 Chronic Hepatic Porphyria 16
1859 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1860 c FML094 Familial Wilms Tumor 2 15
1861 c AML063 Amelogenesis Imperfecta Type 2a1 15
1862 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1863 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
1864 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1865 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1866 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1867 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1868 c PRM222 Primary Polyarteritis Nodosa 14
1869 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1870 c AML067 Amelogenesis Imperfecta, Type Ik 13
1871 c SCN055 Secondary Polyarteritis Nodosa 12
1872 c INT094 Intermediate Severe Salla Disease 10
1873 SNG013 Single-Organ Polyarteritis Nodosa 9
1874 c ALP113 Alpha-Thalassemia and Related Disorders 8
1875 PRP089 Prp Systemic Amyloidosis 8
1876 c BTT015 Beta-Thalassemia and Related Diseases 7
1877 c SPS040 Spastic Paraplegia 5b 7
1878 c RRD027 Rare Disease with Malignant Hyperthermia 5
1879 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1880 SCK003 Sickle Cell Anemia 76
1881 P ALG028 Alagille Syndrome 1 74
1882 BHC003 Behcet Syndrome 74
1883 P TRN020 Turner Syndrome 70
1884 PRP083 Porphyria, Acute Intermittent 64
1885 LSC001 Lesch-Nyhan Syndrome 64
1886 TKY002 Takayasu Arteritis 64
1887 P DNT020 Dent Disease 1 63
1888 P OST001 Osteopetrosis 63
1889 P NPH005 Nephronophthisis 62
1890 RNL024 Renal Glucosuria 60
1891 c HYP731 Hyperaldosteronism, Familial, Type I 60
1892 BRG013 Buerger Disease 59
1893 c OST131 Osteopetrosis, Autosomal Dominant 2 58
1894 c PRM005 Primary Hyperparathyroidism 58
1895 VRG001 Variegate Porphyria 57
1896 P SNR003 Senior-Loken Syndrome 1 57
1897 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 56
1898 APP015 Apparent Mineralocorticoid Excess 56
1899 c OST163 Osteopetrosis, Autosomal Recessive 3 56
1900 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55
1901 P PRP056 Porphyria, Acute Hepatic 54
1902 PHS014 Phosphoglycerate Kinase 1 Deficiency 53
1903 HRT031 Hartnup Disorder 52
1904 INF034 Infective Endocarditis 52
1905 P CRY007 Cryoglobulinemia, Familial Mixed 52
1906 P TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 51
1907 c OST126 Osteopetrosis, Autosomal Recessive 1 50
1908 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 50
1909 c PSD047 Pseudo-Turner Syndrome 50
1910 c SCN007 Secondary Hyperparathyroidism 50
1911 c HYP597 Hyperprolinemia, Type Ii 48
1912 c OST129 Osteopetrosis, Autosomal Recessive 2 48
1913 RYN003 Reynolds Syndrome 48
1914 HYP870 Hyperuricemia, Hprt-Related 47
1915 c OST120 Osteopetrosis, Autosomal Recessive 5 47
1916 c HYP243 Hyperparathyroidism 1 46
1917 RNL119 Renal Cell Carcinoma, Xp11-Associated 45
1918 c OST136 Osteopetrosis, Autosomal Recessive 7 45
1919 c OST125 Osteopetrosis, Autosomal Dominant 1 44
1920 c OST134 Osteopetrosis, Autosomal Recessive 6 44
1921 c HYP248 Hyperprolinemia, Type I 44
1922 INF159 Infantile Sialic Acid Storage Disease 43
1923 HYP187 Hypertryptophanemia 42
1924 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 42
1925 c OST137 Osteopetrosis, Autosomal Recessive 4 41
1926 P HYP111 Hyperprolinemia 40
1927 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
1928 GST052 Gestational Choriocarcinoma 37
1929 c OST106 Osteopetrosis, Autosomal Recessive 8 34
1930 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
1931 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1932 LPP002 Lipoprotein Glomerulopathy 31
1933 c HYP708 Hyperaldosteronism, Familial, Type Iv 31
1934 P FML156 Familial Hyperaldosteronism 30
1935 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 30
1936 THV001 Thauvin-Robinet-Faivre Syndrome 27
1937 c HYP720 Hyperparathyroidism 4 27
1938 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 26
1939 EPD101 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 26
1940 RNL039 Renal Dysplasia-Limb Defects Syndrome 25
1941 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1942 LGH017 Leigh Syndrome with Nephrotic Syndrome 21
1943 c SNR011 Senior-Loken Syndrome 3 20
1944 THY044 Thymic-Renal-Anal-Lung Dysplasia 19
1945 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 19
1946 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 18
1947 c HYP311 Hyperparathyroidism 3 18
1948 c MXD051 Mixed Cryoglobulinemia Type Ii 17
1949 APM001 Aapoaii Amyloidosis 17
1950 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 16
1951 c CLC009 Clcn7-Related Osteopetrosis 14
1952 DNT019 Daentl Towsend Siegel Syndrome 14
1953 RNL032 Renal Caliceal Diverticuli Deafness 13
1954 c RRP004 Rare Primary Hyperaldosteronism 8
1955 c RRH011 Rare Hyperparathyroidism 5
1956 RNL065 Renal Cell Carcinoma, Papillary, 1 79
1957 c NRF024 Neurofibromatosis, Type I 77
1958 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
1959 c NRF023 Neurofibromatosis, Type Ii 70
1960 BRT002 Birt-Hogg-Dube Syndrome 64
1961 P NRF002 Neurofibromatosis 63
1962 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 63
1963 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 59
1964 P LDD007 Liddle Syndrome 1 59
1965 P LYM033 Lymphoproliferative Syndrome 58
1966 FRS002 Frasier Syndrome 57
1967 SRM004 Serum Amyloid a Amyloidosis 54
1968 FNC009 Fanconi-Bickel Syndrome 53
1969 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 50
1970 LMT001 Limited Scleroderma 50
1971 ARM010 Arima Syndrome 50
1972 MCR088 Microscopic Polyangiitis 49
1973 INT258 Interstitial Nephritis, Karyomegalic 49
1974 c LYM107 Lymphoproliferative Syndrome 2 48
1975 c LYM106 Lymphoproliferative Syndrome 1 47
1976 c ATS018 Autosomal Recessive Alport Syndrome 46
1977 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 43
1978 MRD002 Marden-Walker Syndrome 40
1979 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 39
1980 CHR554 Chromosome 17q11.2 Deletion Syndrome 34
1981 VNT030 Ventriculomegaly with Cystic Kidney Disease 33
1982 c LYM151 Lymphoproliferative Syndrome 3 32
1983 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 30
1984 LGH004 Light Chain Deposition Disease 30
1985 c LDD008 Liddle Syndrome 2 23
1986 c JVN046 Juvenile Polymyositis 23
1987 c LDD009 Liddle Syndrome 3 19
1988 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
1989 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 68
1990 CHR103 Charge Syndrome 66
1991 GTL001 Gitelman Syndrome 66
1992 GRN037 Granulomatosis with Polyangiitis 65
1993 WLL001 Williams-Beuren Syndrome 63
1994 c ORF040 Orofaciodigital Syndrome Viii 59
1995 P BRN006 Branchiootorenal Syndrome 57
1996 MXD005 Mixed Connective Tissue Disease 57
1997 c ORF034 Orofaciodigital Syndrome Vi 56
1998 P RNL028 Renal Tubular Dysgenesis 52
1999 c ORF035 Orofaciodigital Syndrome Iv 49
2000 P ORF001 Orofaciodigital Syndrome 49
2001 OLV001 Olivopontocerebellar Atrophy 48
2002 c ORF033 Orofaciodigital Syndrome V 47
2003 DLY010 Dialysis-Related Amyloidosis 44
2004 c ORF038 Orofaciodigital Syndrome Iii 40
2005 c ORF043 Orofaciodigital Syndrome Ix 38
2006 c ALG016 Alagille Syndrome 2 36
2007 c ORF036 Orofaciodigital Syndrome Xiv 31
2008 c ORF041 Orofaciodigital Syndrome X 28
2009 c ORF042 Orofaciodigital Syndrome Xi 26
2010 c ORF046 Orofaciodigital Syndrome Xvi 25
2011 c ORF051 Orofaciodigital Syndrome Xvii 25
2012 c ORF052 Orofaciodigital Syndrome Xviii 25
2013 c ORF045 Orofaciodigital Syndrome Xv 24
2014 c ORF039 Orofaciodigital Syndrome Vii 21
2015 c ORF054 Orofaciodigital Syndrome Xix 13
2016 c ORF006 Orofaciodigital Syndrome 13 13
2017 c ORF005 Orofaciodigital Syndrome 12 13
2018 c BRN138 Branchiootorenal Spectrum Disorder 11
2019 PTR032 Peters-Plus Syndrome 65
2020 ELL001 Ellis-Van Creveld Syndrome 65
2021 MCK007 Muckle-Wells Syndrome 64
2022 CHR001 Churg-Strauss Syndrome 61
2023 HYP880 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 59
2024 DNY001 Denys-Drash Syndrome 59
2025 IMM246 Immunoglobulin Light Chain Amyloidosis 57
2026 P CCH009 Coach Syndrome 1 56
2027 NRM019 Neuraminidase Deficiency 53
2028 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
2029 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 41
2030 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
2031 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 37
2032 EPD118 Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome 32
2033 c CCH010 Coach Syndrome 2 24
2034 c CCH011 Coach Syndrome 3 23
2035 P FML018 Familial Mediterranean Fever 75
2036 P RBN002 Robinow Syndrome 60
2037 c RBN022 Robinow Syndrome, Autosomal Recessive 1 56
2038 c RBN017 Robinow Syndrome, Autosomal Dominant 2 43
2039 c ATS082 Autosomal Dominant Robinow Syndrome 42
2040 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 41
2041 c RBN020 Robinow Syndrome, Autosomal Dominant 3 38
2042 MCR257 Microcephaly, Amish Type 36
2043 c RBN023 Robinow Syndrome, Autosomal Recessive 2 27
2044 c FML344 Familial Mediterranean Fever, Autosomal Dominant 26
2045 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 20
2046 c RR2001 Ror2-Related Robinow Syndrome 13



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