Nephrological Diseases Category (1917 diseases)


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

# Family MCID Name MIFTS
1 P BLD134 Bladder Cancer 78
2 P MPL001 Maple Syrup Urine Disease 69
3 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 36
4 NRG002 Neurogenic Bladder 54
5 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 39
6 c MCR113 Microvascular Complications of Diabetes 3 52
7 P IGN003 Iga Nephropathy 1 49
8 BLD131 Bladder Urothelial Carcinoma 61
9 RNL051 Renal Cysts and Diabetes Syndrome 55
10 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
11 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 29
12 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 49
13 P HYP658 Hypoplastic Amelogenesis Imperfecta 25
14 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 21
15 BLD029 Bladder Dome Cancer 9
16 SML031 Small Cell Carcinoma of the Bladder 46
17 CNG116 Congenital Nephrotic Syndrome Finnish Type 19
18 SPR001 Superficial Urinary Bladder Cancer 22
19 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 45
20 LWC001 Low Compliance Bladder 42
21 BLD049 Bladder Transitional Cell Papilloma 34
22 NPH002 Nephrogenic Adenoma of Urinary Bladder 25
23 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 22
24 BLD026 Bladder Trigone Cancer 6
25 BLD047 Bladder Squamous Cell Carcinoma 30
26 c BLD008 Bladder Carcinoma in Situ 30
27 URN022 Urinary Tract Infections, Recurrent 26
28 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 24
29 URN005 Urinary Bladder Villous Adenoma 24
30 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19
31 BNR003 Ben Ari Shuper Mimouni Syndrome 7
32 JWT001 Jewett-Marshall Bladder Cancer 6
33 URN003 Urinary Schistosomiasis 44
34 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 44
35 c MCR112 Microvascular Complications of Diabetes 2 41
36 BLD025 Bladder Sarcoma 29
37 RNL094 Renal Dysplasia, Cystic 36
38 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
39 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
40 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 29
41 BLD003 Bladder Lateral Wall Cancer 24
42 c BKV001 Bk-Virus Nephropathy 23
43 BLD046 Bladder Papillary Transitional Cell Neoplasm 23
44 URN004 Urinary Bladder Inverted Papilloma 22
45 BLD169 Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut 15
46 OBS860 Obsolete: Familial Juvenile Hyperuricemic Nephropathy Type 1 13
47 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 12
48 BLD027 Bladder Neck Cancer 6
49 c URN006 Urinary Bladder Posterior Wall Cancer 5
50 P URN007 Urinary Bladder Anterior Wall Cancer 5
51 c MCR120 Microvascular Complications of Diabetes 7 47
52 c MCR133 Microvascular Complications of Diabetes 4 41
53 c MCR130 Microvascular Complications of Diabetes 6 41
54 NPH037 Nephronophthisis-Like Nephropathy 1 33
55 CYS010 Cystinosis 60
56 DCR008 Dicarboxylic Aminoaciduria 44
57 CYS045 Cystinosis, Adult Nonnephropathic 30
58 BLD023 Bladder Leiomyoma 27
59 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 26
60 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
61 RNL097 Renal Artery Disease 43
62 HNM002 Hinman Syndrome 29
63 BLD028 Bladder Lymphoma 27
64 RNL008 Renal Artery Atheroma 26
65 BLD065 Blue Diaper Syndrome 20
66 RDL030 Radial-Renal Syndrome 18
67 BRC111 Brachymesomelia-Renal Syndrome 15
68 BLD022 Bladder Flat Intraepithelial Lesion 6
69 NPH018 Nephrogenic Systemic Fibrosis 50
70 IMN001 Iminoglycinuria 45
71 P FNC026 Fanconi Renotubular Syndrome 1 36
72 c IGN004 Iga Nephropathy 3 25
73 c FNC034 Fanconi Renotubular Syndrome 2 19
74 c FNC049 Fanconi Renotubular Syndrome 3 19
75 c PRG011 Progressive Myoclonus Epilepsy 42
76 HYP348 Hyperglycinuria 41
77 P MYC026 Myoclonus Epilepsy 35
78 PNT006 Pentosuria 28
79 ACR102 Acrorenal-Mandibular Syndrome 28
80 BTM003 Beta-Aminoisobutyric Aciduria 20
81 c PRG145 Progressive Myoclonus Epilepsy 6 14
82 c PRG140 Progressive Myoclonus Epilepsy 4 12
83 c PRG143 Progressive Myoclonus Epilepsy 7 11
84 c PRG148 Progressive Myoclonus Epilepsy 1a 11
85 c PRG141 Progressive Myoclonus Epilepsy 10 10
86 c PRG142 Progressive Myoclonus Epilepsy 3 9
87 c PRG146 Progressive Myoclonus Epilepsy 9 9
88 c PRG147 Progressive Myoclonus Epilepsy 8 7
89 c PRG144 Progressive Myoclonus Epilepsy 1b 7
90 P GLL020 Gallbladder Disease 58
91 URN010 Urinary Tract Obstruction 57
92 c GLL024 Gallbladder Disease 1 52
93 HYP114 Hypertensive Nephropathy 34
94 RNL013 Renal Adenoma 31
95 c GLL027 Gallbladder Disease 4 27
96 WBB001 Webb-Dattani Syndrome 23
97 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 23
98 c IGN002 Iga Nephropathy 2 19
99 DBL008 Double Uterus-Hemivagina-Renal Agenesis 17
100 ERY007 Erythropoietin Polycythemia 15
101 HST019 Histidinuria Due to a Renal Tubular Defect 15
102 BLR029 Biliary Malformation with Renal Tubular Insufficiency 14
103 c GLL026 Gallbladder Disease 3 13
104 PLY043 Polyomavirus Allograft Nephropathy 13
105 c GLL025 Gallbladder Disease 2 12
106 BTM002 Beta-Amino Acids, Renal Transport of 12
107 RNL036 Renal Dysplasia Diffuse Cystic 12
108 NPH025 Nephrotic Syndrome Ocular Anomalies 8
109 OBS665 Obsolete: Shy-Drager Syndrome 7
110 GRN023 Green Sandford Davison Syndrome 7
111 STN004 Stone in Bladder Diverticulum 6
112 HST012 Histidinuria Renal Tubular Defect 6
113 INB002 Inborn Renal Aminoaciduria 6
114 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 5
115 BLD011 Bladder Verrucous Squamous Cell Carcinoma 5
116 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
117 BLD012 Bladder Urothelial Papillary Carcinoma 5
118 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 5
119 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 5
120 NNT002 Neonatal Urinary Tract Infectious Disease 5
121 RDR001 Radio Renal Syndrome 4
122 NNR001 Non-Renal Secondary Hyperparathyroidism 4
123 P OBS900 Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 4
124 OBS907 Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 4
125 GNT076 Genetic Renal or Urinary Tract Malformation 2
126 GNT143 Genetic Non-Syndromic Renal or Urinary Tract Malformation 2
127 P MCR115 Microvascular Complications of Diabetes 5 66
128 HST006 Histidinemia 47
129 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 44
130 URT031 Ureteral Disease 42
131 RTR011 Retroperitoneal Fibrosis 40
132 BLD040 Bladder Benign Neoplasm 29
133 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 22
134 P C1Q005 C1q Nephropathy 22
135 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 22
136 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 19
137 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 18
138 MPL011 Maple Syrup Urine Disease, Mild Variant 17
139 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 16
140 ACT006 Acute Gonococcal Cystitis 10
141 c LTH007 Lethal Congenital Contracture Syndrome 1 51
142 CYS019 Cystathioninuria 45
143 VCT001 Vacterl Association 44
144 P LTH003 Lethal Congenital Contracture Syndrome 42
145 PYR004 Pyuria 39
146 c LTH008 Lethal Congenital Contracture Syndrome 2 36
147 PLV001 Pelvic Lipomatosis 35
148 CMB011 Combined Malonic and Methylmalonic Aciduria 35
149 HWK001 Hawkinsinuria 35
150 CLC011 Cloacal Exstrophy 35
151 c LTH047 Lethal Congenital Contracture Syndrome 3 27
152 GLT014 Glutathionuria 26
153 BRN121 Branchiootorenal/branchiootic Syndrome 25
154 c LTH030 Lethal Congenital Contracture Syndrome 8 24
155 c LTH039 Lethal Congenital Contracture Syndrome 11 24
156 c LTH032 Lethal Congenital Contracture Syndrome 7 24
157 c LTH027 Lethal Congenital Contracture Syndrome 5 24
158 c LTH029 Lethal Congenital Contracture Syndrome 9 24
159 c LTH042 Lethal Congenital Contracture Syndrome 10 22
160 c LTH031 Lethal Congenital Contracture Syndrome 6 22
161 c LTH026 Lethal Congenital Contracture Syndrome 4 21
162 STR095 Structural Heart Defects and Renal Anomalies Syndrome 19
163 ELL004 Ellis Yale Winter Syndrome 7
164 LCH006 Lachiewicz Sibley Syndrome 6
165 P CTS001 Cutis Laxa 62
166 QFV001 Q Fever 58
167 SPT004 Septic Arthritis 57
168 P HYP726 Hypercalcemia, Infantile, 1 57
169 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 54
170 INV006 Inverted Papilloma 52
171 c CTS045 Cutis Laxa, Autosomal Dominant 1 51
172 c 3MT015 3-Methylglutaconic Aciduria, Type I 51
173 PRS129 Prostatic Hyperplasia, Benign 49
174 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 48
175 HNT002 Hantavirus Pulmonary Syndrome 47
176 c 3MT014 3-Methylglutaconic Aciduria, Type V 45
177 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 44
178 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
179 c ATS393 Autosomal Recessive Cutis Laxa Type I 43
180 c ORT011 Orthostatic Hypotension 1 43
181 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 43
182 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 42
183 DFF021 Diffuse Mesangial Sclerosis 42
184 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 42
185 c 3MT024 3-Methylglutaconic Aciduria, Type Vii 41
186 c MLG074 Malignant Mesenchymoma 39
187 HMR023 Hemorrhagic Cystitis 38
188 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
189 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
190 P MSN006 Mesenchymoma 36
191 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
192 c MYG007 Myoglobinuria, Recurrent 36
193 c 3MT007 3-Methylglutaconic Aciduria 36
194 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 36
195 HLZ001 Holzgreve Syndrome 34
196 TFR002 Tafro Syndrome 33
197 RNL001 Renal Artery Obstruction 33
198 MLK004 Malakoplakia 33
199 FML031 Female Stress Incontinence 32
200 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
201 HMR046 Hemorrhagic Fever-Renal Syndrome 30
202 5XP001 5-Oxoprolinase Deficiency 29
203 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
204 CYS003 Cystitis Cystica 29
205 c BNG012 Benign Mesenchymoma 28
206 c ORT012 Orthostatic Hypotension 2 27
207 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
208 LMB076 Lumbar Syndrome 26
209 c ACQ027 Acquired Cutis Laxa 26
210 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
211 P PRM227 Primary Orthostatic Hypotension 25
212 HYP683 Hypogonadism-Cataract Syndrome 24
213 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
214 c LTB003 Ltbp4-Related Cutis Laxa 24
215 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 24
216 c INT262 Intermediate Maple Syrup Urine Disease 24
217 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 23
218 c EFM001 Efemp2-Related Cutis Laxa 23
219 P RTN220 Retinal Ciliopathy 23
220 c ATP003 Atp6v0a2-Related Cutis Laxa 20
221 VSC014 Vascular Hyalinosis 20
222 c FBL003 Fbln5-Related Cutis Laxa 19
223 NPH097 Nephrosialidosis 18
224 GLM024 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 18
225 LNP001 Loin Pain Hematuria Syndrome 17
226 PX2001 Pax2-Related Disorder 16
227 MTH075 Methionine Malabsorption Syndrome 15
228 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 13
229 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 13
230 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 13
231 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 12
232 RNL116 Renal and Mullerian Duct Hypoplasia 12
233 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 11
234 c ADL020 Adult Malignant Mesenchymoma 11
235 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
236 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 10
237 KLL010 Kallikrein, Decreased Urinary Activity of 9
238 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 9
239 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
240 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
241 VCT003 Vacterl Hydrocephaly 8
242 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
243 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
244 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
245 SLG001 Selig Benacerraf Greene Syndrome 6
246 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 6
247 NPH099 Nephropathy, Chronic Tubulointerstitial 6
248 JJN005 Jejunal Atresia with Renal Adysplasia 6
249 OBS904 Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 6
250 BLD024 Bladder Squamous Papilloma 5
251 ACR045 Acro-Pectoro-Renal Field Defect 5
252 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
253 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 5
254 GLY095 Glycoprotein, Renal 4
255 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
256 OBS153 Obsolete: Craniosynostosis-Synostoses-Hypertensive Nephropathy Syndrome 4
257 RRG073 Rare Genetic Renal Disease 4
258 PLM171 Pulmonic Stenosis and Congenital Nephrosis 4
259 ALL011 Allain-Babin-Demarquez Syndrome 4
260 GNT063 Genetic Renal Tubular Disease 4
261 OBS876 Obsolete: Cardiomyopathy-Renal Anomalies Syndrome 3
262 P OBS897 Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 3
263 P OBS898 Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 3
264 P OBS899 Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 3
265 c OBS902 Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 3
266 RNL124 Renal Disease with Cataract 3
267 OBS905 Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 3
268 OBS908 Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 3
269 OBS604 Obsolete: Arterial Hypertension Due to Renal Artery Stenosis Secondary to Vasculitis 3
270 OBS650 Obsolete: Platelet Function Disease Associated with Renal Insufficiency 3
271 BLL008 Billet Bear Syndrome 2
272 GNT064 Genetic Renal Tumor 2
273 NPH109 Nephropathy-Associated Ciliopathy 2
274 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 2
275 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 2
276 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 2
277 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 2
278 OBS652 Obsolete: Non-Pore-Loop Channelopathy Involved in Other Renal Tubular Disorder 2
279 P HML033 Hemolytic Uremic Syndrome, Atypical 1 69
280 P ZLL001 Zellweger Syndrome 64
281 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
282 P THR005 Thrombotic Thrombocytopenic Purpura 61
283 c GLY060 Glycogen Storage Disease Ia 61
284 c PRT132 Protoporphyria, Erythropoietic, 1 61
285 HYD002 Hydronephrosis 59
286 P PYL005 Pyelonephritis 56
287 PRP082 Porphyria, Congenital Erythropoietic 55
288 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
289 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 49
290 P RNV001 Renovascular Hypertension 49
291 URT001 Urethritis 48
292 BCT004 Bacteriuria 48
293 c FNC028 Fanconi Anemia, Complementation Group L 48
294 PDT035 Pediatric Systemic Lupus Erythematosus 46
295 c NNN011 Noonan Syndrome 4 44
296 INT258 Interstitial Nephritis, Karyomegalic 44
297 P RPD001 Rapidly Progressive Glomerulonephritis 44
298 c ACT042 Acute Pyelonephritis 44
299 P PRL003 Proliferative Glomerulonephritis 44
300 PRS042 Prostate Disease 44
301 CRS001 Crescentic Glomerulonephritis 43
302 URT037 Urethral Stricture 43
303 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
304 URT014 Ureterolithiasis 42
305 P ANT061 Antenatal Bartter Syndrome 40
306 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 38
307 c CTR130 Cataract 9, Multiple Types 38
308 URT020 Ureterocele 37
309 MTN001 Metanephric Adenoma 37
310 c BRD035 Bardet-Biedl Syndrome 15 37
311 c ACT079 Acute Proliferative Glomerulonephritis 37
312 ACT040 Acute Poststreptococcal Glomerulonephritis 36
313 c FNC059 Fanconi-Like Syndrome 36
314 PYL004 Pyelitis 36
315 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 36
316 c CHR098 Chronic Pyelonephritis 35
317 c CHR087 Chronic Cystitis 35
318 c TYP024 Type Ii Mixed Cryoglobulinemia 34
319 HRS011 Horseshoe Kidney 34
320 KDN013 Kidney Hypertrophy 34
321 PRN007 Perinephritis 33
322 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 32
323 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 32
324 RDT001 Radiation Cystitis 32
325 TRG001 Trigonitis 31
326 OSC001 Oeis Complex 30
327 c CTR185 Cataract 30 30
328 URT016 Urethral Diverticulum 30
329 P VNM004 Van Maldergem Syndrome 30
330 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 30
331 c CTR175 Cataract 24 29
332 c VNM002 Van Maldergem Syndrome 2 28
333 XNT001 Xanthogranulomatous Pyelonephritis 28
334 c CTR181 Cataract 18 28
335 URT011 Urethral Calculus 27
336 DFF015 Diffuse Glomerulonephritis 27
337 OMS001 Omsk Hemorrhagic Fever 27
338 ORT001 Orthostatic Proteinuria 26
339 P TTR028 Tetraamelia Syndrome 1 26
340 STN013 Stenotrophomonas Maltophilia Infection 25
341 MXD010 Mixed Epithelial Stromal Tumour 25
342 c TRN053 Transient Pseudohypoaldosteronism 25
343 c HML032 Hemolytic Uremic Syndrome, Atypical 4 24
344 c GLL041 Galloway-Mowat Syndrome 4 24
345 c CTR116 Cataract 15, Multiple Types 24
346 KDN009 Kidney Fibrosarcoma 23
347 c CTR136 Cataract 41 23
348 c JBR044 Joubert Syndrome 31 23
349 c MCK036 Meckel Syndrome, Type 9 22
350 ACT041 Acute Diffuse Nephritis 22
351 c TTR029 Tetraamelia Syndrome 2 21
352 c CTR163 Cataract 46, Juvenile-Onset 21
353 ADN090 Adenosylcobalamin Deficiency 21
354 c HYP712 Hypercalcemia, Infantile, 2 20
355 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 20
356 c SNR007 Senior-Loken Syndrome 7 20
357 c CTR139 Cataract 42 20
358 c CTR106 Cataract 20, Multiple Types 20
359 ATR053 Atresia of Urethra 19
360 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 19
361 HVY003 Heavy Chain Deposition Disease 19
362 PYL001 Pyeloureteritis Cystica 18
363 c PRT135 Protoporphyria, Erythropoietic, 2 18
364 EXD002 Exudative Glomerulonephritis 17
365 CNG330 Congenital Megacalycosis 16
366 CMP052 Complication in Hemodialysis 15
367 CLL035 Collagen Type Iii Glomerulopathy 15
368 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
369 c TRN078 Transient Antenatal Bartter Syndrome 14
370 URC013 Urachal Diverticulum 13
371 MGL007 Megalocytic Interstitial Nephritis 13
372 c VSC041 Vesicoureteral Reflux 7 12
373 MGC005 Megacystis-Megaureter Syndrome 11
374 KDN003 Kidney Lipoma 11
375 KDN005 Kidney Liposarcoma 11
376 c BNG028 Benign Renovascular Hypertension 10
377 c AML063 Amelogenesis Imperfecta Type 2a1 9
378 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 9
379 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
380 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 7
381 c GLL043 Galloway-Mowat Syndrome 2 6
382 CNG106 Congenital Megalo-Ureter 6
383 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 5
384 INF182 Infection-Related Hemolytic Uremic Syndrome 5
385 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
386 CNG269 Congenital Primary Megaureter, Refluxing Form 4
387 BLK002 Balkan Hemorrhagic Fever 4
388 STR004 Stricture or Kinking of Ureter 4
389 NNC001 Non-Congenital Cyst of Kidney 4
390 BNG089 Benign Metanephric Tumour 4
391 FCL004 Focal Embolic Glomerulonephritis 3
392 ATH002 Atheroembolism of Kidney 3
393 GNT183 Genetic Systemic Disease with Glomerulopathy As a Major Feature 3
394 GNT181 Genetic Primary Hypomagnesemia with Hypocalciuria 3
395 DSR087 Disorder with Multisystemic Involvement and Glomerulopathy 2
396 BLD039 Bladder Adenocarcinoma 32
397 HMT008 Hematuria, Benign Familial 53
398 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 26
399 BLD031 Bladder Signet Ring Cell Adenocarcinoma 17
400 BLD043 Bladder Clear Cell Adenocarcinoma 29
401 INV004 Invasive Bladder Transitional Cell Carcinoma 32
402 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 10
403 RRR008 Rare Urinary Tract Tumor 6
404 c MCR129 Microvascular Complications of Diabetes 1 66
405 TRN018 Transitional Cell Carcinoma 56
406 DNR002 Duane-Radial Ray Syndrome 55
407 URT023 Ureteric Orifice Cancer 27
408 CHR176 Chromophil Renal Cell Carcinoma 23
409 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 17
410 RNL112 Renal, Genital, and Middle Ear Anomalies 12
411 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
412 NNN004 Non-Invasive Bladder Urothelial Carcinoma 9
413 BLD010 Bladder Colloid Adenocarcinoma 7
414 BLD014 Bladder Colonic Type Adenocarcinoma 6
415 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 5
416 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
417 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 5
418 c OBS906 Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 4
419 ALK013 Alkaptonuria 58
420 AMN007 Aminoacylase 1 Deficiency 35
421 SQL002 Squalene Synthase Deficiency 23
422 P FML068 Familial Hypocalciuric Hypercalcemia 54
423 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 47
424 SCL046 Scalp-Ear-Nipple Syndrome 43
425 ADL060 Adult Polyglucosan Body Disease 35
426 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 35
427 HYD030 Hydroxykynureninuria 27
428 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 26
429 BRN134 Brain Malformations with or Without Urinary Tract Defects 26
430 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 19
431 c MYG006 Myoglobinuria, Autosomal Dominant 16
432 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
433 MLT157 Multiple System Atrophy 1 70
434 LMY014 Leiomyoma, Uterine 56
435 ALP077 Alpha-Methylacetoacetic Aciduria 56
436 P EMB005 Embryonal Rhabdomyosarcoma 53
437 GLY014 Glycerol Kinase Deficiency 49
438 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 45
439 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
440 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 38
441 BLB005 Beaulieu-Boycott-Innes Syndrome 36
442 MCR257 Microcephaly, Amish Type 34
443 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 33
444 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
445 c RHB021 Rhabdomyosarcoma, Embryonal, 2 23
446 CMB084 Combined Oxidative Phosphorylation Deficiency 34 22
447 MLY011 Maleylacetoacetate Isomerase Deficiency 19
448 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
449 FRS010 Forsythe-Wakeling Syndrome 19
450 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 16
451 CLP007 Clpb Deficiency 15
452 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
453 URT041 Urethral Obstruction Sequence 13
454 NPH050 Nephropathy, Progressive, with Deafness 13
455 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
456 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 11
457 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 10
458 BLD050 Bladder Urachal Carcinoma 9
459 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
460 SNT001 Santos Mateus Leal Syndrome 8
461 P OBS777 Obsolete: Male Infertility with Impaired Virilization 8
462 BLD021 Bladder Urachal Adenocarcinoma 7
463 c OBS792 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder 6
464 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
465 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 6
466 FRS005 Fraser Jequier Chen Syndrome 6
467 c OBS790 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect 6
468 BLD004 Bladder Urachal Urothelial Carcinoma 5
469 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
470 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
471 GLL001 Gall Bladder Carcinoma in Situ 5
472 ALS004 Alsing Syndrome 5
473 BLD017 Bladder Mixed Adenocarcinoma 4
474 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
475 c OBS776 Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder 4
476 c OBS791 Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia 4
477 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
478 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
479 OCL029 Oculo Skeletal Renal Syndrome 3
480 OBS173 Obsolete: Neuroaxonal Dystrophy-Renal Tubular Acidosis Syndrome 3
481 OBS177 Obsolete: Oculo-Skeletal-Renal Syndrome 3
482 c OBS901 Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 3
483 c OBS903 Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 3
484 c OBS769 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease 3
485 c OBS782 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease 3
486 c OBS783 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure 3
487 c OBS784 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity 3
488 c OBS785 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease 3
489 c OBS786 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis 3
490 c OBS787 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder 3
491 c OBS788 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease 3
492 c OBS789 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness 3
493 c OBS793 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related 3
494 c OBS794 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin 3
495 c OBS795 Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis 3
496 c OBS796 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma 3
497 OBS109 Obsolete: Familial Renal Cell Carcinoma 3
498 NNR019 Non-Rare Renal Disease 3
499 c TBR025 Tuberous Sclerosis 1 76
500 P JBR020 Joubert Syndrome 1 72
501 c TBR026 Tuberous Sclerosis 2 71
502 P KDN018 Kidney Disease 70
503 ALP103 Alpha-1-Antitrypsin Deficiency 63
504 c ACT068 Acute Cystitis 63
505 P PRM002 Primary Hyperoxaluria 62
506 P CTR002 Cataract 60
507 CHR001 Churg-Strauss Syndrome 60
508 P GLY013 Glycogen Storage Disease 59
509 c ACT071 Acute Kidney Failure 59
510 P CYS018 Cystitis 59
511 END030 End Stage Renal Failure 58
512 ADL030 Adult-Onset Still's Disease 58
513 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 57
514 VRG001 Variegate Porphyria 56
515 P BRT004 Bartter Disease 55
516 PLV003 Pelvic Inflammatory Disease 55
517 c NPH055 Nephrotic Syndrome, Type 1 55
518 P DBT005 Diabetes Insipidus 55
519 c OST163 Osteopetrosis, Autosomal Recessive 3 54
520 P CYS039 Cystic Kidney Disease 54
521 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
522 MMB001 Membranoproliferative Glomerulonephritis 53
523 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 53
524 c JBR041 Joubert Syndrome 3 52
525 c BRD014 Bardet-Biedl Syndrome 2 51
526 GLC004 Galactokinase Deficiency 51
527 P FNC004 Fanconi Syndrome 50
528 P MMB011 Membranous Nephropathy 50
529 c FNC029 Fanconi Anemia, Complementation Group I 50
530 P RNL007 Renal Tubular Acidosis 50
531 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50
532 c ACT078 Acute Porphyria 49
533 RNL078 Renal Dysplasia 49
534 INP001 Inappropriate Adh Syndrome 49
535 URM002 Uremia 49
536 c NPH030 Nephronophthisis 2 49
537 c BRD018 Bardet-Biedl Syndrome 6 48
538 c OST126 Osteopetrosis, Autosomal Recessive 1 48
539 c CTR098 Cataract 1, Multiple Types 47
540 RNL077 Renal Fibrosis 47
541 INT067 Interstitial Nephritis 46
542 ANR004 Anuria 46
543 P HYP347 Hypotonia-Cystinuria Syndrome 46
544 KDN015 Kidney Angiomyolipoma 46
545 c JBR012 Joubert Syndrome 5 46
546 HYP236 Hyperbilirubinemia, Rotor Type 45
547 c JBR015 Joubert Syndrome 6 45
548 c CTR103 Cataract 4, Multiple Types 45
549 c JBR025 Joubert Syndrome 17 45
550 ACT003 Acute Kidney Tubular Necrosis 45
551 MSN001 Mesangial Proliferative Glomerulonephritis 45
552 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 45
553 c BRD016 Bardet-Biedl Syndrome 4 44
554 c NPH031 Nephronophthisis 3 44
555 c CTR096 Cataract 6, Multiple Types 43
556 P MYG005 Myoglobinuria 43
557 c JBR024 Joubert Syndrome 14 43
558 OBS082 Obstructive Nephropathy 43
559 c JBR035 Joubert Syndrome 24 43
560 c NPH053 Nephronophthisis 11 43
561 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
562 c JBR016 Joubert Syndrome 10 43
563 IDP073 Idiopathic Hypercalciuria 43
564 c OST120 Osteopetrosis, Autosomal Recessive 5 42
565 c JBR013 Joubert Syndrome 8 42
566 c JBR014 Joubert Syndrome 9 42
567 MDL009 Medullary Sponge Kidney 42
568 c NPH068 Nephronophthisis 16 41
569 c GLY097 Glycogen Storage Disease Ixb 41
570 c PST041 Posterior Urethral Valves 41
571 c JBR031 Joubert Syndrome 21 41
572 c CTR132 Cataract 3, Multiple Types 40
573 c BRD048 Bardet-Biedl Syndrome 18 40
574 c NPH069 Nephronophthisis 15 40
575 DNS007 Dense Deposit Disease 40
576 GLM044 Glomerular Disease 39
577 IMM001 Immune-Complex Glomerulonephritis 39
578 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 39
579 c CTR118 Cataract 14, Multiple Types 39
580 c CTR183 Cataract 38 39
581 CDQ001 Cauda Equina Syndrome 39
582 c AML057 Amelogenesis Imperfecta, Type Iiia 39
583 THR123 Thrombotic Microangiopathy 38
584 KLL014 Kelley-Seegmiller Syndrome 38
585 c JBR022 Joubert Syndrome 20 38
586 c JBR028 Joubert Syndrome 13 38
587 AMN006 Aminoaciduria 38
588 c FCL026 Focal Segmental Glomerulosclerosis 2 38
589 c DNT021 Dent Disease 2 38
590 URT004 Urethral Syndrome 38
591 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 37
592 c JBR026 Joubert Syndrome 15 37
593 BLD045 Bladder Diverticulum 37
594 c CHR020 Chronic Interstitial Cystitis 37
595 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 36
596 c AML020 Amelogenesis Imperfecta, Type Iv 36
597 c CTR122 Cataract 5, Multiple Types 36
598 c CTR113 Cataract 11, Multiple Types 36
599 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 36
600 c CTR115 Cataract 16, Multiple Types 36
601 c JBR027 Joubert Syndrome 16 36
602 c JBR037 Joubert Syndrome 26 36
603 c CTR174 Cataract 40 36
604 c JBR030 Joubert Syndrome 22 36
605 c JBR042 Joubert Syndrome 23 36
606 c CTR141 Cataract 21, Multiple Types 35
607 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
608 BLD009 Bladder Neck Obstruction 35
609 TBS001 Tabes Dorsalis 35
610 c CTR095 Cataract 8, Multiple Types 35
611 c MLG003 Malignant Renovascular Hypertension 35
612 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 34
613 c CTR145 Cataract 44 34
614 c CTR170 Cataract 30, Multiple Types 34
615 P ADL014 Adult Mesoblastic Nephroma 34
616 LWR018 Lower Urinary Tract Obstruction, Congenital 34
617 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
618 c CTR129 Cataract 31, Multiple Types 34
619 P ACR072 Acrorenal Syndrome 33
620 c ATM045 Autoimmune Glomerulonephritis 33
621 c CTR102 Cataract 2, Multiple Types 33
622 EPT005 Epithelial Predominant Wilms' Tumor 32
623 c NPH086 Nephronophthisis 20 32
624 KDN001 Kidney Cortex Necrosis 32
625 PDN001 Pudendal Neuralgia 31
626 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
627 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 31
628 c SPS036 Spastic Paraplegia 3 31
629 c GLY017 Glycogen Storage Disease Ic 31
630 c CTR097 Cataract 34, Multiple Types 31
631 c JBR045 Joubert Syndrome 33 30
632 c FCL053 Focal Segmental Glomerulosclerosis 8 30
633 KDN006 Kidney Papillary Necrosis 30
634 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 30
635 c PSD093 Pseudohypoaldosteronism, Type Iid 30
636 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 30
637 c INF147 Infantile Nephronophthisis 30
638 RNL021 Renal Tubular Transport Disease 30
639 c FCL055 Focal Segmental Glomerulosclerosis 9 29
640 c AML018 Amelogenesis Imperfecta, Type Ic 29
641 c CTR119 Cataract 32, Multiple Types 29
642 TBL025 Tubulointerstitial Nephritis with Uveitis 29
643 PCM002 Pauci-Immune Glomerulonephritis 29
644 c NPH096 Nephrotic Syndrome, Type 12 28
645 BLD041 Bladder Calculus 28
646 SCN001 Secondary Hyperparathyroidism of Renal Origin 28
647 c CTR166 Cataract 33, Multiple Types 28
648 c CTR121 Cataract 25 27
649 c RNL016 Renal Infectious Disease 27
650 c CTR125 Cataract 7 27
651 c CTR158 Cataract 37 27
652 c NPH076 Nephrotic Syndrome, Type 10 26
653 IMP003 Impaired Renal Function Disease 26
654 c HML035 Hemolytic Uremic Syndrome, Atypical 2 26
655 c CTR111 Cataract 36 26
656 c CTR180 Cataract 22, Multiple Types 26
657 c JBR039 Joubert Syndrome 28 26
658 c JBR043 Joubert Syndrome 32 26
659 FBR085 Fibrillary Glomerulonephritis 25
660 c CHR026 Charcot-Marie-Tooth Disease Type X 25
661 c JBR021 Joubert Syndrome 18 25
662 c JBR040 Joubert Syndrome 30 25
663 HYP481 Hyperbiliverdinemia 25
664 c BRT024 Bartter Syndrome Type 4 25
665 c BRD051 Bardet-Biedl Syndrome 20 25
666 SDH011 Sedoheptulokinase Deficiency 25
667 NPH008 Nephrogenic Adenoma of the Urethra 25
668 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 25
669 c PLY141 Polycystic Kidney Disease 5 24
670 c FRS016 Fraser Syndrome 2 24
671 BLD030 Bladder Tuberculosis 24
672 c NNN029 Noonan Syndrome 11 24
673 c GLY001 Glycogen Storage Disease Ix 24
674 c CTR131 Cataract 17, Multiple Types 24
675 c SNR004 Senior-Loken Syndrome 4 24
676 AXL004 Axial Mesodermal Dysplasia Spectrum 24
677 URC004 Urachal Cancer 24
678 c CTR124 Cataract 10, Multiple Types 24
679 c CTR182 Cataract 23, Multiple Types 24
680 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
681 c CTR157 Cataract 28 23
682 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
683 c JBR038 Joubert Syndrome 27 23
684 c CTR105 Cataract 12, Multiple Types 23
685 NRF010 Neurofaciodigitorenal Syndrome 23
686 FCC002 Faciocardiorenal Syndrome 23
687 c CTR165 Cataract 19, Multiple Types 23
688 c CTR110 Cataract 26, Multiple Types 23
689 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 23
690 c CTR162 Cataract 47 22
691 c TWN010 Townes-Brocks Syndrome 2 22
692 c CTR187 Cataract 48 22
693 c CTR169 Cataract 29 22
694 c HRD156 Hereditary Central Diabetes Insipidus 22
695 c CTR184 Cataract 39, Multiple Types 22
696 c SNR011 Senior-Loken Syndrome 3 22
697 c SBC010 Subacute Glomerulonephritis 21
698 c ACQ034 Acquired Central Diabetes Insipidus 21
699 CLL007 Cellular Congenital Mesoblastic Nephroma 21
700 URM001 Uremic Neuropathy 21
701 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
702 c SRC024 Sarcoidosis 3 20
703 DPL007 Duplication of Urethra 20
704 ESN013 Eosinophilic Cystitis 20
705 c CTR159 Cataract 35 20
706 c PLY176 Polycystic Kidney Disease 4 20
707 GNT182 Genetic Nephrotic Syndrome 20
708 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
709 c CTR144 Cataract 43 20
710 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 20
711 CRM007 Crome Syndrome 20
712 BLT024 Bilateral Renal Aplasia 20
713 c HYP445 Hypomagnesemia 6, Renal 19
714 c CTR160 Cataract 45 19
715 LWR004 Lower Urinary Tract Calculus 19
716 c WLM015 Wilms Tumor 3 19
717 c SYS053 Systemic Lupus Erythematosus 5 19
718 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
719 VLN001 Valinemia 18
720 KDN014 Kidney Leiomyosarcoma 18
721 c CTR178 Cataract 27 18
722 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 18
723 THY105 Thyrocerebroretinal Syndrome 17
724 c CTR128 Cataract 33 16
725 IGG011 Igg4-Related Kidney Disease 16
726 PTN009 Patent Urachus 16
727 c AML056 Amelogenesis Imperfecta, Type Iiib 16
728 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 15
729 c SPS029 Spastic Paraplegia 19 15
730 ACT215 Actg2-Related Disorders 15
731 c RNL117 Renal Tubular Acidosis Iii 15
732 LGH014 Light and Heavy Chain Deposition Disease 15
733 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 13
734 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
735 c MXD037 Mixed Cryoglobulinemia Type Iii 13
736 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
737 c CTR025 Cataract, Total Congenital 13
738 URT019 Urethral Gland Abscess 13
739 BLS005 Blastema Predominant Kidney Wilms' Tumor 13
740 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 12
741 P CNG326 Congenital Primary Megaureter 12
742 c VSC040 Vesicoureteral Reflux 4 12
743 c JBR048 Joubert Syndrome 36 11
744 P BNG003 Benign Hypertensive Renal Disease 9
745 CLS004 Classic Congenital Mesoblastic Nephroma 9
746 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
747 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 9
748 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
749 c CNG348 Congenital Sialidosis Type 2 7
750 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
751 IDP096 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance 6
752 GLC110 Galactose Mutarotase Deficiency 6
753 c CHR572 Charcot-Marie-Tooth Disease Type 7 6
754 MTC002 Metachronous Kidney Wilms' Tumor 5
755 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
756 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
757 CNG583 Congenital Urachal Anomaly 5
758 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
759 RNL020 Renal Pelvis Urothelial Papilloma 4
760 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
761 c CTR008 Cataract Congenital Autosomal Dominant 4
762 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
763 CNG270 Congenital Primary Megaureter, Obstructed Form 4
764 c PRM147 Primary Megaureter, Adult-Onset Form 4
765 CNG580 Congenital Disorder of Glycosylation with Nephropathy As a Major Feature 4
766 CNG331 Congenital Bilateral Megacalycosis 4
767 UNL009 Unilateral Congenital Megacalycosis 4
768 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 4
769 SYS078 Systemic Disease with Glomerulopathy As a Major Feature 4
770 GNT180 Genetic Primary Hypomagnesemia with Normocalciuria 3
771 RRG077 Rare Genetic Cause of Hypertension 3
772 PRM345 Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability 3
773 IDP094 Idiopathic Multidrug-Resistant Nephrotic Syndrome 3
774 NPH112 Nephrotic Syndrome Without Extrarenal Manifestations 3
775 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
776 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
777 CNG585 Congenital Primary Megaureter, Refluxing and Obstructed Form 3
778 NNG004 Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature 2
779 CLL042 Collagen-Related Glomerular Basement Membrane Disease 2
780 P MLN066 Melanoma, Cutaneous Malignant 1 70
781 c MLN043 Melanoma, Cutaneous Malignant 8 35
782 c MLN067 Melanoma, Cutaneous Malignant 2 29
783 c MLN075 Melanoma, Cutaneous Malignant 3 27
784 c MLN055 Melanoma, Cutaneous Malignant 10 24
785 c MLN077 Melanoma, Cutaneous Malignant 9 23
786 c MLN076 Melanoma, Cutaneous Malignant 5 23
787 c MLN042 Melanoma, Cutaneous Malignant 6 22
788 c MLN074 Melanoma, Cutaneous Malignant 4 20
789 c MLN040 Melanoma, Cutaneous Malignant 7 20
790 OBS373 Obsolete: Renal Cell Carcinoma Associated with Neuroblastoma 7
791 VSC044 Visceral Myopathy 51
792 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 55
793 c MTC054 Mitochondrial Dna Depletion Syndrome 7 50
794 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 50
795 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
796 c MTC060 Mitochondrial Dna Depletion Syndrome 9 48
797 c MTC063 Mitochondrial Dna Depletion Syndrome 3 47
798 3MC003 3mc Syndrome 46
799 P MTC010 Mitochondrial Dna Depletion Syndrome 45
800 c MTC058 Mitochondrial Dna Depletion Syndrome 6 44
801 c MTC062 Mitochondrial Dna Depletion Syndrome 2 43
802 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
803 c MTC059 Mitochondrial Dna Depletion Syndrome 5 43
804 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
805 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
806 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
807 c MTC014 Mitochondrial Dna Deletion Syndromes 27
808 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
809 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
810 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
811 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 18
812 c MTC200 Mitochondrial Dna Depletion Syndrome 17 18
813 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 17
814 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
815 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65
816 P SHR029 Short Syndrome 57
817 P NRM002 Normal Pressure Hydrocephalus 56
818 SLR001 Sialuria 50
819 P AMY084 Amyloidosis, Finnish Type 49
820 P SPS133 Spastic Paraplegia 2, X-Linked 48
821 c SHR030 Short Qt Syndrome 48
822 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
823 c FML294 Familial Short Qt Syndrome 43
824 c SHR032 Short Qt Syndrome 2 30
825 c SPS198 Spastic Paraplegia 16, X-Linked 30
826 c SHR031 Short Qt Syndrome 1 29
827 c SHR033 Short Qt Syndrome 3 28
828 c SPS062 Spastic Paraplegia 34, X-Linked 28
829 c FML249 Familial Amyloidosis, Finnish Type 21
830 c HYD071 Hydrocephalus, Normal-Pressure, 1 20
831 BLD018 Bladder Hepatoid Adenocarcinoma 8
832 KRN006 Karandikar Maria Kamble Syndrome 7
833 c FNC027 Fanconi Anemia, Complementation Group a 81
834 RNL114 Renal Cell Carcinoma, Nonpapillary 78
835 P ALG028 Alagille Syndrome 1 73
836 SCK003 Sickle Cell Anemia 72
837 P SRC025 Sarcoidosis 1 70
838 P AMY004 Amyloidosis 70
839 CHL065 Cholangiocarcinoma 67
840 NPH091 Nephrolithiasis, Calcium Oxalate 66
841 P RNL100 Renal Hypodysplasia/aplasia 1 63
842 CYS013 Cystinuria 62
843 c FNC043 Fanconi Anemia, Complementation Group E 62
844 LSC001 Lesch-Nyhan Syndrome 62
845 TKY002 Takayasu Arteritis 61
846 P INT143 Interstitial Cystitis 61
847 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60
848 P THL005 Thalassemia 60
849 c ATS347 Autosomal Dominant Polycystic Kidney Disease 59
850 P PLY014 Polycystic Kidney Disease 59
851 P PLV020 Pelvic Organ Prolapse 59
852 P PLY017 Polyarteritis Nodosa 58
853 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 58
854 P FNC044 Fanconi Anemia, Complementation Group C 58
855 P GLM007 Glomerulonephritis 57
856 P ALP106 Alport Syndrome 1, X-Linked 55
857 P MGL001 Megaloblastic Anemia 55
858 RLP001 Relapsing Polychondritis 54
859 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 54
860 c FNC042 Fanconi Anemia, Complementation Group D2 54
861 c ORF034 Orofaciodigital Syndrome Vi 52
862 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
863 P OLV001 Olivopontocerebellar Atrophy 52
864 c FNC024 Fanconi Anemia, Complementation Group D1 52
865 TRC003 Trichomoniasis 52
866 NPH003 Nephrocalcinosis 51
867 c FNC025 Fanconi Anemia, Complementation Group J 51
868 VTR016 Vater/vacterl Association 51
869 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
870 HPT014 Hepatorenal Syndrome 50
871 c NPH019 Nephronophthisis 1 50
872 c AMY009 Amyloidosis Aa 50
873 P CRY007 Cryoglobulinemia, Familial Mixed 50
874 NPH010 Nephrosclerosis 49
875 RNL011 Renal Osteodystrophy 49
876 c JBR018 Joubert Syndrome 4 49
877 HRT031 Hartnup Disorder 49
878 MYH015 Myh-9 Related Disease 49
879 CKT002 Cakut 49
880 c L2H001 L-2-Hydroxyglutaric Aciduria 49
881 c FNC048 Fanconi Anemia, Complementation Group O 49
882 BLD044 Bladder Disease 48
883 P SLL003 Salla Disease 48
884 c BRD020 Bardet-Biedl Syndrome 8 48
885 IGG001 Iga Glomerulonephritis 48
886 P RNL015 Renal Hypertension 48
887 c FNC046 Fanconi Anemia, Complementation Group P 47
888 P AML002 Amelogenesis Imperfecta 47
889 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
890 c FNC032 Fanconi Anemia, Complementation Group B 47
891 c FNC023 Fanconi Anemia, Complementation Group N 47
892 P PRP056 Porphyria, Acute Hepatic 46
893 c ALP104 Alport Syndrome 3, Autosomal Dominant 46
894 EXS017 Exstrophy of Bladder 46
895 c CNG190 Congenital Disorder of Glycosylation, Type Iib 46
896 c FNC047 Fanconi Anemia, Complementation Group Q 46
897 P PSD003 Pseudohypoaldosteronism 45
898 HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 45
899 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45
900 c BRD013 Bardet-Biedl Syndrome 12 44
901 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
902 CTY001 Cat Eye Syndrome 44
903 c MCK014 Meckel Syndrome, Type 5 44
904 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 44
905 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 44
906 c FNC045 Fanconi Anemia, Complementation Group F 43
907 LPP002 Lipoprotein Glomerulopathy 43
908 c FNC057 Fanconi Anemia, Complementation Group U 43
909 HYP550 Hypomagnesemia 1, Intestinal 43
910 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 42
911 c NPH035 Nephronophthisis 9 42
912 ONC003 Oncogenic Osteomalacia 42
913 BNS003 Binswanger's Disease 42
914 MLT084 Multicystic Dysplastic Kidney 42
915 c FNC030 Fanconi Anemia, Complementation Group G 42
916 MTH077 Methylmalonic Aciduria, Cbla Type 42
917 c FNC058 Fanconi Anemia, Complementation Group R 42
918 BP1002 Bap1 Tumor Predisposition Syndrome 41
919 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 41
920 P XNT004 Xanthinuria 41
921 P FML156 Familial Hyperaldosteronism 41
922 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
923 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 41
924 c CNG029 Congenital Mesoblastic Nephroma 40
925 INF159 Infantile Sialic Acid Storage Disease 40
926 NPH078 Nephrolithiasis, Uric Acid 40
927 c FNC052 Fanconi Anemia, Complementation Group T 40
928 c 2HY001 2-Hydroxyglutaric Aciduria 40
929 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 39
930 c FNC056 Fanconi Anemia, Complementation Group V 39
931 c NPH033 Nephronophthisis 7 39
932 C3G002 C3 Glomerulopathy 39
933 c HYP603 Hyperoxaluria, Primary, Type Iii 39
934 PTT002 Potter's Syndrome 38
935 IDP091 Idiopathic Nephrotic Syndrome 38
936 c NPH067 Nephronophthisis 12 38
937 KDN002 Kidney Rhabdoid Cancer 38
938 MLN011 Malonyl-Coa Decarboxylase Deficiency 37
939 c WLM011 Wilms Tumor 6 37
940 CFH006 Cfhr5 Deficiency 37
941 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 36
942 P CYS007 Cystic Nephroma 36
943 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 36
944 ANT002 Anti-Basement Membrane Glomerulonephritis 36
945 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36
946 c XNT011 Xanthinuria, Type Ii 36
947 c SYS061 Systemic Lupus Erythematosus 16 35
948 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
949 c CNG200 Congenital Disorder of Glycosylation, Type Iq 35
950 P HRD020 Hereditary Renal Cell Carcinoma 35
951 c FCL028 Focal Segmental Glomerulosclerosis 5 35
952 c TWN011 Townes-Brocks Syndrome 1 35
953 c FNC062 Fanconi Anemia, Complementation Group S 34
954 KRN001 Korean Hemorrhagic Fever 34
955 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
956 c VCT004 Vacterl Association with Hydrocephalus 33
957 c PSD090 Pseudohypoaldosteronism, Type Iia 33
958 c NPH047 Nephrotic Syndrome, Type 4 32
959 OLG021 Oligomeganephronia 32
960 HYP193 Hypocomplementemic Urticarial Vasculitis 32
961 RNL012 Renal Tuberculosis 32
962 c HRD142 Hereditary Xanthinuria 32
963 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
964 P RNL115 Renal Tubular Acidosis, Proximal 31
965 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 31
966 NPH001 Nephrogenic Adenoma 31
967 RNL019 Renal Pelvis Transitional Cell Carcinoma 30
968 c GLL040 Galloway-Mowat Syndrome 3 30
969 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 30
970 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
971 c PRP091 Porphyria Cutanea Tarda, Type I 30
972 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 29
973 c MLG004 Malignant Hypertensive Renal Disease 28
974 GLN006 Glandular Cystitis 28
975 RNL005 Renal Wilms' Tumor 28
976 c SPS039 Spastic Paraplegia 5a 28
977 EPD025 Epidermolysis Bullosa with Pyloric Atresia 28
978 P VCT008 Vacterl with Hydrocephalus 28
979 P FML284 Familial Vesicoureteral Reflux 28
980 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 27
981 c MCK035 Meckel Syndrome, Type 10 27
982 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
983 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 26
984 IMM053 Immunotactoid Glomerulopathy 26
985 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 26
986 P RNL123 Renal Agenesis, Bilateral 25
987 c BRN086 Branchiootorenal Syndrome 2 25
988 c MCK026 Meckel Syndrome 12 25
989 c HYP376 Hypouricemia, Renal, 2 25
990 c NPH095 Nephrotic Syndrome, Type 11 25
991 c PSD068 Pseudohypoaldosteronism, Type Iic 25
992 c FNC061 Fanconi Anemia, Complementation Group W 25
993 c D2H003 D-2-Hydroxyglutaric Aciduria 2 25
994 c NPH074 Nephrotic Syndrome, Type 9 24
995 c SNR016 Senior-Loken Syndrome 9 24
996 STN006 Steinfeld Syndrome 24
997 c NPH103 Nephrotic Syndrome, Type 15 24
998 c HML036 Hemolytic Uremic Syndrome, Atypical 6 24
999 c PSD094 Pseudohypoaldosteronism, Type Iib 24
1000 c CHR135 Charcot-Marie-Tooth Disease Type 2a 24
1001 c FCL027 Focal Segmental Glomerulosclerosis 3 23
1002 c SYS038 Systemic Lupus Erythematosus 2 23
1003 PLY179 Polyomavirus-Associated Nephropathy 23
1004 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 23
1005 IDP095 Idiopathic Steroid-Resistant Nephrotic Syndrome 23
1006 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 23
1007 RNL004 Renal Pelvis Adenocarcinoma 23
1008 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1009 NPH006 Nephrogenic Adenofibroma 23
1010 KDN004 Kidney Hemangiopericytoma 22
1011 c GLL042 Galloway-Mowat Syndrome 5 22
1012 c URF002 Urofacial Syndrome 2 22
1013 c NPH106 Nephrotic Syndrome, Type 18 22
1014 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
1015 c FCL082 Focal Segmental Glomerulosclerosis 4 22
1016 c SNR006 Senior-Loken Syndrome 6 22
1017 c NNN034 Noonan Syndrome 12 22
1018 BLT020 Bilateral Multicystic Dysplastic Kidney 21
1019 c BRN138 Branchiootorenal Spectrum Disorder 21
1020 c RNL099 Renal Hypodysplasia/aplasia 2 20
1021 c LDD008 Liddle Syndrome 2 20
1022 NLP003 Nail-Patella-Like Renal Disease 20
1023 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
1024 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
1025 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
1026 c JVN046 Juvenile Polymyositis 19
1027 c PRM150 Primary Localized Amyloidosis 19
1028 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
1029 c AHM002 Ah Amyloidosis 19
1030 PHS019 Phosphohydroxylysinuria 18
1031 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 17
1032 RRC029 Rare Cause of Hypertension 17
1033 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 16
1034 ISL133 Isolated Epispadias 16
1035 c CHR471 Chronic Hepatic Porphyria 16
1036 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 16
1037 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 15
1038 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
1039 RRR010 Rare Renal Tumor 15
1040 SNR014 Senior-Boichis Syndrome 14
1041 MLT112 Multiloculated Renal Cyst 14
1042 APV001 Aapoaiv Amyloidosis 14
1043 P FRS017 Fraser-Like Syndrome 14
1044 GRH002 Graham Boyle Troxell Syndrome 14
1045 P ANT062 Anterior Urethral Valve 13
1046 URC012 Urachal Sinus 13
1047 c PRM222 Primary Polyarteritis Nodosa 13
1048 c INT094 Intermediate Severe Salla Disease 13
1049 c VSC042 Vesicoureteral Reflux 5 12
1050 STR009 Stromal Predominant Kidney Wilms' Tumor 12
1051 c PLV014 Pelvic Organ Prolapse 2 12
1052 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1053 c PRM152 Primary Renal Tubular Acidosis 11
1054 MXD009 Mixed Cell Type Kidney Wilms' Tumor 10
1055 PCM003 Pauci-Immune Glomerulonephritis Without Anca 10
1056 CHL044 Childhood Kidney Angiomyolipoma 10
1057 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1058 c RRP004 Rare Primary Hyperaldosteronism 9
1059 c SCN055 Secondary Polyarteritis Nodosa 9
1060 CNG337 Congenital Renal Artery Stenosis 9
1061 RNL010 Renal Pelvis Inverted Papilloma 8
1062 c MLG055 Malignant Cystic Nephroma 8
1063 c RNR002 Ren-Related Kidney Disease 8
1064 DCT001 Dioctophymiasis 8
1065 RNL106 Renal Dysplasia, Unilateral 8
1066 P JVN036 Juvenile Sialidosis Type 2 7
1067 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 7
1068 HRD003 Hereditary Conventional Renal Cell Carcinoma 7
1069 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1070 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1071 c KDN012 Kidney Carcinoma in Situ 6
1072 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1073 IDP097 Idiopathic Non-Lupus Full-House Nephropathy 6
1074 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
1075 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1076 RRR011 Rare Renal Tubular Disease 5
1077 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 4
1078 c BLT012 Bilateral Renal Agenesis Dominant Type 4
1079 IDP098 Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy 4
1080 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1081 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
1082 URN009 Urinary System Disease 48
1083 VSC006 Vascular Cancer 51
1084 PRT010 Parathyroid Carcinoma 66
1085 GLT007 Glutathione Synthetase Deficiency 46
1086 P NNN008 Noonan Syndrome 1 76
1087 c GLY008 Glycogen Storage Disease Ii 70
1088 P TMP003 Temporal Arteritis 67
1089 c CHR684 Chronic Kidney Disease 66
1090 CHR103 Charge Syndrome 66
1091 GTL001 Gitelman Syndrome 66
1092 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
1093 P CHR071 Charcot-Marie-Tooth Disease 64
1094 P CRN108 Cranioectodermal Dysplasia 1 62
1095 P BCK002 Beckwith-Wiedemann Syndrome 62
1096 c ALP101 Alpha-Thalassemia 62
1097 P PRP029 Porphyria 61
1098 c BRN108 Branchiootic Syndrome 1 61
1099 P KDN017 Kidney Cancer 61
1100 HJD001 Hajdu-Cheney Syndrome 60
1101 DBN001 Dubin-Johnson Syndrome 59
1102 c GLY003 Glycogen Storage Disease Iii 58
1103 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1104 P FCL005 Focal Segmental Glomerulosclerosis 58
1105 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
1106 P SNR003 Senior-Loken Syndrome 1 57
1107 P PLY041 Polymyositis 57
1108 PLY023 Polycystic Liver Disease 57
1109 c AML044 Amelogenesis Imperfecta, Type Ig 56
1110 FRC011 Fructose Intolerance, Hereditary 56
1111 GRN034 Grange Syndrome 55
1112 FRS002 Frasier Syndrome 53
1113 P RNL017 Renal Oncocytoma 53
1114 P HYP210 Hypomagnesemia 2, Renal 51
1115 MCR088 Microscopic Polyangiitis 51
1116 c RBN022 Robinow Syndrome, Autosomal Recessive 1 51
1117 P SMP003 Simpson-Golabi-Behmel Syndrome 50
1118 c XNT010 Xanthinuria, Type I 50
1119 MTH078 Methylmalonic Aciduria, Cblb Type 50
1120 P RBN002 Robinow Syndrome 49
1121 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
1122 MYL003 Myeloid Sarcoma 49
1123 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 49
1124 HMG002 Hemoglobinuria 49
1125 HND004 Hand-Foot-Genital Syndrome 49
1126 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1127 GLT035 Glutaric Acidemia I 48
1128 c RBN018 Robinow Syndrome, Autosomal Dominant 1 48
1129 c HYP794 Hyperoxaluria, Primary, Type I 48
1130 HLX001 Helix Syndrome 47
1131 LMT001 Limited Scleroderma 47
1132 LPD004 Lipoid Nephrosis 47
1133 c FCL025 Focal Segmental Glomerulosclerosis 1 47
1134 c BRT042 Bartter Syndrome, Type 3 46
1135 P HYP733 Hypercalciuria, Absorptive, 2 46
1136 P TRN034 Transverse Myelitis 46
1137 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 45
1138 c BRT050 Bartter Syndrome, Type 2, Antenatal 45
1139 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
1140 c ZLL011 Zellweger Spectrum Disorder 44
1141 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 44
1142 c NPH071 Nephronophthisis 14 44
1143 c NPH032 Nephronophthisis 4 44
1144 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 44
1145 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 43
1146 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
1147 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 43
1148 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
1149 RNL025 Renal Hypoplasia 43
1150 ARC002 Arachnoiditis 42
1151 P HYP761 Hypouricemia, Renal, 1 42
1152 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 42
1153 c ATS082 Autosomal Dominant Robinow Syndrome 41
1154 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 41
1155 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 41
1156 c GLL038 Galloway-Mowat Syndrome 1 41
1157 c NPH102 Nephrotic Syndrome, Type 14 40
1158 SRC002 Sarcomatoid Renal Cell Carcinoma 40
1159 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 40
1160 LGH004 Light Chain Deposition Disease 40
1161 c NPH065 Nephronophthisis 13 40
1162 c NPH072 Nephrotic Syndrome, Type 7 39
1163 CHL010 Childhood Kidney Cell Carcinoma 39
1164 c CNG194 Congenital Disorder of Glycosylation, Type Ig 39
1165 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
1166 P HYP111 Hyperprolinemia 39
1167 c ACT159 Acute Transverse Myelitis 38
1168 RHY001 Rhyns Syndrome 38
1169 c AML017 Amelogenesis Imperfecta, Type Ib 38
1170 c NPH075 Nephronophthisis 18 38
1171 c PSD092 Pseudohypoaldosteronism, Type Iie 38
1172 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1173 GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 37
1174 c AML061 Amelogenesis Imperfecta, Type Ie 36
1175 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
1176 P MDL008 Medullary Cystic Kidney Disease 1 35
1177 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
1178 c AML047 Amelogenesis Imperfecta, Type Ia 34
1179 c HYP302 Hypomagnesemia 4, Renal 34
1180 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 34
1181 c GLY057 Glycogen Storage Disease X 34
1182 c FCL043 Focal Segmental Glomerulosclerosis 6 34
1183 PLY158 Polyglucosan Body Neuropathy, Adult Form 33
1184 c NNN025 Noonan Syndrome 10 33
1185 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 33
1186 c AML050 Amelogenesis Imperfecta, Type if 33
1187 TRL002 Tarlov Cysts 32
1188 c HYP248 Hyperprolinemia, Type I 32
1189 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
1190 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 32
1191 c HYP597 Hyperprolinemia, Type Ii 31
1192 GLT011 Glutamine Deficiency, Congenital 31
1193 c FCL085 Focal Segmental Glomerulosclerosis 7 31
1194 P HRD009 Hereditary Wilms' Tumor 31
1195 KDN016 Kidney Benign Neoplasm 30
1196 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 30
1197 c ORF036 Orofaciodigital Syndrome Xiv 30
1198 RNL018 Renal Pelvis Carcinoma 30
1199 RNL039 Renal Dysplasia-Limb Defects Syndrome 29
1200 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 29
1201 c ORF043 Orofaciodigital Syndrome Ix 29
1202 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28
1203 c MDL021 Medullary Cystic Kidney Disease 2 28
1204 c WLM005 Wilms Tumor 2 28
1205 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
1206 KDN019 Kidney Sarcoma 27
1207 c JVN019 Juvenile Temporal Arteritis 27
1208 c SYS066 Systemic Polyarteritis Nodosa 27
1209 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 27
1210 c GLY023 Glycogen Storage Disease Type 0 27
1211 KHN002 Khan-Khan-Katsanis Syndrome 26
1212 NRS001 Neuroschistosomiasis 26
1213 3HY001 3-Hydroxyisobutyric Aciduria 26
1214 c MCK028 Meckel Syndrome 13 26
1215 URC005 Urachal Cyst 25
1216 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1217 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1218 CLR112 Clear Cell Papillary Renal Cell Carcinoma 25
1219 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 25
1220 c ORF042 Orofaciodigital Syndrome Xi 25
1221 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
1222 c RBN023 Robinow Syndrome, Autosomal Recessive 2 24
1223 c ORF052 Orofaciodigital Syndrome Xviii 24
1224 c SNR015 Senior-Loken Syndrome 8 24
1225 c JBR047 Joubert Syndrome 35 24
1226 THV001 Thauvin-Robinet-Faivre Syndrome 24
1227 ARD001 Aredyld 24
1228 RNL089 Renal Nutcracker Syndrome 23
1229 LGH017 Leigh Syndrome with Nephrotic Syndrome 23
1230 OCL073 Oculoskeletodental Syndrome 23
1231 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
1232 c SNR005 Senior-Loken Syndrome 5 22
1233 c AML048 Amelogenesis Imperfecta, Type Ih 22
1234 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
1235 c VSC025 Vesicoureteral Reflux 3 21
1236 c AML059 Amelogenesis Imperfecta, Type Ij 21
1237 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1238 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
1239 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 20
1240 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1241 c SYS041 Systemic Lupus Erythematosus 9 19
1242 UNL014 Unilateral Multicystic Dysplastic Kidney 19
1243 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 19
1244 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
1245 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
1246 FTL074 Fetal Lower Urinary Tract Obstruction 18
1247 c AML064 Amelogenesis Imperfecta, Type Iiic 18
1248 c WLM017 Wilms Tumor 4 18
1249 c SYS048 Systemic Lupus Erythematosus 8 18
1250 c SYS065 Systemic Lupus Erythematosus 11 17
1251 DYS180 Dyschondrosteosis and Nephritis 17
1252 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
1253 c LDD009 Liddle Syndrome 3 17
1254 c SYS055 Systemic Lupus Erythematosus 12 17
1255 AFB003 Afib Amyloidosis 16
1256 c SYS047 Systemic Lupus Erythematosus 7 16
1257 c HYP809 Hypercalciuria, Absorptive, 1 16
1258 c SYS067 Systemic Lupus Erythematosus 15 15
1259 c RR2001 Ror2-Related Robinow Syndrome 14
1260 c VSC043 Vesicoureteral Reflux 6 14
1261 KDN008 Kidney Pelvis Papillary Carcinoma 14
1262 RNL109 Renal Hypoplasia, Bilateral 14
1263 KDN010 Kidney Osteogenic Sarcoma 14
1264 c ORF006 Orofaciodigital Syndrome 13 13
1265 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
1266 TBL026 Tubulocystic Renal Cell Carcinoma 13
1267 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12
1268 GNR029 Generalized Galactose Epimerase Deficiency 12
1269 DNT019 Daentl Towsend Siegel Syndrome 12
1270 c LTN020 Late-Onset Nephronophthisis 11
1271 RNL107 Renal Dysplasia, Bilateral 10
1272 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
1273 c FML094 Familial Wilms Tumor 2 9
1274 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
1275 SNG013 Single-Organ Polyarteritis Nodosa 8
1276 RNL108 Renal Hypoplasia, Unilateral 8
1277 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1278 c ALP107 Alpha-Thalassemia and Related Diseases 7
1279 c SCN040 Secondary Acute Transverse Myelitis 6
1280 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1281 c BTT015 Beta-Thalassemia and Related Diseases 5
1282 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1283 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
1284 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
1285 c FML358 Familial Cystic Renal Disease 3
1286 INH026 Inherited Renal Cancer-Predisposing Syndrome 3
1287 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
1288 HMT022 Hematological Disorder with Renal Involvement 3
1289 c SYS001 Systemic Lupus Erythematosus 86
1290 VNH007 Von Hippel-Lindau Syndrome 73
1291 c BTT014 Beta-Thalassemia 72
1292 P OST001 Osteopetrosis 71
1293 SMT004 Smith-Lemli-Opitz Syndrome 69
1294 P LVR013 Liver Disease 68
1295 LWC002 Lowe Oculocerebrorenal Syndrome 66
1296 c HRD010 Hereditary Spastic Paraplegia 66
1297 GLC006 Galactosemia 65
1298 P MCH002 Machado-Joseph Disease 63
1299 ELL001 Ellis-Van Creveld Syndrome 62
1300 WLL001 Williams-Beuren Syndrome 62
1301 P DRM010 Dermatomyositis 61
1302 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
1303 P LPS004 Lupus Erythematosus 61
1304 c GLY004 Glycogen Storage Disease V 61
1305 P DNT020 Dent Disease 1 60
1306 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60
1307 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
1308 c VSC019 Vesicoureteral Reflux 1 59
1309 MXD005 Mixed Connective Tissue Disease 59
1310 P FML052 Familial Cold Autoinflammatory Syndrome 59
1311 P INT070 Intestinal Obstruction 58
1312 P NPH005 Nephronophthisis 58
1313 c GLY007 Glycogen Storage Disease Iv 58
1314 APP015 Apparent Mineralocorticoid Excess 58
1315 c FRS014 Fraser Syndrome 1 58
1316 BRG013 Buerger Disease 57
1317 P URF003 Urofacial Syndrome 1 57
1318 CPR004 Coproporphyria, Hereditary 57
1319 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
1320 BLR008 Bilirubin Metabolic Disorder 57
1321 c RBN021 Rubinstein-Taybi Syndrome 1 56
1322 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1323 c INT072 Intestinal Pseudo-Obstruction 56
1324 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 56
1325 CHR177 Chromophobe Renal Cell Carcinoma 56
1326 PPL048 Papillorenal Syndrome 55
1327 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
1328 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55
1329 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1330 HNC001 Henoch-Schoenlein Purpura 54
1331 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 54
1332 CLL002 Collecting Duct Carcinoma 53
1333 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
1334 CLR030 Clear Cell Renal Cell Carcinoma 53
1335 ADN024 Adenine Phosphoribosyltransferase Deficiency 52
1336 c GLY005 Glycogen Storage Disease Vi 51
1337 CYS036 Cystinosis, Nephropathic 51
1338 SCR020 Sacral Defect with Anterior Meningocele 51
1339 c ACT134 Acute Liver Failure 51
1340 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 50
1341 c INF145 Infantile Liver Failure Syndrome 1 50
1342 c MCK032 Meckel Syndrome, Type 3 49
1343 c MGL018 Megaloblastic Anemia 1 48
1344 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 48
1345 c NPH049 Nephrotic Syndrome, Type 2 48
1346 GLC011 Galactose Epimerase Deficiency 48
1347 c HYP534 Hypomagnesemia 3, Renal 48
1348 CMP042 Complement Factor H Deficiency 47
1349 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47
1350 RYN003 Reynolds Syndrome 47
1351 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 47
1352 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
1353 c BRD032 Bardet-Biedl Syndrome 14 46
1354 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 46
1355 PRM237 Primary Hypomagnesemia 46
1356 c FML253 Familial Cold Autoinflammatory Syndrome 3 45
1357 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 45
1358 P BRN006 Branchiootorenal Syndrome 45
1359 c JBR011 Joubert Syndrome 7 45
1360 DNB001 Danubian Endemic Familial Nephropathy 45
1361 c GLY098 Glycogen Storage Disease, Type Ixd 45
1362 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1363 RNL119 Renal Cell Carcinoma, Xp11-Associated 45
1364 c RNL122 Renal Hypodysplasia/aplasia 3 44
1365 c BRD033 Bardet-Biedl Syndrome 13 44
1366 c ORF033 Orofaciodigital Syndrome V 44
1367 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1368 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 43
1369 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 43
1370 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 42
1371 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 42
1372 TRN021 Transaldolase Deficiency 42
1373 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42
1374 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1375 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1376 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 42
1377 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
1378 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
1379 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 42
1380 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 41
1381 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1382 c FML117 Familial Cold Autoinflammatory Syndrome 2 41
1383 P DST107 Distal Renal Tubular Acidosis 41
1384 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1385 P BRN042 Branchiootic Syndrome 41
1386 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 41
1387 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 41
1388 c FML015 Familial Nephrotic Syndrome 41
1389 P HRD086 Hereditary Hypophosphatemic Rickets 40
1390 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 40
1391 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
1392 c BRD021 Bardet-Biedl Syndrome 9 40
1393 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
1394 KDN007 Kidney Clear Cell Sarcoma 40
1395 c GLY016 Glycogen Storage Disease Ib 40
1396 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 40
1397 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
1398 c NNN021 Noonan Syndrome 8 40
1399 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 40
1400 c HYP602 Hyperoxaluria, Primary, Type Ii 39
1401 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
1402 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
1403 c GLY009 Glycogen Storage Disease Xv 39
1404 c NPH077 Nephronophthisis 19 39
1405 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
1406 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 38
1407 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
1408 c CNG379 Congenital Disorder of Glycosylation, Type It 38
1409 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
1410 c GLY044 Glycogen Storage Disease Ixc 37
1411 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1412 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 36
1413 c CRN109 Cranioectodermal Dysplasia 2 36
1414 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36
1415 HYP249 Hyperthyroidism, Nonautoimmune 36
1416 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
1417 TTH004 Tethered Spinal Cord Syndrome 35
1418 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 35
1419 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
1420 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
1421 P BTR001 Botryoid Rhabdomyosarcoma 35
1422 c JVN041 Juvenile Nephronophthisis 35
1423 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
1424 c OST106 Osteopetrosis, Autosomal Recessive 8 34
1425 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 34
1426 P GLM015 Glomerulopathy with Fibronectin Deposits 2 34
1427 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34
1428 c SPS021 Spastic Paraplegia 10 33
1429 c LVR030 Liver Failure, Infantile, Transient 33
1430 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 33
1431 c OST125 Osteopetrosis, Autosomal Dominant 1 33
1432 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1433 PRT094 Protoporphyria, Erythropoietic, X-Linked 32
1434 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 32
1435 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
1436 c SPS013 Spastic Paraplegia 8 32
1437 FML029 Familial Renal Papillary Carcinoma 31
1438 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1439 c GLY043 Glycogen Storage Disease Xii 31
1440 c ATS015 Autosomal Dominant Alport Syndrome 31
1441 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
1442 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
1443 c ADL027 Adult Dermatomyositis 30
1444 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
1445 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
1446 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1447 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1448 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 30
1449 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
1450 c SPS025 Spastic Paraplegia 15 30
1451 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
1452 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 30
1453 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 29
1454 c HYP708 Hyperaldosteronism, Familial, Type Iv 29
1455 c SPS091 Spastic Paraplegia 4 29
1456 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29
1457 IDP085 Idiopathic Infantile Hypercalcemia 29
1458 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 29
1459 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 28
1460 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 28
1461 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1462 FRC005 Fructosuria, Essential 28
1463 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
1464 CTN019 Cutaneous Polyarteritis Nodosa 28
1465 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 27
1466 c INF138 Infantile Liver Failure Syndrome 2 27
1467 VNT030 Ventriculomegaly with Cystic Kidney Disease 27
1468 P SPS012 Spastic Paraplegia 3a 26
1469 c HRD186 Hereditary Spastic Paraplegia 51 26
1470 c HRD219 Hereditary Distal Renal Tubular Acidosis 26
1471 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1472 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
1473 c GLY093 Glycogen Storage Disease Ixa 26
1474 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 26
1475 c SPS041 Spastic Paraplegia 6 25
1476 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
1477 c GLY059 Glycogen Storage Disease Xiii 25
1478 c NPH073 Nephrotic Syndrome, Type 8 25
1479 c BRN128 Branchiootic Syndrome 3 25
1480 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
1481 c SPS027 Spastic Paraplegia 17 25
1482 RNL009 Renal Pelvis Squamous Cell Carcinoma 25
1483 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1484 c HRD188 Hereditary Spastic Paraplegia 72 24
1485 c VSC046 Vesicoureteral Reflux 8 23
1486 c FRS015 Fraser Syndrome 3 23
1487 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1488 c GLY006 Glycogen Storage Disease Viii 23
1489 c MCK020 Meckel Syndrome, Type 11 23
1490 c VSC020 Vesicoureteral Reflux 2 22
1491 c SPS042 Spastic Paraplegia 9 22
1492 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1493 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 22
1494 c HRD210 Hereditary Spastic Paraplegia 23 21
1495 c SPS038 Spastic Paraplegia 39 21
1496 c SPS023 Spastic Paraplegia 13 20
1497 c FML028 Familial Renal Oncocytoma 20
1498 c NPH093 Nephrotic Syndrome, Type 13 20
1499 c BRN073 Branchiootic Syndrome 2 20
1500 c SPS022 Spastic Paraplegia 12 19
1501 BRK013 Birk-Landau-Perez Syndrome 19
1502 c SPS028 Spastic Paraplegia 18 19
1503 c SPS034 Spastic Paraplegia 26 18
1504 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
1505 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 18
1506 c MCH013 Machado-Joseph Disease Type 3 17
1507 c MCH012 Machado-Joseph Disease Type 1 17
1508 c MCH014 Machado-Joseph Disease Type 2 17
1509 c RNL034 Renal Cell Carcinoma 4 17
1510 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
1511 c SPS032 Spastic Paraplegia 24 17
1512 c INF190 Infantile Liver Failure Syndrome 3 16
1513 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 16
1514 c SYS052 Systemic Lupus Erythematosus 13 16
1515 APM002 Aapoai Amyloidosis 16
1516 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 15
1517 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 15
1518 APM001 Aapoaii Amyloidosis 15
1519 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1520 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 15
1521 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
1522 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 15
1523 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 15
1524 c OLV005 Olivopontocerebellar Atrophy V 15
1525 c SPS035 Spastic Paraplegia 29 15
1526 c SPS024 Spastic Paraplegia 14 15
1527 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 14
1528 c SPS161 Spastic Paraplegia 32 14
1529 c SPS033 Spastic Paraplegia 25 13
1530 c SPS165 Spastic Paraplegia 47 13
1531 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 13
1532 c SPS026 Spastic Paraplegia 16 13
1533 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1534 c SPS230 Spastic Paraplegia Type 49 12
1535 c CHR571 Charcot-Marie-Tooth Disease Type 5 11
1536 RNL032 Renal Caliceal Diverticuli Deafness 10
1537 c SPS040 Spastic Paraplegia 5b 9
1538 c RNL048 Renal Tubular Acidosis, Distal, Type 3 9
1539 P RBN007 Rubinstein Taybi Like Syndrome 8
1540 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
1541 RNL065 Renal Cell Carcinoma, Papillary, 1 73
1542 FBR012 Fabry Disease 71
1543 WLS001 Wilson Disease 70
1544 BHC003 Behcet Syndrome 70
1545 P ALP004 Alport Syndrome 68
1546 P PSD087 Pseudoxanthoma Elasticum 67
1547 FCT007 Factor Vii Deficiency 66
1548 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
1549 P TRN020 Turner Syndrome 65
1550 GRN037 Granulomatosis with Polyangiitis 64
1551 PLL001 Pallister-Hall Syndrome 64
1552 DGR001 Digeorge Syndrome 63
1553 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
1554 P NPH012 Nephrotic Syndrome 63
1555 c SCL052 Scleroderma, Familial Progressive 62
1556 ALS001 Alstrom Syndrome 62
1557 BRT002 Birt-Hogg-Dube Syndrome 62
1558 c HYP731 Hyperaldosteronism, Familial, Type I 60
1559 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60
1560 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 59
1561 P LDD007 Liddle Syndrome 1 59
1562 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 58
1563 AMY082 Amyloidosis, Familial Visceral 57
1564 DNY001 Denys-Drash Syndrome 57
1565 FNC009 Fanconi-Bickel Syndrome 56
1566 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 55
1567 GDP001 Goodpasture Syndrome 55
1568 c OST131 Osteopetrosis, Autosomal Dominant 2 54
1569 CNN011 Cenani-Lenz Syndactyly Syndrome 54
1570 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 53
1571 PRS055 Pierson Syndrome 52
1572 P HML001 Hemolytic-Uremic Syndrome 52
1573 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 51
1574 P GNT009 Giant Axonal Neuropathy 51
1575 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
1576 c ORF040 Orofaciodigital Syndrome Viii 50
1577 PTS001 Patau Syndrome 49
1578 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 48
1579 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 48
1580 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 48
1581 c CNG389 Congenital Disorder of Glycosylation, Type Iim 46
1582 ARM010 Arima Syndrome 46
1583 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 46
1584 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 45
1585 FSH001 Fish-Eye Disease 45
1586 c MCK012 Meckel Syndrome, Type 6 45
1587 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 45
1588 c HRD039 Hereditary Amyloidosis 45
1589 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 44
1590 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
1591 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
1592 c CNG414 Congenital Disorder of Glycosylation, Type Iil 43
1593 c VNM003 Van Maldergem Syndrome 1 42
1594 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 42
1595 c BRD044 Bardet-Biedl Syndrome 17 42
1596 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
1597 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
1598 c TYR011 Tyrosinemia, Type Iii 42
1599 c BRN131 Branchiootorenal Syndrome 1 42
1600 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
1601 c NNN009 Noonan Syndrome 2 40
1602 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 39
1603 c CNG002 Congenital Bile Acid Synthesis Defect 39
1604 c NPH054 Nephrotic Syndrome, Type 3 39
1605 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1606 c SYS043 Systemic Lupus Erythematosus 1 38
1607 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 37
1608 VRH001 Verheij Syndrome 36
1609 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 36
1610 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
1611 c RNL113 Renal Failure, Progressive, with Hypertension 34
1612 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 33
1613 c NNN024 Noonan Syndrome 9 32
1614 c HYP438 Hyperaldosteronism, Familial, Type Iii 32
1615 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 32
1616 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 31
1617 c FML324 Familial Porphyria Cutanea Tarda 30
1618 MCP039 Mucoepithelial Dysplasia, Hereditary 30
1619 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25
1620 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
1621 c ORF051 Orofaciodigital Syndrome Xvii 24
1622 c ORF039 Orofaciodigital Syndrome Vii 22
1623 c NPH108 Nephrotic Syndrome, Type 20 22
1624 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 22
1625 c SYS069 Systemic Lupus Erythematosus 6 21
1626 c SYS040 Systemic Lupus Erythematosus 10 21
1627 c SYS046 Systemic Lupus Erythematosus 3 21
1628 c NPH107 Nephrotic Syndrome, Type 19 21
1629 P DSR081 Disorder of Bile Acid Synthesis 21
1630 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 20
1631 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 19
1632 c SYS051 Systemic Lupus Erythematosus 4 19
1633 c NPH111 Nephrotic Syndrome, Type 21 19
1634 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
1635 c SYS045 Systemic Lupus Erythematosus 14 15
1636 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 13
1637 c GNT045 Giant Axonal Neuropathy 2 12
1638 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 11
1639 c CHR701 Charcot-Marie-Tooth Disease Type 1g 9
1640 MYL069 Myeloma, Multiple 85
1641 P TBR001 Tuberous Sclerosis 70
1642 P SYS005 Systemic Scleroderma 69
1643 P BRD002 Bardet-Biedl Syndrome 66
1644 c RHB024 Rhabdomyosarcoma 2 65
1645 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65
1646 c WLM013 Wilms Tumor 1 65
1647 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 64
1648 RHB001 Rhabdoid Cancer 63
1649 P RHB003 Rhabdomyosarcoma 62
1650 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
1651 c BRD010 Bardet-Biedl Syndrome 1 61
1652 NLP001 Nail-Patella Syndrome 60
1653 PRL032 Perlman Syndrome 58
1654 PRN038 Prune Belly Syndrome 55
1655 c BRD011 Bardet-Biedl Syndrome 10 54
1656 c ALM001 Al Amyloidosis 50
1657 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1658 c BRD012 Bardet-Biedl Syndrome 11 50
1659 GLC106 Glucocorticoid Resistance, Generalized 48
1660 c JBR004 Joubert Syndrome 2 47
1661 c MCK033 Meckel Syndrome, Type 4 46
1662 c BRD047 Bardet-Biedl Syndrome 16 44
1663 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 44
1664 c CNG201 Congenital Disorder of Glycosylation, Type Iij 44
1665 FMR004 Fumarase Deficiency 41
1666 c MCK034 Meckel Syndrome, Type 8 41
1667 BTR002 Beta-Ureidopropionase Deficiency 41
1668 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
1669 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 40
1670 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 39
1671 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1672 c RBN008 Rubinstein-Taybi Syndrome 2 33
1673 c BRD050 Bardet-Biedl Syndrome 21 28
1674 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 28
1675 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
1676 c NPH105 Nephrotic Syndrome, Type 17 24
1677 c NPH070 Nephrotic Syndrome, Type 6 24
1678 c GLL047 Galloway-Mowat Syndrome 8 22
1679 c ORF045 Orofaciodigital Syndrome Xv 22
1680 c NPH104 Nephrotic Syndrome, Type 16 20
1681 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
1682 OCL043 Oculorenocerebellar Syndrome 20
1683 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
1684 c CLC009 Clcn7-Related Osteopetrosis 15
1685 P LYN001 Lynch Syndrome 77
1686 c MCP050 Mucopolysaccharidosis, Type Ii 71
1687 c MCP052 Mucopolysaccharidosis, Type Vi 67
1688 P PRP003 Porphyria Cutanea Tarda 67
1689 c TYR012 Tyrosinemia, Type I 67
1690 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
1691 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66
1692 c MCP001 Mucopolysaccharidosis Iii 65
1693 P MCK013 Meckel Syndrome, Type 1 65
1694 P PLR004 Pleuropulmonary Blastoma 65
1695 P MCP040 Mucopolysaccharidosis-Plus Syndrome 64
1696 PRP083 Porphyria, Acute Intermittent 63
1697 MCK007 Muckle-Wells Syndrome 63
1698 c MCP049 Mucopolysaccharidosis, Type Vii 63
1699 NRM019 Neuraminidase Deficiency 62
1700 c WLM018 Wilms Tumor 5 62
1701 c LCL006 Localized Scleroderma 62
1702 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1703 CHL028 Childhood Type Dermatomyositis 60
1704 c MCP004 Mucopolysaccharidosis Iv 58
1705 c LYN004 Lynch Syndrome I 58
1706 P TYR004 Tyrosinemia 58
1707 RNL024 Renal Glucosuria 57
1708 c PRX059 Peroxisome Biogenesis Disorder 1a 57
1709 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
1710 P TWN003 Townes-Brocks Syndrome 55
1711 c MCP043 Mucopolysaccharidosis, Type Iiia 54
1712 P RNL028 Renal Tubular Dysgenesis 50
1713 c MCP047 Mucopolysaccharidosis, Type Iva 49
1714 c MCP044 Mucopolysaccharidosis, Type Iiib 48
1715 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
1716 c TYR013 Tyrosinemia, Type Ii 46
1717 c MCK031 Meckel Syndrome, Type 2 46
1718 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
1719 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 44
1720 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
1721 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
1722 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1723 P GLL032 Galloway-Mowat Syndrome 42
1724 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
1725 GRC001 Gracile Syndrome 40
1726 c ATS018 Autosomal Recessive Alport Syndrome 40
1727 c MCP045 Mucopolysaccharidosis, Type Iiic 40
1728 c NNN012 Noonan Syndrome 5 39
1729 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1730 c MCP051 Mucopolysaccharidosis, Type Ix 39
1731 c MCP048 Mucopolysaccharidosis, Type Ivb 38
1732 c BRD045 Bardet-Biedl Syndrome 19 38
1733 c BRD017 Bardet-Biedl Syndrome 5 37
1734 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
1735 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1736 c MCP046 Mucopolysaccharidosis, Type Iiid 36
1737 STR094 Stromme Syndrome 36
1738 c NNN013 Noonan Syndrome 6 35
1739 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1740 c PRX063 Peroxisome Biogenesis Disorder 2a 33
1741 c ORF038 Orofaciodigital Syndrome Iii 33
1742 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1743 c XLN231 X-Linked Alport Syndrome 33
1744 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1745 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1746 c PSD104 Pseudohypoparathyroidism, Type Ii 32
1747 c PRX057 Peroxisome Biogenesis Disorder 4a 31
1748 HYP648 Hypertension and Brachydactyly Syndrome 31
1749 c PRX051 Peroxisome Biogenesis Disorder 6a 30
1750 c PRX050 Peroxisome Biogenesis Disorder 9b 30
1751 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1752 c PRX043 Peroxisome Biogenesis Disorder 6b 30
1753 c PRX054 Peroxisome Biogenesis Disorder 12a 29
1754 c PRX058 Peroxisome Biogenesis Disorder 4b 28
1755 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1756 c PRX048 Peroxisome Biogenesis Disorder 10a 28
1757 c CRN111 Cranioectodermal Dysplasia 4 27
1758 c PRX046 Peroxisome Biogenesis Disorder 7a 27
1759 c CRN110 Cranioectodermal Dysplasia 3 27
1760 c PRX047 Peroxisome Biogenesis Disorder 5b 27
1761 c PRX066 Peroxisome Biogenesis Disorder 3b 27
1762 c PRX062 Peroxisome Biogenesis Disorder 8b 25
1763 c PRX056 Peroxisome Biogenesis Disorder 11b 25
1764 c SPS092 Spastic Paraplegia 11 25
1765 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1766 c GLL045 Galloway-Mowat Syndrome 6 25
1767 c JBR036 Joubert Syndrome 25 25
1768 c GLL046 Galloway-Mowat Syndrome 7 25
1769 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1770 P PRX064 Peroxisome Biogenesis Disorder 2b 24
1771 c PRX068 Peroxisome Biogenesis Disorder 7b 24
1772 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1773 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1774 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1775 c PLR018 Pleuropulmonary Blastoma Type 1 9
1776 c PLR020 Pleuropulmonary Blastoma Type 3 8
1777 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 8
1778 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 8
1779 c PLR019 Pleuropulmonary Blastoma Type 2 7
1780 P FML018 Familial Mediterranean Fever 72
1781 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
1782 P ERL057 Early Infantile Epileptic Encephalopathy 62
1783 c ORF037 Orofaciodigital Syndrome I 61
1784 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61
1785 P PSD015 Pseudohypoparathyroidism 56
1786 c GLY011 Glycogen Storage Disease Vii 55
1787 SCH016 Schimke Immunoosseous Dysplasia 53
1788 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 52
1789 MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 52
1790 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 50
1791 c NNN010 Noonan Syndrome 3 50
1792 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 49
1793 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 49
1794 c BRD015 Bardet-Biedl Syndrome 3 47
1795 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 47
1796 c ORF035 Orofaciodigital Syndrome Iv 46
1797 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 45
1798 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 45
1799 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 44
1800 c OST136 Osteopetrosis, Autosomal Recessive 7 43
1801 c SRC023 Sarcoidosis 2 43
1802 c MCK030 Meckel Syndrome, Type 7 43
1803 c CNG498 Congenital Disorder of Glycosylation, Type Iin 43
1804 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 42
1805 c OST134 Osteopetrosis, Autosomal Recessive 6 42
1806 c OST129 Osteopetrosis, Autosomal Recessive 2 42
1807 c BRD019 Bardet-Biedl Syndrome 7 42
1808 c OST137 Osteopetrosis, Autosomal Recessive 4 42
1809 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 41
1810 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 40
1811 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 39
1812 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 39
1813 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 39
1814 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 39
1815 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 37
1816 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 36
1817 c ALG016 Alagille Syndrome 2 36
1818 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 36
1819 c CNG196 Congenital Disorder of Glycosylation, Type Ic 35
1820 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
1821 c CNG192 Congenital Disorder of Glycosylation, Type Ik 35
1822 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 35
1823 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 35
1824 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33
1825 c CNG198 Congenital Disorder of Glycosylation, Type Il 33
1826 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 32
1827 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 32
1828 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
1829 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 30
1830 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 29
1831 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 29
1832 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 29
1833 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 28
1834 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
1835 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 28
1836 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 28
1837 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
1838 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 27
1839 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 27
1840 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 27
1841 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 27
1842 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 27
1843 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 27
1844 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 27
1845 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 26
1846 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 26
1847 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 26
1848 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
1849 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 26
1850 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 26
1851 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 26
1852 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 26
1853 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 26
1854 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 26
1855 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 26
1856 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 26
1857 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 25
1858 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 25
1859 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 25
1860 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 25
1861 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 25
1862 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 25
1863 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 25
1864 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
1865 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 24
1866 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
1867 c EPL246 Epileptic Encephalopathy, Early Infantile, 80 24
1868 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 24
1869 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 24
1870 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
1871 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 24
1872 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
1873 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
1874 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
1875 c EPL243 Epileptic Encephalopathy, Early Infantile, 77 23
1876 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 23
1877 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 23
1878 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 23
1879 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
1880 c EPL244 Epileptic Encephalopathy, Early Infantile, 78 22
1881 MSC089 Mosaic Monosomy X 21
1882 c PSD047 Pseudo-Turner Syndrome 21
1883 c EPL245 Epileptic Encephalopathy, Early Infantile, 79 21
1884 c EPL248 Epileptic Encephalopathy, Early Infantile, 81 20
1885 c EPL250 Epileptic Encephalopathy, Early Infantile, 83 19
1886 c EPL249 Epileptic Encephalopathy, Early Infantile, 82 17
1887 c ARX003 Arx-Related Epileptic Encephalopathy 6
1888 P NRF023 Neurofibromatosis, Type Ii 76
1889 c NRF024 Neurofibromatosis, Type I 71
1890 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
1891 P ORF001 Orofaciodigital Syndrome 48
1892 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 36
1893 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1894 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1895 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1896 c PSD108 Pseudohypoparathyroidism, Type Ia 66
1897 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1898 c CNG203 Congenital Disorder of Glycosylation, Type Iii 45
1899 c NNN020 Noonan Syndrome 7 37
1900 c ORF041 Orofaciodigital Syndrome X 26
1901 c ORF046 Orofaciodigital Syndrome Xvi 25
1902 c ORF005 Orofaciodigital Syndrome 12 13
1903 c CNG411 Congenital Disorder of Glycosylation, Type in 68
1904 PSD014 Pseudopseudohypoparathyroidism 56
1905 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1906 c CNG412 Congenital Disorder of Glycosylation, Type Ii 54
1907 c CNG206 Congenital Disorder of Glycosylation, Type Ie 47
1908 c CNG185 Congenital Disorder of Glycosylation, Type Iig 42
1909 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
1910 P DSR041 Disorder of Multiple Glycosylation 8
1911 c CNG208 Congenital Disorder of Glycosylation, Type Iic 48
1912 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1913 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
1914 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1915 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1916 c CNG388 Congenital Disorder of Glycosylation, Type Iw 29
1917 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50



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