Nephrological Diseases Category (2005 diseases)


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

# Family MCID Name MIFTS
1 P BLD134 Bladder Cancer 79
2 RNL051 Renal Cysts and Diabetes Syndrome 57
3 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 41
4 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52
5 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 30
6 NRG002 Neurogenic Bladder 55
7 c MCR113 Microvascular Complications of Diabetes 3 52
8 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
9 BLD131 Bladder Urothelial Carcinoma 60
10 CNG116 Congenital Nephrotic Syndrome Finnish Type 30
11 BLD169 Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut 19
12 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 52
13 P HYP658 Hypoplastic Amelogenesis Imperfecta 28
14 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 21
15 BLD029 Bladder Dome Cancer 8
16 SML031 Small Cell Carcinoma of the Bladder 46
17 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
18 SPR001 Superficial Urinary Bladder Cancer 22
19 LWC001 Low Compliance Bladder 45
20 P IGN003 Iga Nephropathy 1 39
21 RNL127 Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 39
22 BLD049 Bladder Transitional Cell Papilloma 32
23 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 26
24 NPH002 Nephrogenic Adenoma of Urinary Bladder 23
25 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 20
26 BLD026 Bladder Trigone Cancer 6
27 c BLD008 Bladder Carcinoma in Situ 29
28 BLD047 Bladder Squamous Cell Carcinoma 25
29 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19
30 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 15
31 URN005 Urinary Bladder Villous Adenoma 21
32 JWT001 Jewett-Marshall Bladder Cancer 6
33 BNR003 Ben Ari Shuper Mimouni Syndrome 5
34 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 47
35 URN003 Urinary Schistosomiasis 46
36 c MCR112 Microvascular Complications of Diabetes 2 42
37 DCR008 Dicarboxylic Aminoaciduria 40
38 BLD025 Bladder Sarcoma 30
39 BLD130 Bladder Exstrophy 42
40 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
41 RNL097 Renal Artery Disease 40
42 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 27
43 c BKV001 Bk-Virus Nephropathy 22
44 BLD003 Bladder Lateral Wall Cancer 20
45 URN004 Urinary Bladder Inverted Papilloma 20
46 BLD046 Bladder Papillary Transitional Cell Neoplasm 19
47 c URN006 Urinary Bladder Posterior Wall Cancer 5
48 P URN007 Urinary Bladder Anterior Wall Cancer 5
49 CYS010 Cystinosis 62
50 c MCR120 Microvascular Complications of Diabetes 7 47
51 c MCR133 Microvascular Complications of Diabetes 4 41
52 c MCR130 Microvascular Complications of Diabetes 6 41
53 BLD023 Bladder Leiomyoma 32
54 BLD065 Blue Diaper Syndrome 20
55 NPH018 Nephrogenic Systemic Fibrosis 49
56 CYS045 Cystinosis, Adult Nonnephropathic 32
57 HNM002 Hinman Syndrome 27
58 BLD028 Bladder Lymphoma 24
59 RNL008 Renal Artery Atheroma 22
60 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 17
61 RDL030 Radial-Renal Syndrome 16
62 BRC111 Brachymesomelia-Renal Syndrome 15
63 BLD022 Bladder Flat Intraepithelial Lesion 5
64 P MCR129 Microvascular Complications of Diabetes 1 68
65 ALK013 Alkaptonuria 59
66 RTR011 Retroperitoneal Fibrosis 47
67 IMN001 Iminoglycinuria 41
68 ACR102 Acrorenal-Mandibular Syndrome 27
69 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 23
70 WBB001 Webb-Dattani Syndrome 23
71 c VRT017 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 22
72 c IGN004 Iga Nephropathy 3 22
73 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 19
74 DBL008 Double Uterus-Hemivagina-Renal Agenesis 18
75 P NTR004 Neutropenia 63
76 c SVR003 Severe Congenital Neutropenia 59
77 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
78 c PRG011 Progressive Myoclonus Epilepsy 41
79 URT031 Ureteral Disease 41
80 HYP348 Hyperglycinuria 38
81 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
82 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
83 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
84 PNT006 Pentosuria 35
85 P MYC026 Myoclonus Epilepsy 35
86 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 34
87 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
88 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
89 c PRG147 Progressive Myoclonus Epilepsy 8 27
90 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
91 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
92 c PRG140 Progressive Myoclonus Epilepsy 4 24
93 MGB001 Megabladder, Congenital 23
94 c PRG142 Progressive Myoclonus Epilepsy 3 23
95 c NTR045 Neutropenia, Chronic Familial 21
96 c SVR107 Severe Congenital Neutropenia 3 20
97 c SVR103 Severe Congenital Neutropenia 1 20
98 c PRG146 Progressive Myoclonus Epilepsy 9 19
99 BTM003 Beta-Aminoisobutyric Aciduria 19
100 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
101 c PRG143 Progressive Myoclonus Epilepsy 7 17
102 c PRG145 Progressive Myoclonus Epilepsy 6 17
103 c PRG148 Progressive Myoclonus Epilepsy 1a 16
104 c PRG141 Progressive Myoclonus Epilepsy 10 16
105 c SVR110 Severe Congenital Neutropenia 4 15
106 c SVR106 Severe Congenital Neutropenia 5 14
107 c ELN001 Elane-Related Neutropenia 13
108 c PRG144 Progressive Myoclonus Epilepsy 1b 13
109 c ACQ053 Acquired Neutropenia 12
110 c SVR109 Severe Congenital Neutropenia 8 11
111 c SVR105 Severe Congenital Neutropenia 2 11
112 c SVR108 Severe Congenital Neutropenia 6 9
113 c SVR104 Severe Congenital Neutropenia 7 8
114 GT001 Gout 64
115 P GLL020 Gallbladder Disease 56
116 URN010 Urinary Tract Obstruction 55
117 c GLL024 Gallbladder Disease 1 52
118 VCT001 Vacterl Association 47
119 HYP114 Hypertensive Nephropathy 36
120 HRS011 Horseshoe Kidney 31
121 c GLL027 Gallbladder Disease 4 27
122 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 22
123 P C1Q005 C1q Nephropathy 21
124 c IGN002 Iga Nephropathy 2 19
125 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 17
126 ATS492 Autosomal Dominant Tubulointerstitial Kidney Disease - Ren 16
127 ERY007 Erythropoietin Polycythemia 15
128 HST019 Histidinuria Due to a Renal Tubular Defect 15
129 BLR029 Biliary Malformation with Renal Tubular Insufficiency 14
130 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 12
131 c GLL026 Gallbladder Disease 3 12
132 RDR001 Radio Renal Syndrome 12
133 NNN004 Non-Invasive Bladder Urothelial Carcinoma 12
134 c GLL025 Gallbladder Disease 2 12
135 PLY043 Polyomavirus Allograft Nephropathy 11
136 BTM002 Beta-Amino Acids, Renal Transport of 11
137 ACT006 Acute Gonococcal Cystitis 10
138 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
139 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 8
140 NPH025 Nephrotic Syndrome Ocular Anomalies 8
141 GRN023 Green Sandford Davison Syndrome 7
142 HST012 Histidinuria Renal Tubular Defect 6
143 BLD011 Bladder Verrucous Squamous Cell Carcinoma 5
144 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 5
145 ACR045 Acro-Pectoro-Renal Field Defect 5
146 INB002 Inborn Renal Aminoaciduria 5
147 NNR001 Non-Renal Secondary Hyperparathyroidism 4
148 STN004 Stone in Bladder Diverticulum 4
149 NNT002 Neonatal Urinary Tract Infectious Disease 4
150 GNT076 Genetic Renal or Urinary Tract Malformation 2
151 GNT143 Genetic Non-Syndromic Renal or Urinary Tract Malformation 2
152 PRT251 Proteinuria, Chronic Benign 57
153 HST006 Histidinemia 48
154 ANG018 Angiomyolipoma 46
155 PRS042 Prostate Disease 42
156 PLV001 Pelvic Lipomatosis 30
157 HYD030 Hydroxykynureninuria 27
158 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 24
159 BRN121 Branchiootorenal/branchiootic Syndrome 21
160 BLD040 Bladder Benign Neoplasm 19
161 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 17
162 MPL011 Maple Syrup Urine Disease, Mild Variant 17
163 HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 16
164 SLC010 Salcedo Syndrome 10
165 LCH006 Lachiewicz Sibley Syndrome 5
166 PRS129 Prostatic Hyperplasia, Benign 49
167 CYS019 Cystathioninuria 46
168 HWK001 Hawkinsinuria 41
169 GLT014 Glutathionuria 37
170 PYR004 Pyuria 36
171 DNS007 Dense Deposit Disease 36
172 MLK004 Malakoplakia 33
173 c MYG007 Myoglobinuria, Recurrent 31
174 STR095 Structural Heart Defects and Renal Anomalies Syndrome 20
175 LNP001 Loin Pain Hematuria Syndrome 17
176 c MYG006 Myoglobinuria, Autosomal Dominant 15
177 P MPL001 Maple Syrup Urine Disease 70
178 P TMR010 Tumor Predisposition Syndrome 67
179 QFV001 Q Fever 62
180 P HYP726 Hypercalcemia, Infantile, 1 58
181 INV006 Inverted Papilloma 49
182 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 46
183 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 45
184 HMR023 Hemorrhagic Cystitis 43
185 c ORT011 Orthostatic Hypotension 1 43
186 TRP009 Triple X Syndrome 41
187 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
188 DFF021 Diffuse Mesangial Sclerosis 39
189 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 38
190 HLZ001 Holzgreve Syndrome 38
191 FML031 Female Stress Incontinence 37
192 AMN006 Aminoaciduria 37
193 c 3MT007 3-Methylglutaconic Aciduria 37
194 URT020 Ureterocele 36
195 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
196 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 35
197 TFR002 Tafro Syndrome 33
198 RNL001 Renal Artery Obstruction 31
199 5XP001 5-Oxoprolinase Deficiency 30
200 HMR046 Hemorrhagic Fever-Renal Syndrome 28
201 c FHT001 Fh Tumor Predisposition Syndrome 27
202 c IMR003 Imerslund-Grasbeck Syndrome 2 25
203 MXD010 Mixed Epithelial Stromal Tumour 24
204 P PRM227 Primary Orthostatic Hypotension 24
205 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 22
206 P RTN220 Retinal Ciliopathy 22
207 c INT262 Intermediate Maple Syrup Urine Disease 22
208 c ORT012 Orthostatic Hypotension 2 20
209 MLY011 Maleylacetoacetate Isomerase Deficiency 19
210 NPH097 Nephrosialidosis 18
211 FRS010 Forsythe-Wakeling Syndrome 16
212 PX2001 Pax2-Related Disorder 15
213 MTH075 Methionine Malabsorption Syndrome 14
214 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 13
215 MGL007 Megalocytic Interstitial Nephritis 13
216 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 13
217 NPH050 Nephropathy, Progressive, with Deafness 12
218 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 12
219 RNL116 Renal and Mullerian Duct Hypoplasia 12
220 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 11
221 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 11
222 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
223 VNT033 Ventriculomegaly with Defects of the Radius and Kidney 11
224 PLY155 Polycystic Kidney, Cataract, and Congenital Blindness 10
225 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 10
226 KLL010 Kallikrein, Decreased Urinary Activity of 9
227 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 9
228 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
229 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
230 VCT003 Vacterl Hydrocephaly 8
231 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 8
232 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
233 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
234 SLG001 Selig Benacerraf Greene Syndrome 6
235 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 6
236 JJN005 Jejunal Atresia with Renal Adysplasia 6
237 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
238 NPH099 Nephropathy, Chronic Tubulointerstitial 5
239 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 5
240 FRS005 Fraser Jequier Chen Syndrome 5
241 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
242 PLM171 Pulmonic Stenosis and Congenital Nephrosis 4
243 BLD024 Bladder Squamous Papilloma 4
244 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
245 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
246 GLY095 Glycoprotein, Renal 4
247 GNT064 Genetic Renal Tumor 4
248 RNL124 Renal Disease with Cataract 3
249 ALL011 Allain-Babin-Demarquez Syndrome 3
250 BLL008 Billet Bear Syndrome 2
251 GNT063 Genetic Renal Tubular Disease 2
252 NPH109 Nephropathy-Associated Ciliopathy 2
253 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 2
254 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 2
255 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 2
256 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 2
257 c BTT014 Beta-Thalassemia 72
258 LWC002 Lowe Oculocerebrorenal Syndrome 68
259 ALP103 Alpha-1-Antitrypsin Deficiency 68
260 P MTR004 Maturity-Onset Diabetes of the Young 68
261 P BRD002 Bardet-Biedl Syndrome 66
262 ALS001 Alstrom Syndrome 65
263 c GLY060 Glycogen Storage Disease Ia 63
264 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63
265 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
266 P PRP029 Porphyria 60
267 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59
268 HYD002 Hydronephrosis 58
269 MGL001 Megaloblastic Anemia 58
270 P PYL005 Pyelonephritis 57
271 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
272 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
273 c JBR041 Joubert Syndrome 3 53
274 URT001 Urethritis 53
275 c FNC025 Fanconi Anemia, Complementation Group J 52
276 HYP741 Hyperparathyroidism 2 with Jaw Tumors 51
277 P ORF001 Orofaciodigital Syndrome 50
278 c CTR103 Cataract 4, Multiple Types 48
279 c BRD047 Bardet-Biedl Syndrome 16 46
280 C3G002 C3 Glomerulopathy 46
281 c ACT042 Acute Pyelonephritis 45
282 BTN004 Biotin Deficiency 45
283 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
284 P PRL003 Proliferative Glomerulonephritis 43
285 MTH077 Methylmalonic Aciduria, Cbla Type 43
286 c BRD033 Bardet-Biedl Syndrome 13 43
287 CRS001 Crescentic Glomerulonephritis 42
288 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 42
289 URT037 Urethral Stricture 42
290 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
291 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
292 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
293 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
294 CHL070 Cholesterol Embolism 39
295 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
296 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38
297 c BRD017 Bardet-Biedl Syndrome 5 38
298 PRN007 Perinephritis 38
299 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 38
300 c ACT079 Acute Proliferative Glomerulonephritis 38
301 PYL004 Pyelitis 37
302 TRG001 Trigonitis 36
303 ACT040 Acute Poststreptococcal Glomerulonephritis 36
304 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
305 c CHR087 Chronic Cystitis 35
306 c CHR098 Chronic Pyelonephritis 34
307 c JBR030 Joubert Syndrome 22 34
308 c FNC034 Fanconi Renotubular Syndrome 2 33
309 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
310 c JBR037 Joubert Syndrome 26 33
311 ADN090 Adenosylcobalamin Deficiency 32
312 c FRS016 Fraser Syndrome 2 31
313 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 31
314 RDT001 Radiation Cystitis 31
315 LMB014 Limb-Body Wall Complex 31
316 XNT001 Xanthogranulomatous Pyelonephritis 30
317 c CTR097 Cataract 34, Multiple Types 29
318 TBL025 Tubulointerstitial Nephritis with Uveitis 28
319 P HRD009 Hereditary Wilms' Tumor 28
320 c BRD050 Bardet-Biedl Syndrome 21 28
321 SRN002 Sirenomelia 28
322 c CTR158 Cataract 37 28
323 CYS003 Cystitis Cystica 28
324 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 27
325 c MNK005 Menke-Hennekam Syndrome 1 27
326 DFF015 Diffuse Glomerulonephritis 27
327 c HML035 Hemolytic Uremic Syndrome, Atypical 2 26
328 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 26
329 SDH011 Sedoheptulokinase Deficiency 26
330 c PSD068 Pseudohypoaldosteronism, Type Iic 26
331 URT016 Urethral Diverticulum 25
332 ORT001 Orthostatic Proteinuria 25
333 c TRN053 Transient Pseudohypoaldosteronism 24
334 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 24
335 ACT041 Acute Diffuse Nephritis 23
336 c JBR043 Joubert Syndrome 32 23
337 c AML059 Amelogenesis Imperfecta, Type Ij 21
338 TYR015 Tyrosinosis 20
339 EXD002 Exudative Glomerulonephritis 20
340 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 19
341 DLC002 D-Lactic Aciduria with Gout 19
342 ESN013 Eosinophilic Cystitis 18
343 c PRT135 Protoporphyria, Erythropoietic, 2 17
344 HVY003 Heavy Chain Deposition Disease 17
345 PTN009 Patent Urachus 16
346 PYL001 Pyeloureteritis Cystica 16
347 CMP052 Complication in Hemodialysis 16
348 ACT215 Actg2-Related Disorders 14
349 CLL035 Collagen Type Iii Glomerulopathy 13
350 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 13
351 c VSC040 Vesicoureteral Reflux 4 11
352 MYP025 Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme 11
353 MGC005 Megacystis-Megaureter Syndrome 11
354 ECT027 Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate 11
355 c HYP450 Hypertension, Essential 4 10
356 c HYP451 Hypertension, Essential 5 10
357 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 8
358 INF182 Infection-Related Hemolytic Uremic Syndrome 6
359 CNG106 Congenital Megalo-Ureter 6
360 CNG583 Congenital Urachal Anomaly 5
361 BNG097 Benign Metanephric Tumor 4
362 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
363 c PRM147 Primary Megaureter, Adult-Onset Form 4
364 CNG331 Congenital Bilateral Megacalycosis 4
365 UNL009 Unilateral Congenital Megacalycosis 4
366 STR004 Stricture or Kinking of Ureter 4
367 FCL004 Focal Embolic Glomerulonephritis 3
368 GNT183 Genetic Systemic Disease with Glomerulopathy As a Major Feature 3
369 GNT181 Genetic Primary Hypomagnesemia with Hypocalciuria 3
370 CNG585 Congenital Primary Megaureter, Refluxing and Obstructed Form 3
371 CLL042 Collagen-Related Glomerular Basement Membrane Disease 2
372 RNL126 Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 25
373 HMT008 Hematuria, Benign Familial 54
374 BLD039 Bladder Adenocarcinoma 32
375 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
376 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
377 BLD031 Bladder Signet Ring Cell Adenocarcinoma 9
378 BLD027 Bladder Neck Cancer 7
379 BLD043 Bladder Clear Cell Adenocarcinoma 25
380 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
381 INV004 Invasive Bladder Transitional Cell Carcinoma 31
382 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 25
383 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 10
384 RRR008 Rare Urinary Tract Tumor 6
385 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59
386 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 24
387 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23
388 NRF027 Neurofacioskeletal Syndrome with or Without Renal Agenesis 13
389 URT023 Ureteric Orifice Cancer 26
390 CHR176 Chromophil Renal Cell Carcinoma 23
391 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 18
392 BLD010 Bladder Colloid Adenocarcinoma 7
393 BLD014 Bladder Colonic Type Adenocarcinoma 5
394 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
395 BLD012 Bladder Urothelial Papillary Carcinoma 5
396 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 5
397 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
398 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 5
399 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 5
400 c MCR115 Microvascular Complications of Diabetes 5 65
401 TRN018 Transitional Cell Carcinoma 56
402 SCL046 Scalp-Ear-Nipple Syndrome 49
403 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 45
404 SQL002 Squalene Synthase Deficiency 28
405 RTN235 Retinal Vasculopathy with Cerebral Leukodystrophy with Systemic Manifestations 16
406 PLY023 Polycystic Liver Disease 60
407 P FML068 Familial Hypocalciuric Hypercalcemia 55
408 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 50
409 INP001 Inappropriate Adh Syndrome 48
410 GLC022 Glucose/galactose Malabsorption 44
411 CMB011 Combined Malonic and Methylmalonic Aciduria 42
412 BRN134 Brain Malformations with or Without Urinary Tract Defects 36
413 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 36
414 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 28
415 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 20
416 CLP007 Clpb Deficiency 13
417 ELL004 Ellis Yale Winter Syndrome 7
418 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
419 SPT004 Septic Arthritis 58
420 HNT002 Hantavirus Pulmonary Syndrome 55
421 P EMB005 Embryonal Rhabdomyosarcoma 53
422 ALP077 Alpha-Methylacetoacetic Aciduria 52
423 CNN011 Cenani-Lenz Syndactyly Syndrome 51
424 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 48
425 GLY014 Glycerol Kinase Deficiency 48
426 P HYP733 Hypercalciuria, Absorptive, 2 45
427 CRL004 Caroli Disease 45
428 c RHB023 Rhabdomyosarcoma, Embryonal, 1 45
429 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
430 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 45
431 P IMR002 Imerslund-Grasbeck Syndrome 1 42
432 BLB005 Beaulieu-Boycott-Innes Syndrome 41
433 P MLG074 Malignant Mesenchymoma 40
434 FRC005 Fructosuria, Essential 37
435 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
436 EPD025 Epidermolysis Bullosa with Pyloric Atresia 35
437 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 35
438 MCR257 Microcephaly, Amish Type 35
439 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
440 c CNG002 Congenital Bile Acid Synthesis Defect 31
441 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 29
442 URC006 Urocanase Deficiency 28
443 BLC004 Blackwater Fever 27
444 HYP683 Hypogonadism-Cataract Syndrome 25
445 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
446 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 23
447 NRS001 Neuroschistosomiasis 23
448 CMB084 Combined Oxidative Phosphorylation Deficiency 34 22
449 P DSR081 Disorder of Bile Acid Synthesis 19
450 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
451 VLN001 Valinemia 19
452 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 17
453 c HYP809 Hypercalciuria, Absorptive, 1 15
454 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
455 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
456 URT041 Urethral Obstruction Sequence 12
457 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 11
458 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 10
459 c ADL020 Adult Malignant Mesenchymoma 10
460 BLD050 Bladder Urachal Carcinoma 8
461 SNT001 Santos Mateus Leal Syndrome 8
462 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
463 KRN006 Karandikar Maria Kamble Syndrome 6
464 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
465 BLD021 Bladder Urachal Adenocarcinoma 6
466 BLD018 Bladder Hepatoid Adenocarcinoma 5
467 BLD004 Bladder Urachal Urothelial Carcinoma 5
468 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
469 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
470 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 4
471 RRG073 Rare Genetic Renal Disease 4
472 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
473 BLD017 Bladder Mixed Adenocarcinoma 4
474 RRD035 Rare Disorder Potentially Indicated for Kidney Transplant 3
475 OCL029 Oculo Skeletal Renal Syndrome 2
476 c HYP595 Hypertension, Essential 85
477 c TBR025 Tuberous Sclerosis 1 84
478 VNH007 Von Hippel-Lindau Syndrome 73
479 WLS001 Wilson Disease 70
480 P TBR001 Tuberous Sclerosis 69
481 P GLC113 Galactosemia I 66
482 c HYP794 Hyperoxaluria, Primary, Type I 63
483 DGR001 Digeorge Syndrome 62
484 LSC001 Lesch-Nyhan Syndrome 62
485 c BRN108 Branchiootic Syndrome 1 62
486 c PRX045 Peroxisome Biogenesis Disorder 1b 62
487 P BCK002 Beckwith-Wiedemann Syndrome 62
488 c ACT068 Acute Cystitis 61
489 c ACT071 Acute Kidney Failure 60
490 P PLY017 Polyarteritis Nodosa 60
491 P FNC004 Fanconi Syndrome 60
492 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 60
493 P INT143 Interstitial Cystitis 60
494 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 60
495 P CTR002 Cataract 60
496 P CYS018 Cystitis 59
497 ADL030 Adult-Onset Still's Disease 59
498 P CRN323 Cranioectodermal Dysplasia 58
499 P BRT004 Bartter Disease 58
500 P PLV020 Pelvic Organ Prolapse 58
501 PRL032 Perlman Syndrome 57
502 c FRS014 Fraser Syndrome 1 56
503 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56
504 c PRX059 Peroxisome Biogenesis Disorder 1a 56
505 PRP082 Porphyria, Congenital Erythropoietic 56
506 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 56
507 PRN038 Prune Belly Syndrome 56
508 PLV003 Pelvic Inflammatory Disease 55
509 NPH009 Nephrolithiasis 54
510 P DBT005 Diabetes Insipidus 54
511 P CYS039 Cystic Kidney Disease 53
512 c JBR018 Joubert Syndrome 4 52
513 END086 End Stage Renal Disease 52
514 CYS036 Cystinosis, Nephropathic 51
515 c BRD012 Bardet-Biedl Syndrome 11 51
516 c GLC112 Galactosemia Iii 51
517 c GLC111 Galactosemia Ii 50
518 c HYP603 Hyperoxaluria, Primary, Type Iii 50
519 c MTC060 Mitochondrial Dna Depletion Syndrome 9 50
520 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49
521 P RNV001 Renovascular Hypertension 49
522 BLD044 Bladder Disease 48
523 URM002 Uremia 47
524 c FNC023 Fanconi Anemia, Complementation Group N 47
525 c MTC058 Mitochondrial Dna Depletion Syndrome 6 47
526 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
527 ACT003 Acute Kidney Tubular Necrosis 46
528 RNL078 Renal Dysplasia 46
529 INT067 Interstitial Nephritis 46
530 c MLG069 Malignant Hypertension 46
531 KDN015 Kidney Angiomyolipoma 46
532 RNL077 Renal Fibrosis 46
533 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
534 c NPH031 Nephronophthisis 3 46
535 c BRT042 Bartter Syndrome, Type 3 46
536 URL001 Urolithiasis 46
537 c NNN011 Noonan Syndrome 4 45
538 LPD004 Lipoid Nephrosis 45
539 c JBR015 Joubert Syndrome 6 45
540 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 45
541 ANR004 Anuria 44
542 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 44
543 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 44
544 P PSD003 Pseudohypoaldosteronism 44
545 c JBR013 Joubert Syndrome 8 44
546 c CTR096 Cataract 6, Multiple Types 43
547 c HRD142 Hereditary Xanthinuria 43
548 URT014 Ureterolithiasis 43
549 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
550 c BRD019 Bardet-Biedl Syndrome 7 43
551 RNL094 Renal Dysplasia, Cystic 43
552 MTH078 Methylmalonic Aciduria, Cblb Type 42
553 c MCK034 Meckel Syndrome, Type 8 42
554 c NNN013 Noonan Syndrome 6 42
555 c NPH069 Nephronophthisis 15 42
556 c JBR016 Joubert Syndrome 10 42
557 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 42
558 c CTR132 Cataract 3, Multiple Types 42
559 c PST041 Posterior Urethral Valves 41
560 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41
561 c JBR028 Joubert Syndrome 13 41
562 OBS082 Obstructive Nephropathy 41
563 P HYP347 Hypotonia-Cystinuria Syndrome 41
564 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41
565 c AML057 Amelogenesis Imperfecta, Type Iiia 41
566 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 41
567 THR123 Thrombotic Microangiopathy 40
568 CMP004 Complement Factor I Deficiency 40
569 IDP073 Idiopathic Hypercalciuria 40
570 c CTR118 Cataract 14, Multiple Types 40
571 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40
572 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
573 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 39
574 BLD045 Bladder Diverticulum 39
575 c NPH075 Nephronophthisis 18 39
576 c CTR115 Cataract 16, Multiple Types 39
577 c CTR098 Cataract 1, Multiple Types 39
578 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 39
579 c SYS043 Systemic Lupus Erythematosus 1 38
580 c CTR130 Cataract 9, Multiple Types 38
581 c CNG504 Congenital Disorder of Glycosylation, Type Iip 37
582 c BRD045 Bardet-Biedl Syndrome 19 37
583 P XNT004 Xanthinuria 37
584 c NNN012 Noonan Syndrome 5 37
585 c AML020 Amelogenesis Imperfecta, Type Iv 37
586 c CTR113 Cataract 11, Multiple Types 37
587 c PRX063 Peroxisome Biogenesis Disorder 2a 37
588 c CTR181 Cataract 18 37
589 c CTR141 Cataract 21, Multiple Types 36
590 P ANT061 Antenatal Bartter Syndrome 36
591 CHR502 Chromosome 17q12 Duplication Syndrome 36
592 c CHR020 Chronic Interstitial Cystitis 36
593 IMM001 Immune-Complex Glomerulonephritis 36
594 c PRX055 Peroxisome Biogenesis Disorder 11a 36
595 c CTR129 Cataract 31, Multiple Types 36
596 c FCL028 Focal Segmental Glomerulosclerosis 5 36
597 c CTR095 Cataract 8, Multiple Types 35
598 KRN001 Korean Hemorrhagic Fever 35
599 c CTR111 Cataract 36 35
600 GLM044 Glomerular Disease 35
601 c BNG021 Benign Essential Hypertension 35
602 c CTR145 Cataract 44 35
603 c CTR170 Cataract 30, Multiple Types 35
604 c FNC059 Fanconi-Like Syndrome 35
605 P FML187 Familial Hypertension 34
606 c CTR122 Cataract 5, Multiple Types 34
607 c CTR183 Cataract 38 34
608 KDN013 Kidney Hypertrophy 34
609 c JBR022 Joubert Syndrome 20 33
610 P ACR072 Acrorenal Syndrome 33
611 BLD009 Bladder Neck Obstruction 33
612 c PRX060 Peroxisome Biogenesis Disorder 5a 33
613 c MLG003 Malignant Renovascular Hypertension 33
614 c PRX051 Peroxisome Biogenesis Disorder 6a 33
615 c CTR102 Cataract 2, Multiple Types 33
616 KDN001 Kidney Cortex Necrosis 33
617 c PRX054 Peroxisome Biogenesis Disorder 12a 33
618 c BRN086 Branchiootorenal Syndrome 2 32
619 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
620 c CTR174 Cataract 40 32
621 c CTR131 Cataract 17, Multiple Types 32
622 c PRX065 Peroxisome Biogenesis Disorder 3a 31
623 c PRX050 Peroxisome Biogenesis Disorder 9b 31
624 c FCL085 Focal Segmental Glomerulosclerosis 7 31
625 c NPH047 Nephrotic Syndrome, Type 4 31
626 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 31
627 c CTR185 Cataract 30 31
628 c PRX048 Peroxisome Biogenesis Disorder 10a 31
629 c PRX057 Peroxisome Biogenesis Disorder 4a 31
630 c GLY017 Glycogen Storage Disease Ic 30
631 c RNL128 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 30
632 OSC001 Oeis Complex 30
633 c CTR187 Cataract 48 30
634 c BRD051 Bardet-Biedl Syndrome 20 30
635 c SPS036 Spastic Paraplegia 3 30
636 c CTR175 Cataract 24 30
637 RNL013 Renal Adenoma 30
638 c PRP091 Porphyria Cutanea Tarda, Type I 30
639 c MLG080 Malignant Secondary Hypertension 30
640 c CTR119 Cataract 32, Multiple Types 30
641 c PRX043 Peroxisome Biogenesis Disorder 6b 29
642 KDN006 Kidney Papillary Necrosis 29
643 DCR007 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 29
644 c PRX046 Peroxisome Biogenesis Disorder 7a 29
645 GLN006 Glandular Cystitis 29
646 c AML018 Amelogenesis Imperfecta, Type Ic 28
647 c PRX091 Peroxisome Biogenesis Disorder 8a 28
648 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 28
649 BLD030 Bladder Tuberculosis 28
650 c BRN128 Branchiootic Syndrome 3 27
651 BLD041 Bladder Calculus 27
652 c FCL091 Focal Segmental Glomerulosclerosis 10 27
653 c PRX058 Peroxisome Biogenesis Disorder 4b 27
654 c PRX052 Peroxisome Biogenesis Disorder 13a 27
655 c PRX062 Peroxisome Biogenesis Disorder 8b 27
656 c PRX047 Peroxisome Biogenesis Disorder 5b 27
657 c PRX053 Peroxisome Biogenesis Disorder 14b 27
658 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 27
659 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 27
660 c RNL016 Renal Infectious Disease 27
661 RNL021 Renal Tubular Transport Disease 27
662 KDN009 Kidney Fibrosarcoma 27
663 c CTR180 Cataract 22, Multiple Types 27
664 DPL007 Duplication of Urethra 26
665 c CTR166 Cataract 33, Multiple Types 26
666 STN013 Stenotrophomonas Maltophilia Infection 26
667 c CTR110 Cataract 26, Multiple Types 26
668 P PRX064 Peroxisome Biogenesis Disorder 2b 26
669 c CTR125 Cataract 7 26
670 ATR053 Atresia of Urethra 26
671 c PSD094 Pseudohypoaldosteronism, Type Iib 26
672 URT011 Urethral Calculus 26
673 c CTR124 Cataract 10, Multiple Types 25
674 c JBR044 Joubert Syndrome 31 25
675 c PRX066 Peroxisome Biogenesis Disorder 3b 25
676 c VSC020 Vesicoureteral Reflux 2 25
677 c WLM011 Wilms Tumor 6 25
678 c CTR116 Cataract 15, Multiple Types 25
679 c CTR165 Cataract 19, Multiple Types 25
680 c BRT024 Bartter Syndrome Type 4 25
681 c CTR105 Cataract 12, Multiple Types 25
682 c PRX068 Peroxisome Biogenesis Disorder 7b 25
683 FBR085 Fibrillary Glomerulonephritis 25
684 c PRX056 Peroxisome Biogenesis Disorder 11b 24
685 c CTR182 Cataract 23, Multiple Types 24
686 c FNC061 Fanconi Anemia, Complementation Group W 24
687 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 24
688 STN006 Steinfeld Syndrome 24
689 c CTR157 Cataract 28 24
690 c HML037 Hemolytic Uremic Syndrome, Atypical 5 24
691 c CTR121 Cataract 25 24
692 OCL073 Oculoskeletodental Syndrome 24
693 c HRD156 Hereditary Central Diabetes Insipidus 24
694 SCN001 Secondary Hyperparathyroidism of Renal Origin 24
695 c CTR162 Cataract 47 24
696 c VSC025 Vesicoureteral Reflux 3 24
697 c NPH105 Nephrotic Syndrome, Type 17 24
698 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 24
699 c CTR136 Cataract 41 23
700 c GLC115 Galactosemia Iv 23
701 AXL004 Axial Mesodermal Dysplasia Spectrum 23
702 c GLL041 Galloway-Mowat Syndrome 4 23
703 c VSC046 Vesicoureteral Reflux 8 23
704 c HYP445 Hypomagnesemia 6, Renal 23
705 c MLG039 Malignant Essential Hypertension 23
706 ARD001 Aredyld 23
707 NPH008 Nephrogenic Adenoma of the Urethra 22
708 c CTR169 Cataract 29 22
709 c NPH106 Nephrotic Syndrome, Type 18 22
710 c CTR184 Cataract 39, Multiple Types 22
711 NPH006 Nephrogenic Adenofibroma 21
712 MSC089 Mosaic Monosomy X 21
713 c AML048 Amelogenesis Imperfecta, Type Ih 21
714 CHL098 Childhood Myocerebrohepatopathy Spectrum 21
715 c CTR106 Cataract 20, Multiple Types 21
716 c SBC010 Subacute Glomerulonephritis 21
717 c SNR011 Senior-Loken Syndrome 3 21
718 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
719 c NPH086 Nephronophthisis 20 21
720 RNL005 Renal Wilms' Tumor 20
721 c HYP712 Hypercalcemia, Infantile, 2 20
722 P MNK007 Menke-Hennekam Syndrome 20
723 c CTR159 Cataract 35 20
724 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 20
725 c CTR160 Cataract 45 20
726 c CTR139 Cataract 42 20
727 c PRX089 Peroxisome Biogenesis Disorder 10b 20
728 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
729 c CTR144 Cataract 43 19
730 URM001 Uremic Neuropathy 19
731 c RNL099 Renal Hypodysplasia/aplasia 2 19
732 c CTR128 Cataract 33 19
733 c BRN073 Branchiootic Syndrome 2 18
734 SNR014 Senior-Boichis Syndrome 18
735 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
736 LWR004 Lower Urinary Tract Calculus 18
737 c ACQ034 Acquired Central Diabetes Insipidus 18
738 EPT005 Epithelial Predominant Wilms' Tumor 18
739 c CTR178 Cataract 27 18
740 BLT024 Bilateral Renal Aplasia 18
741 KDN014 Kidney Leiomyosarcoma 17
742 KDN025 Kidney Cortex Disease 17
743 c WLM015 Wilms Tumor 3 17
744 c RNL117 Renal Tubular Acidosis Iii 17
745 THY105 Thyrocerebroretinal Syndrome 17
746 DYS180 Dyschondrosteosis and Nephritis 17
747 P HRD221 Hereditary Nephrogenic Diabetes Insipidus 17
748 16P008 16p11.2 Duplication 16
749 ISL133 Isolated Epispadias 16
750 LSS041 Lessel-Kubisch Syndrome 16
751 c SYS055 Systemic Lupus Erythematosus 12 16
752 ANP019 Anophthalmos with Limb Anomalies 15
753 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 15
754 c AHM002 Ah Amyloidosis 14
755 IDP095 Idiopathic Steroid-Resistant Nephrotic Syndrome 14
756 c BNG028 Benign Renovascular Hypertension 13
757 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
758 URC013 Urachal Diverticulum 13
759 MLT112 Multiloculated Renal Cyst 13
760 CHR197 Chromosome 15, Trisomy Mosaicism 13
761 P ANT062 Anterior Urethral Valve 12
762 c MYR005 Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 12
763 c MXD037 Mixed Cryoglobulinemia Type Iii 12
764 c BNG034 Benign Secondary Hypertension 12
765 c HYP447 Hypertension, Essential 1 11
766 c HYP449 Hypertension, Essential 3 11
767 c HYP452 Hypertension, Essential 6 11
768 URT019 Urethral Gland Abscess 11
769 c VSC041 Vesicoureteral Reflux 7 11
770 c PRM152 Primary Renal Tubular Acidosis 11
771 c LTN020 Late-Onset Nephronophthisis 11
772 c HYP448 Hypertension, Essential 2 11
773 CHL044 Childhood Kidney Angiomyolipoma 11
774 c CTR025 Cataract, Total Congenital 10
775 c PLV014 Pelvic Organ Prolapse 2 10
776 c FNC067 Fanconi Renotubular Syndrome 4 10
777 c HYP454 Hypertension, Essential 8 10
778 c HYP453 Hypertension, Essential 7 9
779 BLS005 Blastema Predominant Kidney Wilms' Tumor 9
780 c AML063 Amelogenesis Imperfecta Type 2a1 9
781 STR009 Stromal Predominant Kidney Wilms' Tumor 9
782 RNL010 Renal Pelvis Inverted Papilloma 8
783 URG002 Urogenital Adysplasia 8
784 c RRP004 Rare Primary Hyperaldosteronism 7
785 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 7
786 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
787 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
788 KDN003 Kidney Lipoma 7
789 IDP097 Idiopathic Non-Lupus Full-House Nephropathy 7
790 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 7
791 IDP096 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance 6
792 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
793 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
794 MTC002 Metachronous Kidney Wilms' Tumor 5
795 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
796 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
797 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 5
798 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
799 NNC001 Non-Congenital Cyst of Kidney 5
800 RNL020 Renal Pelvis Urothelial Papilloma 4
801 c TYP006 Type 2 Papillary Adenoma of the Kidney 4
802 P DST108 Distal Renal Tubular Acidosis with Hemolytic Anemia 4
803 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
804 CNG270 Congenital Primary Megaureter, Obstructed Form 4
805 c CTR008 Cataract Congenital Autosomal Dominant 4
806 SYS078 Systemic Disease with Glomerulopathy As a Major Feature 4
807 BLK002 Balkan Hemorrhagic Fever 3
808 GNT180 Genetic Primary Hypomagnesemia with Normocalciuria 3
809 IDP094 Idiopathic Multidrug-Resistant Nephrotic Syndrome 3
810 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
811 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
812 NNG004 Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature 2
813 DSR087 Disorder with Multisystemic Involvement and Glomerulopathy 2
814 P MLN066 Melanoma, Cutaneous Malignant 1 66
815 c MLN043 Melanoma, Cutaneous Malignant 8 37
816 c MLN067 Melanoma, Cutaneous Malignant 2 29
817 c MLN075 Melanoma, Cutaneous Malignant 3 24
818 c MLN055 Melanoma, Cutaneous Malignant 10 22
819 c MLN076 Melanoma, Cutaneous Malignant 5 22
820 c MLN042 Melanoma, Cutaneous Malignant 6 20
821 c MLN077 Melanoma, Cutaneous Malignant 9 20
822 c MLN074 Melanoma, Cutaneous Malignant 4 17
823 c MLN040 Melanoma, Cutaneous Malignant 7 17
824 RNL112 Renal, Genital, and Middle Ear Anomalies 13
825 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68
826 c 3MT015 3-Methylglutaconic Aciduria, Type I 51
827 GLT007 Glutathione Synthetase Deficiency 48
828 c 3MT014 3-Methylglutaconic Aciduria, Type V 45
829 c 3MT024 3-Methylglutaconic Aciduria, Type Vii 43
830 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
831 CMP075 Campomelia, Cumming Type 25
832 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 24
833 P CTS001 Cutis Laxa 65
834 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
835 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
836 P AMY084 Amyloidosis, Finnish Type 51
837 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
838 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
839 P NRM002 Normal Pressure Hydrocephalus 49
840 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
841 HND004 Hand-Foot-Genital Syndrome 47
842 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
843 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
844 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
845 c CTS041 Cutis Laxa, Autosomal Dominant 3 45
846 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
847 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 44
848 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
849 c CTS031 Cutis Laxa, Autosomal Dominant 2 40
850 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
851 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
852 GRN034 Grange Syndrome 36
853 c FML249 Familial Amyloidosis, Finnish Type 35
854 c ATP003 Atp6v0a2-Related Cutis Laxa 32
855 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 24
856 c ACQ027 Acquired Cutis Laxa 24
857 c LTB003 Ltbp4-Related Cutis Laxa 23
858 c FBL003 Fbln5-Related Cutis Laxa 23
859 c ATS451 Autosomal Recessive Cutis Laxa Type 2 23
860 c EFM001 Efemp2-Related Cutis Laxa 21
861 VSC014 Vascular Hyalinosis 20
862 ALS004 Alsing Syndrome 4
863 P RTN008 Retinitis Pigmentosa 80
864 P ALG028 Alagille Syndrome 1 73
865 P KDN018 Kidney Disease 72
866 P ALP004 Alport Syndrome 69
867 P TMP003 Temporal Arteritis 69
868 RHB001 Rhabdoid Cancer 68
869 CYS013 Cystinuria 66
870 P PRM002 Primary Hyperoxaluria 65
871 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
872 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 64
873 P RNL100 Renal Hypodysplasia/aplasia 1 63
874 ADR016 Adrenal Cortical Carcinoma 62
875 CHR001 Churg-Strauss Syndrome 61
876 P KDN017 Kidney Cancer 61
877 P NPH012 Nephrotic Syndrome 60
878 P GLY013 Glycogen Storage Disease 60
879 c PRM005 Primary Hyperparathyroidism 59
880 SCR020 Sacral Defect with Anterior Meningocele 59
881 c GLY007 Glycogen Storage Disease Iv 58
882 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57
883 BLR008 Bilirubin Metabolic Disorder 57
884 MMB001 Membranoproliferative Glomerulonephritis 56
885 P NPH005 Nephronophthisis 56
886 VRG001 Variegate Porphyria 56
887 RLP001 Relapsing Polychondritis 55
888 ISV001 Isovaleric Acidemia 54
889 PRS055 Pierson Syndrome 54
890 SCH016 Schimke Immunoosseous Dysplasia 53
891 TRC003 Trichomoniasis 53
892 c WLM018 Wilms Tumor 5 53
893 ADR049 Adrenal Hypoplasia, Congenital 53
894 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 52
895 OST011 Osteomalacia 52
896 c XNT010 Xanthinuria, Type I 52
897 P OLV001 Olivopontocerebellar Atrophy 51
898 MYL020 Myelomeningocele 51
899 URC002 Urea Cycle Disorder 51
900 c OST126 Osteopetrosis, Autosomal Recessive 1 51
901 c OST120 Osteopetrosis, Autosomal Recessive 5 50
902 P MMB011 Membranous Nephropathy 50
903 P RNL007 Renal Tubular Acidosis 50
904 NPH010 Nephrosclerosis 50
905 ONC007 Oncocytoma 50
906 P FNC026 Fanconi Renotubular Syndrome 1 49
907 NPH003 Nephrocalcinosis 49
908 c FCL025 Focal Segmental Glomerulosclerosis 1 49
909 c NPH030 Nephronophthisis 2 49
910 P PRP056 Porphyria, Acute Hepatic 49
911 P URN019 Urinary Tract Infection 49
912 c BRD020 Bardet-Biedl Syndrome 8 49
913 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
914 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 49
915 c BRD011 Bardet-Biedl Syndrome 10 49
916 c CRN108 Cranioectodermal Dysplasia 1 48
917 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 48
918 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
919 HLX001 Helix Syndrome 48
920 c CNG194 Congenital Disorder of Glycosylation, Type Ig 47
921 c MTC061 Mitochondrial Dna Depletion Syndrome 1 47
922 c AMY009 Amyloidosis Aa 47
923 P ALP106 Alport Syndrome 1, X-Linked 47
924 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
925 IDP091 Idiopathic Nephrotic Syndrome 47
926 PDT035 Pediatric Systemic Lupus Erythematosus 47
927 P HYP534 Hypomagnesemia 3, Renal 46
928 c RTN047 Retinitis Pigmentosa 18 46
929 INT258 Interstitial Nephritis, Karyomegalic 45
930 P RNL015 Renal Hypertension 45
931 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45
932 c RTN162 Retinitis Pigmentosa 2 45
933 HYP550 Hypomagnesemia 1, Intestinal 45
934 c RTN172 Retinitis Pigmentosa 1 44
935 c RTN069 Retinitis Pigmentosa 7 44
936 HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 44
937 c RTN150 Retinitis Pigmentosa 10 44
938 MSN001 Mesangial Proliferative Glomerulonephritis 44
939 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
940 DWR001 Dwarfism 44
941 c RNL122 Renal Hypodysplasia/aplasia 3 44
942 c NPH071 Nephronophthisis 14 44
943 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
944 P RPD001 Rapidly Progressive Glomerulonephritis 44
945 c BRD013 Bardet-Biedl Syndrome 12 44
946 c RTN043 Retinitis Pigmentosa 13 43
947 c FNC058 Fanconi Anemia, Complementation Group R 43
948 c RTN058 Retinitis Pigmentosa 3 43
949 c RTN041 Retinitis Pigmentosa 11 42
950 c RTN054 Retinitis Pigmentosa 25 42
951 c RTN066 Retinitis Pigmentosa 4 42
952 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
953 MLT084 Multicystic Dysplastic Kidney 42
954 c ATS018 Autosomal Recessive Alport Syndrome 42
955 ADN020 Adenosarcoma 42
956 RNL025 Renal Hypoplasia 41
957 c RTN143 Retinitis Pigmentosa 47 41
958 c RTN042 Retinitis Pigmentosa 12 41
959 c RTN141 Retinitis Pigmentosa 39 41
960 c XLN231 X-Linked Alport Syndrome 41
961 c RTN114 Retinitis Pigmentosa 58 41
962 c NPH072 Nephrotic Syndrome, Type 7 40
963 c RTN130 Retinitis Pigmentosa 46 40
964 KDN007 Kidney Clear Cell Sarcoma 40
965 HYP187 Hypertryptophanemia 40
966 c HYP210 Hypomagnesemia 2, Renal 40
967 MTN001 Metanephric Adenoma 40
968 MDL009 Medullary Sponge Kidney 39
969 c RTN062 Retinitis Pigmentosa 33 39
970 NPH078 Nephrolithiasis, Uric Acid 39
971 URT004 Urethral Syndrome 39
972 c RTN056 Retinitis Pigmentosa 28 39
973 c RTN048 Retinitis Pigmentosa 19 39
974 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 39
975 c RTN050 Retinitis Pigmentosa 20 38
976 c RTN090 Retinitis Pigmentosa 55 38
977 c NPH077 Nephronophthisis 19 38
978 CHL010 Childhood Kidney Cell Carcinoma 38
979 c RTN055 Retinitis Pigmentosa 26 38
980 c RTN129 Retinitis Pigmentosa 49 38
981 c RBN008 Rubinstein-Taybi Syndrome 2 38
982 OST004 Osteitis Fibrosa 38
983 KDN002 Kidney Rhabdoid Cancer 38
984 c RTN085 Retinitis Pigmentosa 54 38
985 NPH113 Nephroma 37
986 c PLL017 Pallister-Hall-Like Syndrome 37
987 CDQ001 Cauda Equina Syndrome 37
988 c RTN046 Retinitis Pigmentosa 17 37
989 c RTN044 Retinitis Pigmentosa 14 37
990 c RTN060 Retinitis Pigmentosa 31 37
991 c RTN210 Retinitis Pigmentosa 50 37
992 c RTN052 Retinitis Pigmentosa 23 37
993 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 37
994 c ATS494 Autosomal Recessive Distal Renal Tubular Acidosis 37
995 c RTN159 Retinitis Pigmentosa 45 36
996 c RTN106 Retinitis Pigmentosa 51 36
997 c CNG200 Congenital Disorder of Glycosylation, Type Iq 36
998 c XNT011 Xanthinuria, Type Ii 36
999 c RTN146 Retinitis Pigmentosa 62 36
1000 c JBR042 Joubert Syndrome 23 36
1001 c RTN177 Retinitis Pigmentosa 73 36
1002 c RTN142 Retinitis Pigmentosa 38 36
1003 c RTN064 Retinitis Pigmentosa 35 36
1004 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36
1005 c BRD035 Bardet-Biedl Syndrome 15 36
1006 P TTR031 Tetraamelia Syndrome 35
1007 c RTN171 Retinitis Pigmentosa 59 35
1008 c ATM045 Autoimmune Glomerulonephritis 35
1009 c RTN180 Retinitis Pigmentosa 74 35
1010 c RTN157 Retinitis Pigmentosa 37 34
1011 CNG064 Congenital Chloride Diarrhea 34
1012 c RTN176 Retinitis Pigmentosa 71 34
1013 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34
1014 TRL002 Tarlov Cysts 34
1015 c RTN059 Retinitis Pigmentosa 30 34
1016 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 34
1017 c RTN152 Retinitis Pigmentosa 66 33
1018 c RTN134 Retinitis Pigmentosa 40 33
1019 c GLY057 Glycogen Storage Disease X 33
1020 c RTN131 Retinitis Pigmentosa 27 33
1021 c TBL032 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 33
1022 c RTN070 Retinitis Pigmentosa 9 33
1023 P HRD020 Hereditary Renal Cell Carcinoma 33
1024 c RTN136 Retinitis Pigmentosa 44 33
1025 c RTN057 Retinitis Pigmentosa 29 33
1026 ANT002 Anti-Basement Membrane Glomerulonephritis 33
1027 HYP193 Hypocomplementemic Urticarial Vasculitis 32
1028 c VCT004 Vacterl Association with Hydrocephalus 32
1029 P RNL115 Renal Tubular Acidosis, Proximal 32
1030 c RTN186 Retinitis Pigmentosa 75 32
1031 P VCT008 Vacterl with Hydrocephalus 32
1032 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 32
1033 c PSD093 Pseudohypoaldosteronism, Type Iid 32
1034 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1035 RNL012 Renal Tuberculosis 32
1036 c RTN140 Retinitis Pigmentosa 67 32
1037 c RTN144 Retinitis Pigmentosa 61 31
1038 PDN001 Pudendal Neuralgia 31
1039 P FML284 Familial Vesicoureteral Reflux 31
1040 c RTN160 Retinitis Pigmentosa 60 31
1041 c RTN061 Retinitis Pigmentosa 32 31
1042 c RTN169 Retinitis Pigmentosa 70 31
1043 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
1044 c RTN067 Retinitis Pigmentosa 41 31
1045 c RTN178 Retinitis Pigmentosa 72 31
1046 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30
1047 KDN016 Kidney Benign Neoplasm 30
1048 c RTN065 Retinitis Pigmentosa 36 30
1049 c RTN147 Retinitis Pigmentosa 48 30
1050 c RTN165 Retinitis Pigmentosa 68 30
1051 NPH001 Nephrogenic Adenoma 30
1052 c RTN148 Retinitis Pigmentosa 63 30
1053 c FCL053 Focal Segmental Glomerulosclerosis 8 29
1054 c RTN133 Retinitis Pigmentosa 43 29
1055 c SPS039 Spastic Paraplegia 5a 29
1056 c RTN149 Retinitis Pigmentosa 42 29
1057 RNL018 Renal Pelvis Carcinoma 29
1058 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 29
1059 c FCL055 Focal Segmental Glomerulosclerosis 9 28
1060 c RTN117 Retinitis Pigmentosa 57 28
1061 OMS001 Omsk Hemorrhagic Fever 28
1062 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28
1063 c HYP376 Hypouricemia, Renal, 2 28
1064 PCM002 Pauci-Immune Glomerulonephritis 28
1065 RNL019 Renal Pelvis Transitional Cell Carcinoma 27
1066 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 27
1067 c RTN190 Retinitis Pigmentosa 76 27
1068 c RTN068 Retinitis Pigmentosa 6 27
1069 c URN022 Urinary Tract Infections, Recurrent 27
1070 c NNN034 Noonan Syndrome 12 27
1071 c RTN213 Retinitis Pigmentosa 80 27
1072 c NNS043 Nonsyndromic Retinitis Pigmentosa 27
1073 c RTN053 Retinitis Pigmentosa 24 27
1074 XLN243 X-Linked Nephrolithiasis Type I 26
1075 c SNR004 Senior-Loken Syndrome 4 26
1076 KDN019 Kidney Sarcoma 26
1077 c RTN116 Retinitis Pigmentosa 56 26
1078 P RNL123 Renal Agenesis, Bilateral 26
1079 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 26
1080 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 26
1081 CHR082 Chromophil Adenoma of the Kidney 26
1082 c GLY093 Glycogen Storage Disease Ixa 26
1083 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
1084 PLY179 Polyomavirus-Associated Nephropathy 25
1085 c NPH073 Nephrotic Syndrome, Type 8 25
1086 c GLL042 Galloway-Mowat Syndrome 5 25
1087 c RTN166 Retinitis Pigmentosa 69 25
1088 c NPH095 Nephrotic Syndrome, Type 11 25
1089 c RTN063 Retinitis Pigmentosa 34 25
1090 URC005 Urachal Cyst 25
1091 c JBR040 Joubert Syndrome 30 25
1092 URC004 Urachal Cancer 24
1093 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 24
1094 P ADL099 Adult Cystic Nephroma 24
1095 CLR112 Clear Cell Papillary Renal Cell Carcinoma 24
1096 c SNR005 Senior-Loken Syndrome 5 24
1097 c TTR028 Tetraamelia Syndrome 1 24
1098 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 24
1099 c TTR029 Tetraamelia Syndrome 2 24
1100 c JBR039 Joubert Syndrome 28 24
1101 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
1102 KHN002 Khan-Khan-Katsanis Syndrome 23
1103 c RTN051 Retinitis Pigmentosa 22 23
1104 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 23
1105 c MNK006 Menke-Hennekam Syndrome 2 23
1106 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 23
1107 c RTN230 Retinitis Pigmentosa 88 23
1108 c RTN234 Retinitis Pigmentosa 90 23
1109 c NPH111 Nephrotic Syndrome, Type 21 23
1110 c TWN010 Townes-Brocks Syndrome 2 22
1111 c PLY141 Polycystic Kidney Disease 5 22
1112 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
1113 GNT182 Genetic Nephrotic Syndrome 22
1114 c RTN192 Retinitis Pigmentosa 77 22
1115 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1116 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 22
1117 RNL004 Renal Pelvis Adenocarcinoma 21
1118 c RTN227 Retinitis Pigmentosa 86 21
1119 c FNC049 Fanconi Renotubular Syndrome 3 21
1120 c URF002 Urofacial Syndrome 2 21
1121 c FCL082 Focal Segmental Glomerulosclerosis 4 21
1122 c NPH107 Nephrotic Syndrome, Type 19 21
1123 c RTN195 Retinitis Pigmentosa 79 21
1124 c SYS038 Systemic Lupus Erythematosus 2 21
1125 c HYD071 Hydrocephalus, Normal-Pressure, 1 21
1126 c RTN196 Retinitis Pigmentosa 78 20
1127 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 20
1128 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1129 c RTN233 Retinitis Pigmentosa 89 20
1130 c RTN217 Retinitis Pigmentosa 83 20
1131 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 20
1132 CLL007 Cellular Congenital Mesoblastic Nephroma 20
1133 c RTN214 Retinitis Pigmentosa 81 20
1134 c RTN218 Retinitis Pigmentosa 84 20
1135 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
1136 c ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 19
1137 c AML064 Amelogenesis Imperfecta, Type Iiic 19
1138 c BRN138 Branchiootorenal Spectrum Disorder 19
1139 KDN004 Kidney Hemangiopericytoma 19
1140 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1141 c PRM150 Primary Localized Amyloidosis 19
1142 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 18
1143 c RTN219 Retinitis Pigmentosa 85 18
1144 c SYS046 Systemic Lupus Erythematosus 3 18
1145 OPT079 Optic Atrophy 13 with Retinal and Foveal Abnormalities 18
1146 PHS019 Phosphohydroxylysinuria 17
1147 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 17
1148 P CNG348 Congenital Sialidosis Type 2 17
1149 c SYS053 Systemic Lupus Erythematosus 5 17
1150 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 17
1151 CNG330 Congenital Megacalycosis 16
1152 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1153 c CHR471 Chronic Hepatic Porphyria 15
1154 c NPH114 Nephrotic Syndrome, Type 22 15
1155 c RNL034 Renal Cell Carcinoma 4 15
1156 BLT020 Bilateral Multicystic Dysplastic Kidney 14
1157 LCT008 Lactate Dehydrogenase Deficiency 14
1158 APV001 Aapoaiv Amyloidosis 14
1159 c SYS047 Systemic Lupus Erythematosus 7 14
1160 c VSC043 Vesicoureteral Reflux 6 13
1161 LGH014 Light and Heavy Chain Deposition Disease 13
1162 RRR010 Rare Renal Tumor 13
1163 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1164 URC012 Urachal Sinus 13
1165 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12
1166 P CNG326 Congenital Primary Megaureter 12
1167 RRC029 Rare Cause of Hypertension 12
1168 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1169 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 12
1170 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1171 KDN005 Kidney Liposarcoma 10
1172 P BNG003 Benign Hypertensive Renal Disease 10
1173 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
1174 c TRN078 Transient Antenatal Bartter Syndrome 9
1175 PRM345 Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability 9
1176 c MLG055 Malignant Cystic Nephroma 9
1177 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 9
1178 DCT001 Dioctophymiasis 7
1179 MXD009 Mixed Cell Type Kidney Wilms' Tumor 7
1180 c ALP107 Alpha-Thalassemia and Related Diseases 7
1181 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1182 HRD003 Hereditary Conventional Renal Cell Carcinoma 7
1183 c RNR002 Ren-Related Kidney Disease 7
1184 c KDN012 Kidney Carcinoma in Situ 7
1185 CLS004 Classic Congenital Mesoblastic Nephroma 6
1186 c BTT015 Beta-Thalassemia and Related Diseases 5
1187 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1188 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
1189 P TYP005 Type 1 Papillary Adenoma of the Kidney 4
1190 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 4
1191 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1192 INH026 Inherited Renal Cancer-Predisposing Syndrome 4
1193 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1194 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
1195 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1196 CNG580 Congenital Disorder of Glycosylation with Nephropathy As a Major Feature 4
1197 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1198 ATH002 Atheroembolism of Kidney 3
1199 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
1200 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
1201 NPH112 Nephrotic Syndrome Without Extrarenal Manifestations 3
1202 P PLR004 Pleuropulmonary Blastoma 65
1203 c PLR018 Pleuropulmonary Blastoma Type 1 10
1204 c PLR020 Pleuropulmonary Blastoma Type 3 9
1205 c PLR019 Pleuropulmonary Blastoma Type 2 7
1206 LMY014 Leiomyoma, Uterine 56
1207 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 53
1208 GRC001 Gracile Syndrome 47
1209 c SYS001 Systemic Lupus Erythematosus 87
1210 c FNC027 Fanconi Anemia, Complementation Group a 81
1211 RNL114 Renal Cell Carcinoma, Nonpapillary 80
1212 RNL065 Renal Cell Carcinoma, Papillary, 1 79
1213 P JBR020 Joubert Syndrome 1 74
1214 c GLY008 Glycogen Storage Disease Ii 72
1215 c TBR026 Tuberous Sclerosis 2 71
1216 P AMY004 Amyloidosis 70
1217 SMT004 Smith-Lemli-Opitz Syndrome 70
1218 c CHR684 Chronic Kidney Disease 69
1219 P HML033 Hemolytic Uremic Syndrome, Atypical 1 69
1220 c ATS347 Autosomal Dominant Polycystic Kidney Disease 66
1221 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
1222 P ZLL001 Zellweger Syndrome 65
1223 c PRC016 Pre-Eclampsia 65
1224 P THR005 Thrombotic Thrombocytopenic Purpura 64
1225 P MCK013 Meckel Syndrome, Type 1 64
1226 GRN037 Granulomatosis with Polyangiitis 64
1227 c ALP101 Alpha-Thalassemia 62
1228 P PLL001 Pallister-Hall Syndrome 62
1229 c FNC043 Fanconi Anemia, Complementation Group E 62
1230 HJD001 Hajdu-Cheney Syndrome 62
1231 RNL024 Renal Glucosuria 60
1232 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
1233 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59
1234 P FML052 Familial Cold Autoinflammatory Syndrome 59
1235 PPL048 Papillorenal Syndrome 58
1236 MXD005 Mixed Connective Tissue Disease 57
1237 P NRF002 Neurofibromatosis 57
1238 P FCL005 Focal Segmental Glomerulosclerosis 57
1239 OCL069 Ocular Motor Apraxia 57
1240 c VSC019 Vesicoureteral Reflux 1 57
1241 MRD002 Marden-Walker Syndrome 56
1242 P THL005 Thalassemia 56
1243 P FNC044 Fanconi Anemia, Complementation Group C 56
1244 P AML002 Amelogenesis Imperfecta 56
1245 c FNC029 Fanconi Anemia, Complementation Group I 56
1246 P PSD015 Pseudohypoparathyroidism 55
1247 FRC011 Fructose Intolerance, Hereditary 55
1248 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55
1249 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
1250 GDP001 Goodpasture Syndrome 55
1251 c FNC042 Fanconi Anemia, Complementation Group D2 54
1252 c GLY011 Glycogen Storage Disease Vii 54
1253 P RNL017 Renal Oncocytoma 54
1254 c THR124 Thrombotic Thrombocytopenic Purpura, Hereditary 53
1255 c OST163 Osteopetrosis, Autosomal Recessive 3 53
1256 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
1257 c AML044 Amelogenesis Imperfecta, Type Ig 53
1258 BWN001 Bowen-Conradi Syndrome 53
1259 P ECL001 Eclampsia 52
1260 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
1261 c FNC024 Fanconi Anemia, Complementation Group D1 52
1262 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
1263 c SCN007 Secondary Hyperparathyroidism 51
1264 P BRN006 Branchiootorenal Syndrome 50
1265 HMG002 Hemoglobinuria 50
1266 c SVR005 Severe Pre-Eclampsia 50
1267 P TYR004 Tyrosinemia 50
1268 c ORF040 Orofaciodigital Syndrome Viii 50
1269 c ACT078 Acute Porphyria 49
1270 VTR016 Vater/vacterl Association 49
1271 c FNC046 Fanconi Anemia, Complementation Group P 49
1272 RNL011 Renal Osteodystrophy 49
1273 P SMP003 Simpson-Golabi-Behmel Syndrome 49
1274 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1275 c FNC048 Fanconi Anemia, Complementation Group O 49
1276 HPT014 Hepatorenal Syndrome 49
1277 c FML253 Familial Cold Autoinflammatory Syndrome 3 49
1278 c BRD018 Bardet-Biedl Syndrome 6 49
1279 c FNC032 Fanconi Anemia, Complementation Group B 48
1280 c PSD092 Pseudohypoaldosteronism, Type Iie 48
1281 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
1282 P TRN034 Transverse Myelitis 47
1283 LMT001 Limited Scleroderma 47
1284 c MCK033 Meckel Syndrome, Type 4 47
1285 c HYP243 Hyperparathyroidism 1 47
1286 CKT002 Cakut 47
1287 c MCK012 Meckel Syndrome, Type 6 46
1288 c FNC047 Fanconi Anemia, Complementation Group Q 46
1289 c BRT050 Bartter Syndrome, Type 2, Antenatal 46
1290 c FNC028 Fanconi Anemia, Complementation Group L 46
1291 c NPH032 Nephronophthisis 4 46
1292 DFF035 Diffuse Cutaneous Systemic Sclerosis 46
1293 c JBR011 Joubert Syndrome 7 46
1294 c JBR014 Joubert Syndrome 9 45
1295 c BRN131 Branchiootorenal Syndrome 1 45
1296 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
1297 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45
1298 c ZLL011 Zellweger Spectrum Disorder 45
1299 c JBR035 Joubert Syndrome 24 45
1300 c NPH053 Nephronophthisis 11 44
1301 c JBR024 Joubert Syndrome 14 44
1302 FSH001 Fish-Eye Disease 44
1303 c JBR025 Joubert Syndrome 17 44
1304 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
1305 c FNC045 Fanconi Anemia, Complementation Group F 44
1306 c NPH035 Nephronophthisis 9 44
1307 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 44
1308 LPP002 Lipoprotein Glomerulopathy 43
1309 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 43
1310 BLD170 Bladder Exstrophy and Epispadias Complex 43
1311 c NPH068 Nephronophthisis 16 43
1312 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
1313 c ALP105 Alport Syndrome 2, Autosomal Recessive 43
1314 c JVN041 Juvenile Nephronophthisis 43
1315 c FNC057 Fanconi Anemia, Complementation Group U 42
1316 c GLL038 Galloway-Mowat Syndrome 1 42
1317 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 42
1318 c JBR026 Joubert Syndrome 15 42
1319 ONC003 Oncogenic Osteomalacia 42
1320 c JBR031 Joubert Syndrome 21 42
1321 c NPH033 Nephronophthisis 7 42
1322 c FML117 Familial Cold Autoinflammatory Syndrome 2 41
1323 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 41
1324 c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 41
1325 SCH037 Schinzel-Giedion Midface Retraction Syndrome 41
1326 SRC002 Sarcomatoid Renal Cell Carcinoma 41
1327 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 41
1328 c FNC052 Fanconi Anemia, Complementation Group T 41
1329 c TYR011 Tyrosinemia, Type Iii 41
1330 TTH004 Tethered Spinal Cord Syndrome 41
1331 P MYG005 Myoglobinuria 40
1332 c CNG198 Congenital Disorder of Glycosylation, Type Il 40
1333 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
1334 c GLY016 Glycogen Storage Disease Ib 40
1335 LGH004 Light Chain Deposition Disease 40
1336 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 40
1337 PTT002 Potter's Syndrome 40
1338 c FCL026 Focal Segmental Glomerulosclerosis 2 40
1339 LWR018 Lower Urinary Tract Obstruction, Congenital 39
1340 OLG021 Oligomeganephronia 39
1341 GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 39
1342 c NPH065 Nephronophthisis 13 38
1343 c ATS015 Autosomal Dominant Alport Syndrome 38
1344 c ACT159 Acute Transverse Myelitis 38
1345 c FNC056 Fanconi Anemia, Complementation Group V 38
1346 c DNT021 Dent Disease 2 37
1347 c MTC078 Mitochondrial Dna Depletion Syndrome 11 37
1348 c FNC030 Fanconi Anemia, Complementation Group G 37
1349 c FCL043 Focal Segmental Glomerulosclerosis 6 36
1350 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 36
1351 c AML061 Amelogenesis Imperfecta, Type Ie 36
1352 c HYP302 Hypomagnesemia 4, Renal 36
1353 CFH006 Cfhr5 Deficiency 36
1354 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 36
1355 NPH037 Nephronophthisis-Like Nephropathy 1 35
1356 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 34
1357 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
1358 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 34
1359 c AML017 Amelogenesis Imperfecta, Type Ib 34
1360 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
1361 c AML047 Amelogenesis Imperfecta, Type Ia 33
1362 ACR122 Aica-Ribosuria Due to Atic Deficiency 32
1363 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 32
1364 c INF147 Infantile Nephronophthisis 31
1365 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31
1366 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 31
1367 FMR018 Femoral-Facial Syndrome 31
1368 c RNL125 Renal Tubular Acidosis, Distal, 1 31
1369 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
1370 c GLY043 Glycogen Storage Disease Xii 30
1371 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 30
1372 c HYP600 Hyperaldosteronism, Familial, Type Ii 30
1373 DCR010 Dicer1 Tumor Predisposition 30
1374 c FNC062 Fanconi Anemia, Complementation Group S 29
1375 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 29
1376 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 29
1377 FML029 Familial Renal Papillary Carcinoma 28
1378 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1379 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28
1380 RNL089 Renal Nutcracker Syndrome 27
1381 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
1382 c FNC066 Fanconi Renotubular Syndrome 5 27
1383 RTB001 Rat Bite Fever 26
1384 c FCL027 Focal Segmental Glomerulosclerosis 3 26
1385 c SYS066 Systemic Polyarteritis Nodosa 26
1386 3HY001 3-Hydroxyisobutyric Aciduria 26
1387 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
1388 c SNR015 Senior-Loken Syndrome 8 26
1389 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1390 c HYP720 Hyperparathyroidism 4 25
1391 c FML094 Familial Wilms Tumor 2 25
1392 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25
1393 c WLM005 Wilms Tumor 2 25
1394 c GLY001 Glycogen Storage Disease Ix 25
1395 HYP481 Hyperbiliverdinemia 24
1396 c ORF046 Orofaciodigital Syndrome Xvi 24
1397 RNL039 Renal Dysplasia-Limb Defects Syndrome 24
1398 c SNR016 Senior-Loken Syndrome 9 24
1399 IMM053 Immunotactoid Glomerulopathy 24
1400 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 24
1401 c HML036 Hemolytic Uremic Syndrome, Atypical 6 24
1402 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1403 c MTC182 Mitochondrial Dna Depletion Syndrome 16 23
1404 FCC002 Faciocardiorenal Syndrome 23
1405 c LDD008 Liddle Syndrome 2 23
1406 c NNN029 Noonan Syndrome 11 23
1407 NRF010 Neurofaciodigitorenal Syndrome 23
1408 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
1409 c ORF051 Orofaciodigital Syndrome Xvii 22
1410 c NPH108 Nephrotic Syndrome, Type 20 22
1411 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
1412 c AML050 Amelogenesis Imperfecta, Type if 22
1413 c ATS493 Autosomal Dominant Distal Renal Tubular Acidosis 21
1414 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1415 c JBR038 Joubert Syndrome 27 20
1416 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
1417 P HYP868 Hypophosphatemic Nephrolithiasis/osteoporosis 19
1418 c JBR048 Joubert Syndrome 36 19
1419 CRM007 Crome Syndrome 19
1420 UNL014 Unilateral Multicystic Dysplastic Kidney 19
1421 THY044 Thymic-Renal-Anal-Lung Dysplasia 19
1422 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 18
1423 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 18
1424 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
1425 c HYP311 Hyperparathyroidism 3 18
1426 c SYS041 Systemic Lupus Erythematosus 9 18
1427 c WLM017 Wilms Tumor 4 18
1428 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1429 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 17
1430 c JVN046 Juvenile Polymyositis 17
1431 c JBR049 Joubert Syndrome 37 17
1432 c SYS048 Systemic Lupus Erythematosus 8 17
1433 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 17
1434 c LDD009 Liddle Syndrome 3 17
1435 IGG011 Igg4-Related Kidney Disease 16
1436 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1437 c JVN036 Juvenile Sialidosis Type 2 16
1438 c MTC014 Mitochondrial Dna Deletion Syndromes 16
1439 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 15
1440 c CHR701 Charcot-Marie-Tooth Disease Type 1g 15
1441 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 15
1442 FTL074 Fetal Lower Urinary Tract Obstruction 15
1443 AFB003 Afib Amyloidosis 14
1444 IMM051 Immunotactoid or Fibrillary Glomerulopathy 14
1445 APM002 Aapoai Amyloidosis 14
1446 KDN008 Kidney Pelvis Papillary Carcinoma 14
1447 GRH002 Graham Boyle Troxell Syndrome 14
1448 RNL109 Renal Hypoplasia, Bilateral 14
1449 c VSC042 Vesicoureteral Reflux 5 13
1450 TBL026 Tubulocystic Renal Cell Carcinoma 13
1451 KDN010 Kidney Osteogenic Sarcoma 12
1452 c ORF005 Orofaciodigital Syndrome 12 11
1453 c SCN055 Secondary Polyarteritis Nodosa 11
1454 RNL107 Renal Dysplasia, Bilateral 10
1455 CNG337 Congenital Renal Artery Stenosis 9
1456 RNL106 Renal Dysplasia, Unilateral 9
1457 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
1458 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1459 RNL108 Renal Hypoplasia, Unilateral 8
1460 SNG013 Single-Organ Polyarteritis Nodosa 7
1461 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 7
1462 c RRH011 Rare Hyperparathyroidism 7
1463 c MLG004 Malignant Hypertensive Renal Disease 6
1464 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1465 RRR011 Rare Renal Tubular Disease 5
1466 c BLT012 Bilateral Renal Agenesis Dominant Type 4
1467 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
1468 IDP098 Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy 4
1469 c FML358 Familial Cystic Renal Disease 3
1470 RRG077 Rare Genetic Cause of Hypertension 3
1471 HMT022 Hematological Disorder with Renal Involvement 3
1472 ADR005 Adrenal Carcinoma 62
1473 MYL069 Myeloma, Multiple 77
1474 P SYS005 Systemic Scleroderma 74
1475 P OST001 Osteopetrosis 71
1476 P SRC025 Sarcoidosis 1 71
1477 P PSD087 Pseudoxanthoma Elasticum 67
1478 c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
1479 P PRP003 Porphyria Cutanea Tarda 66
1480 GTL001 Gitelman Syndrome 65
1481 PRP083 Porphyria, Acute Intermittent 65
1482 P ANR048 Aniridia 1 64
1483 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1484 P CHR071 Charcot-Marie-Tooth Disease 64
1485 NLP001 Nail-Patella Syndrome 63
1486 P HYP069 Hyperparathyroidism 62
1487 NPH091 Nephrolithiasis, Calcium Oxalate 61
1488 P LPS004 Lupus Erythematosus 61
1489 c TYR012 Tyrosinemia, Type I 61
1490 c PRT132 Protoporphyria, Erythropoietic, 1 61
1491 P DRM010 Dermatomyositis 61
1492 c SCL052 Scleroderma, Familial Progressive 61
1493 WLL001 Williams-Beuren Syndrome 61
1494 P GLM007 Glomerulonephritis 60
1495 DNY001 Denys-Drash Syndrome 57
1496 P DRR001 Diarrhea 55
1497 c RBN022 Robinow Syndrome, Autosomal Recessive 1 55
1498 MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 55
1499 P CCH009 Coach Syndrome 1 54
1500 CHR177 Chromophobe Renal Cell Carcinoma 54
1501 CLL002 Collecting Duct Carcinoma 54
1502 CLR030 Clear Cell Renal Cell Carcinoma 54
1503 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
1504 c BRD014 Bardet-Biedl Syndrome 2 53
1505 HRT031 Hartnup Disorder 52
1506 c NPH055 Nephrotic Syndrome, Type 1 52
1507 c NPH019 Nephronophthisis 1 52
1508 c NPH049 Nephrotic Syndrome, Type 2 51
1509 P RBN002 Robinow Syndrome 51
1510 IGG001 Iga Glomerulonephritis 50
1511 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 50
1512 c RBN018 Robinow Syndrome, Autosomal Dominant 1 50
1513 ARC002 Arachnoiditis 50
1514 c HYP602 Hyperoxaluria, Primary, Type Ii 49
1515 P CRY007 Cryoglobulinemia, Familial Mixed 49
1516 MYL003 Myeloid Sarcoma 48
1517 c MTC059 Mitochondrial Dna Depletion Syndrome 5 48
1518 c FML015 Familial Nephrotic Syndrome 48
1519 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 47
1520 PLM017 Pulmonary Alveolar Microlithiasis 47
1521 c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 47
1522 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 46
1523 c ATS082 Autosomal Dominant Robinow Syndrome 46
1524 RYN003 Reynolds Syndrome 46
1525 c DRR009 Diarrhea 6 45
1526 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
1527 c NPH054 Nephrotic Syndrome, Type 3 45
1528 CTY001 Cat Eye Syndrome 44
1529 P HYP761 Hypouricemia, Renal, 1 44
1530 CMP042 Complement Factor H Deficiency 44
1531 c NPH102 Nephrotic Syndrome, Type 14 44
1532 c MTC062 Mitochondrial Dna Depletion Syndrome 2 43
1533 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 43
1534 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1535 CNG029 Congenital Mesoblastic Nephroma 43
1536 RNL119 Renal Cell Carcinoma, Xp11-Associated 42
1537 c NPH067 Nephronophthisis 12 42
1538 HYP648 Hypertension and Brachydactyly Syndrome 42
1539 DNB001 Danubian Endemic Familial Nephropathy 41
1540 c OST106 Osteopetrosis, Autosomal Recessive 8 41
1541 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1542 INF159 Infantile Sialic Acid Storage Disease 41
1543 P HRD086 Hereditary Hypophosphatemic Rickets 40
1544 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40
1545 c ACT004 Acute Diarrhea 40
1546 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38
1547 c GLY044 Glycogen Storage Disease Ixc 37
1548 HYP249 Hyperthyroidism, Nonautoimmune 36
1549 P BTR001 Botryoid Rhabdomyosarcoma 36
1550 c TWN011 Townes-Brocks Syndrome 1 35
1551 c RBN020 Robinow Syndrome, Autosomal Dominant 3 34
1552 c OST125 Osteopetrosis, Autosomal Dominant 1 34
1553 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 34
1554 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 34
1555 P GLM015 Glomerulopathy with Fibronectin Deposits 2 34
1556 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33
1557 c ADL027 Adult Dermatomyositis 32
1558 IDP085 Idiopathic Infantile Hypercalcemia 32
1559 GLT011 Glutamine Deficiency, Congenital 32
1560 c FRS015 Fraser Syndrome 3 32
1561 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 31
1562 c INF002 Inflammatory Diarrhea 30
1563 c CNG478 Congenital Diarrhea 30
1564 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1565 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 30
1566 c ORF041 Orofaciodigital Syndrome X 30
1567 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 30
1568 c JBR045 Joubert Syndrome 33 29
1569 c FML324 Familial Porphyria Cutanea Tarda 29
1570 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 29
1571 LGH017 Leigh Syndrome with Nephrotic Syndrome 28
1572 c TBL033 Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 28
1573 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 28
1574 c SNR006 Senior-Loken Syndrome 6 28
1575 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
1576 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
1577 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 26
1578 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
1579 c NPH103 Nephrotic Syndrome, Type 15 26
1580 c RBN023 Robinow Syndrome, Autosomal Recessive 2 26
1581 c CHR026 Charcot-Marie-Tooth Disease Type X 25
1582 CTN019 Cutaneous Polyarteritis Nodosa 25
1583 c DRR018 Diarrhea 9 25
1584 c HML032 Hemolytic Uremic Syndrome, Atypical 4 25
1585 c ANR047 Aniridia 2 25
1586 c SNR007 Senior-Loken Syndrome 7 25
1587 c JVN019 Juvenile Temporal Arteritis 25
1588 c JBR021 Joubert Syndrome 18 24
1589 c ORF042 Orofaciodigital Syndrome Xi 24
1590 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
1591 c GLL045 Galloway-Mowat Syndrome 6 24
1592 c PX6002 Pax6-Related Aniridia 24
1593 c MCK036 Meckel Syndrome, Type 9 24
1594 RNL009 Renal Pelvis Squamous Cell Carcinoma 23
1595 c NPH070 Nephrotic Syndrome, Type 6 23
1596 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
1597 c ORF052 Orofaciodigital Syndrome Xviii 23
1598 IMM236 Immune-Mediated Thrombotic Thrombocytopenic Purpura 23
1599 c CHR135 Charcot-Marie-Tooth Disease Type 2a 23
1600 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
1601 c PLY176 Polycystic Kidney Disease 4 22
1602 c SYS040 Systemic Lupus Erythematosus 10 22
1603 STR088 Stratton-Parker Syndrome 21
1604 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 21
1605 c SYS069 Systemic Lupus Erythematosus 6 21
1606 c ORF045 Orofaciodigital Syndrome Xv 20
1607 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1608 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1609 c FML028 Familial Renal Oncocytoma 19
1610 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 19
1611 c ANR046 Aniridia 3 18
1612 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 18
1613 ANR043 Aniridia and Absent Patella 17
1614 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1615 c SYS065 Systemic Lupus Erythematosus 11 17
1616 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 16
1617 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
1618 c GLL043 Galloway-Mowat Syndrome 2 15
1619 APM001 Aapoaii Amyloidosis 14
1620 c NPH115 Nephrotic Syndrome, Type 23 13
1621 c SPS029 Spastic Paraplegia 19 13
1622 c CCH010 Coach Syndrome 2 13
1623 c SYS045 Systemic Lupus Erythematosus 14 13
1624 c RR2001 Ror2-Related Robinow Syndrome 13
1625 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
1626 c CCH011 Coach Syndrome 3 12
1627 c SYS067 Systemic Lupus Erythematosus 15 12
1628 c PRM222 Primary Polyarteritis Nodosa 11
1629 c ORF006 Orofaciodigital Syndrome 13 11
1630 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
1631 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1632 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
1633 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1634 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1635 URN009 Urinary System Disease 47
1636 c NRF024 Neurofibromatosis, Type I 72
1637 BHC003 Behcet Syndrome 71
1638 FBR012 Fabry Disease 70
1639 ATY005 Atypical Teratoid Rhabdoid Tumor 69
1640 P PLY014 Polycystic Kidney Disease 69
1641 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
1642 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1643 c RHB024 Rhabdomyosarcoma 2 67
1644 P RHB003 Rhabdomyosarcoma 66
1645 CHR103 Charge Syndrome 66
1646 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 65
1647 c LCL006 Localized Scleroderma 65
1648 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
1649 ELL001 Ellis-Van Creveld Syndrome 62
1650 TKY002 Takayasu Arteritis 62
1651 MCK005 Mckusick-Kaufman Syndrome 61
1652 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1653 c GLY003 Glycogen Storage Disease Iii 60
1654 P PLY041 Polymyositis 59
1655 c GLY005 Glycogen Storage Disease Vi 58
1656 c HYP731 Hyperaldosteronism, Familial, Type I 58
1657 BRG013 Buerger Disease 57
1658 CPR004 Coproporphyria, Hereditary 57
1659 P TWN003 Townes-Brocks Syndrome 55
1660 FRS002 Frasier Syndrome 54
1661 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 54
1662 ADN024 Adenine Phosphoribosyltransferase Deficiency 53
1663 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
1664 AMY082 Amyloidosis, Familial Visceral 52
1665 P HML001 Hemolytic-Uremic Syndrome 52
1666 MCR088 Microscopic Polyangiitis 51
1667 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51
1668 c MCK032 Meckel Syndrome, Type 3 49
1669 c MCK030 Meckel Syndrome, Type 7 49
1670 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1671 c JBR012 Joubert Syndrome 5 47
1672 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
1673 c HRD039 Hereditary Amyloidosis 45
1674 c MCK031 Meckel Syndrome, Type 2 45
1675 c MCK014 Meckel Syndrome, Type 5 45
1676 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45
1677 c GLY097 Glycogen Storage Disease Ixb 44
1678 c CNG190 Congenital Disorder of Glycosylation, Type Iib 44
1679 PRM237 Primary Hypomagnesemia 44
1680 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 44
1681 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
1682 RHY001 Rhyns Syndrome 42
1683 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
1684 P BRN042 Branchiootic Syndrome 41
1685 c BRD021 Bardet-Biedl Syndrome 9 40
1686 VNT030 Ventriculomegaly with Cystic Kidney Disease 39
1687 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 39
1688 c NPH076 Nephrotic Syndrome, Type 10 37
1689 c CRN109 Cranioectodermal Dysplasia 2 37
1690 c HYP438 Hyperaldosteronism, Familial, Type Iii 35
1691 c RNL113 Renal Failure, Progressive, with Hypertension 31
1692 TBS001 Tabes Dorsalis 31
1693 c ORF036 Orofaciodigital Syndrome Xiv 30
1694 c GLL040 Galloway-Mowat Syndrome 3 30
1695 c NNN024 Noonan Syndrome 9 30
1696 c NPH096 Nephrotic Syndrome, Type 12 29
1697 c GLY023 Glycogen Storage Disease Type 0 27
1698 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 27
1699 c MCK035 Meckel Syndrome, Type 10 25
1700 c HRD219 Hereditary Distal Renal Tubular Acidosis 25
1701 THV001 Thauvin-Robinet-Faivre Syndrome 24
1702 P ATS324 Autosomal Erythropoietic Protoporphyria 24
1703 c MCK026 Meckel Syndrome 12 24
1704 c NPH074 Nephrotic Syndrome, Type 9 24
1705 c JBR027 Joubert Syndrome 16 23
1706 c MCK020 Meckel Syndrome, Type 11 23
1707 c JBR047 Joubert Syndrome 35 23
1708 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
1709 c GLL047 Galloway-Mowat Syndrome 8 22
1710 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1711 c TBL034 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 21
1712 P RBN007 Rubinstein Taybi Like Syndrome 20
1713 c NPH104 Nephrotic Syndrome, Type 16 20
1714 OCL043 Oculorenocerebellar Syndrome 20
1715 BRK013 Birk-Landau-Perez Syndrome 18
1716 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 17
1717 c SYS051 Systemic Lupus Erythematosus 4 16
1718 c OLV005 Olivopontocerebellar Atrophy V 15
1719 c SYS052 Systemic Lupus Erythematosus 13 15
1720 DNT019 Daentl Towsend Siegel Syndrome 12
1721 c ATS481 Autosomal Dominant Beta Thalassemia 10
1722 RNL032 Renal Caliceal Diverticuli Deafness 10
1723 c RNL048 Renal Tubular Acidosis, Distal, Type 3 7
1724 SCK003 Sickle Cell Anemia 74
1725 P LVR013 Liver Disease 69
1726 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
1727 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
1728 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
1729 c HRD010 Hereditary Spastic Paraplegia 66
1730 MCK007 Muckle-Wells Syndrome 64
1731 P DNT020 Dent Disease 1 63
1732 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 62
1733 c ACT134 Acute Liver Failure 59
1734 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1735 P SNR003 Senior-Loken Syndrome 1 58
1736 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1737 APP015 Apparent Mineralocorticoid Excess 57
1738 GLT035 Glutaric Acidemia I 57
1739 ARM010 Arima Syndrome 56
1740 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1741 PTS001 Patau Syndrome 56
1742 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 55
1743 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1744 HNC001 Henoch-Schoenlein Purpura 54
1745 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
1746 FNC009 Fanconi-Bickel Syndrome 53
1747 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
1748 c PSD047 Pseudo-Turner Syndrome 52
1749 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1750 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50
1751 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49
1752 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
1753 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
1754 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48
1755 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1756 c JBR004 Joubert Syndrome 2 48
1757 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48
1758 GLC106 Glucocorticoid Resistance, Generalized 48
1759 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 47
1760 c BRD032 Bardet-Biedl Syndrome 14 46
1761 P SLL003 Salla Disease 45
1762 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1763 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
1764 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 44
1765 c SRC023 Sarcoidosis 2 44
1766 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
1767 c INF145 Infantile Liver Failure Syndrome 1 43
1768 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 43
1769 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1770 TRN021 Transaldolase Deficiency 43
1771 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
1772 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
1773 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
1774 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
1775 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1776 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
1777 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
1778 HYP870 Hyperuricemia, Hprt-Related 42
1779 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 41
1780 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
1781 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
1782 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1783 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1784 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
1785 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1786 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 40
1787 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1788 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 40
1789 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 39
1790 c CNG379 Congenital Disorder of Glycosylation, Type It 39
1791 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39
1792 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 39
1793 c CNG189 Congenital Disorder of Glycosylation, Type Ib 39
1794 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
1795 c BRD048 Bardet-Biedl Syndrome 18 39
1796 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
1797 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1798 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 38
1799 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
1800 P FML156 Familial Hyperaldosteronism 38
1801 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1802 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38
1803 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1804 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
1805 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 37
1806 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
1807 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1808 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36
1809 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
1810 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
1811 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1812 c SYS061 Systemic Lupus Erythematosus 16 35
1813 c LVR030 Liver Failure, Infantile, Transient 34
1814 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33
1815 c SPS092 Spastic Paraplegia 11 33
1816 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 33
1817 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
1818 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 33
1819 P SPS012 Spastic Paraplegia 3a 32
1820 c HRD220 Hereditary Spastic Paraplegia 30 32
1821 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
1822 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1823 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
1824 c SPS013 Spastic Paraplegia 8 31
1825 c SPS025 Spastic Paraplegia 15 30
1826 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 30
1827 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1828 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1829 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1830 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1831 c INF194 Infantile Liver Failure Syndrome 29
1832 c HRD186 Hereditary Spastic Paraplegia 51 29
1833 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1834 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 28
1835 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1836 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 28
1837 c HRD188 Hereditary Spastic Paraplegia 72 28
1838 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1839 c INF138 Infantile Liver Failure Syndrome 2 28
1840 c SPS021 Spastic Paraplegia 10 27
1841 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 27
1842 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
1843 c SPS091 Spastic Paraplegia 4 27
1844 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1845 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1846 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1847 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
1848 c SPS041 Spastic Paraplegia 6 26
1849 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 25
1850 c MCK028 Meckel Syndrome 13 25
1851 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1852 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 24
1853 c SPS027 Spastic Paraplegia 17 23
1854 c HRD210 Hereditary Spastic Paraplegia 23 22
1855 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
1856 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1857 c NPH093 Nephrotic Syndrome, Type 13 21
1858 c INF190 Infantile Liver Failure Syndrome 3 21
1859 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1860 c SPS038 Spastic Paraplegia 39 21
1861 c SPS042 Spastic Paraplegia 9 21
1862 c SPS023 Spastic Paraplegia 13 21
1863 c SPS022 Spastic Paraplegia 12 18
1864 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 17
1865 c SPS028 Spastic Paraplegia 18 16
1866 c SPS034 Spastic Paraplegia 26 16
1867 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1868 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 15
1869 c SPS032 Spastic Paraplegia 24 14
1870 c CLC009 Clcn7-Related Osteopetrosis 14
1871 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1872 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1873 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1874 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
1875 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1876 P FRS017 Fraser-Like Syndrome 13
1877 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
1878 c SPS035 Spastic Paraplegia 29 13
1879 c INT094 Intermediate Severe Salla Disease 13
1880 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
1881 c SPS024 Spastic Paraplegia 14 12
1882 c SPS165 Spastic Paraplegia 47 12
1883 c SPS161 Spastic Paraplegia 32 11
1884 c SPS026 Spastic Paraplegia 16 11
1885 c SPS033 Spastic Paraplegia 25 11
1886 c SPS230 Spastic Paraplegia Type 49 10
1887 c SPS040 Spastic Paraplegia 5b 7
1888 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
1889 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
1890 c MCP050 Mucopolysaccharidosis, Type Ii 74
1891 P FML018 Familial Mediterranean Fever 73
1892 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1893 c MCP001 Mucopolysaccharidosis Iii 69
1894 c MCP052 Mucopolysaccharidosis, Type Vi 67
1895 P TRN020 Turner Syndrome 67
1896 c WLM013 Wilms Tumor 1 66
1897 c MCP049 Mucopolysaccharidosis, Type Vii 63
1898 c GLY004 Glycogen Storage Disease V 62
1899 c MCP047 Mucopolysaccharidosis, Type Iva 62
1900 c MCP043 Mucopolysaccharidosis, Type Iiia 61
1901 c MCP004 Mucopolysaccharidosis Iv 61
1902 c MCP044 Mucopolysaccharidosis, Type Iiib 59
1903 c ORF037 Orofaciodigital Syndrome I 59
1904 c MCP045 Mucopolysaccharidosis, Type Iiic 59
1905 P LDD007 Liddle Syndrome 1 57
1906 c RBN021 Rubinstein-Taybi Syndrome 1 57
1907 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 56
1908 P URF003 Urofacial Syndrome 1 56
1909 c ORF034 Orofaciodigital Syndrome Vi 55
1910 c ALM001 Al Amyloidosis 54
1911 c OST131 Osteopetrosis, Autosomal Dominant 2 52
1912 c MCP048 Mucopolysaccharidosis, Type Ivb 52
1913 P RNL028 Renal Tubular Dysgenesis 51
1914 c MCP046 Mucopolysaccharidosis, Type Iiid 50
1915 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1916 c ORF035 Orofaciodigital Syndrome Iv 48
1917 c GLY098 Glycogen Storage Disease, Type Ixd 45
1918 P HYP111 Hyperprolinemia 45
1919 c ATS282 Autosomal Recessive Malignant Osteopetrosis 45
1920 c ORF033 Orofaciodigital Syndrome V 43
1921 c HYP597 Hyperprolinemia, Type Ii 43
1922 c HYP248 Hyperprolinemia, Type I 42
1923 c BRD044 Bardet-Biedl Syndrome 17 41
1924 c MCP051 Mucopolysaccharidosis, Type Ix 39
1925 VRH001 Verheij Syndrome 39
1926 c NNN009 Noonan Syndrome 2 38
1927 c GLY009 Glycogen Storage Disease Xv 37
1928 c ORF038 Orofaciodigital Syndrome Iii 36
1929 c ORF043 Orofaciodigital Syndrome Ix 35
1930 c ALG016 Alagille Syndrome 2 34
1931 c GLY006 Glycogen Storage Disease Viii 33
1932 c CRN111 Cranioectodermal Dysplasia 4 31
1933 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1934 c JBR036 Joubert Syndrome 25 31
1935 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
1936 c GLY059 Glycogen Storage Disease Xiii 25
1937 c GLL046 Galloway-Mowat Syndrome 7 24
1938 c NNN036 Noonan Syndrome 13 24
1939 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 21
1940 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
1941 c ORF039 Orofaciodigital Syndrome Vii 20
1942 c SRC024 Sarcoidosis 3 18
1943 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
1944 CHL028 Childhood Type Dermatomyositis 59
1945 c OST136 Osteopetrosis, Autosomal Recessive 7 50
1946 P DST107 Distal Renal Tubular Acidosis 48
1947 c BRD015 Bardet-Biedl Syndrome 3 48
1948 c NNN010 Noonan Syndrome 3 47
1949 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1950 P GLL032 Galloway-Mowat Syndrome 46
1951 c OST134 Osteopetrosis, Autosomal Recessive 6 44
1952 c OST129 Osteopetrosis, Autosomal Recessive 2 44
1953 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
1954 c NNN020 Noonan Syndrome 7 38
1955 c PSD117 Pseudohypoparathyroidism, Type Ic 37
1956 c NNN021 Noonan Syndrome 8 37
1957 INT224