Nephrological Diseases Category (1899 diseases)


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

# Family MCID Name MIFTS
1 P BLD134 Bladder Cancer 79
2 P MPL001 Maple Syrup Urine Disease 69
3 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 41
4 NRG002 Neurogenic Bladder 55
5 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
6 c MCR113 Microvascular Complications of Diabetes 3 52
7 P IGN003 Iga Nephropathy 1 49
8 BLD131 Bladder Urothelial Carcinoma 62
9 RNL051 Renal Cysts and Diabetes Syndrome 55
10 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52
11 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
12 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 29
13 c WLM018 Wilms Tumor 5 61
14 P HRD009 Hereditary Wilms' Tumor 29
15 c WLM005 Wilms Tumor 2 28
16 P HYP658 Hypoplastic Amelogenesis Imperfecta 25
17 c WLM017 Wilms Tumor 4 19
18 c WLM015 Wilms Tumor 3 18
19 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 18
20 BLD169 Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut 17
21 c FML094 Familial Wilms Tumor 2 9
22 BLD029 Bladder Dome Cancer 9
23 SML031 Small Cell Carcinoma of the Bladder 46
24 CNG116 Congenital Nephrotic Syndrome Finnish Type 18
25 SPR001 Superficial Urinary Bladder Cancer 22
26 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 45
27 LWC001 Low Compliance Bladder 43
28 c HYP302 Hypomagnesemia 4, Renal 36
29 BLD049 Bladder Transitional Cell Papilloma 34
30 NPH002 Nephrogenic Adenoma of Urinary Bladder 23
31 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 20
32 BLD026 Bladder Trigone Cancer 6
33 c HYP376 Hypouricemia, Renal, 2 27
34 BLD047 Bladder Squamous Cell Carcinoma 31
35 c BLD008 Bladder Carcinoma in Situ 28
36 P RNL017 Renal Oncocytoma 53
37 HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 44
38 RNL018 Renal Pelvis Carcinoma 30
39 URN022 Urinary Tract Infections, Recurrent 27
40 c HYP445 Hypomagnesemia 6, Renal 22
41 c FCL082 Focal Segmental Glomerulosclerosis 4 22
42 URN005 Urinary Bladder Villous Adenoma 21
43 RNL005 Renal Wilms' Tumor 21
44 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19
45 JWT001 Jewett-Marshall Bladder Cancer 6
46 BNR003 Ben Ari Shuper Mimouni Syndrome 5
47 URN003 Urinary Schistosomiasis 46
48 c MCR112 Microvascular Complications of Diabetes 2 41
49 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 41
50 BLD025 Bladder Sarcoma 29
51 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
52 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
53 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
54 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
55 c VSC019 Vesicoureteral Reflux 1 57
56 c BRN131 Branchiootorenal Syndrome 1 44
57 P FML284 Familial Vesicoureteral Reflux 27
58 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 27
59 c BKV001 Bk-Virus Nephropathy 24
60 URN004 Urinary Bladder Inverted Papilloma 20
61 BLD046 Bladder Papillary Transitional Cell Neoplasm 20
62 BLD003 Bladder Lateral Wall Cancer 19
63 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
64 c VSC043 Vesicoureteral Reflux 6 14
65 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 13
66 c VSC042 Vesicoureteral Reflux 5 12
67 c VSC040 Vesicoureteral Reflux 4 12
68 c VSC041 Vesicoureteral Reflux 7 12
69 BLD027 Bladder Neck Cancer 10
70 c URN006 Urinary Bladder Posterior Wall Cancer 5
71 P URN007 Urinary Bladder Anterior Wall Cancer 5
72 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
73 c MCR120 Microvascular Complications of Diabetes 7 47
74 DCR008 Dicarboxylic Aminoaciduria 43
75 c MCR133 Microvascular Complications of Diabetes 4 41
76 c MCR130 Microvascular Complications of Diabetes 6 41
77 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 35
78 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 26
79 BLD023 Bladder Leiomyoma 21
80 c NPH111 Nephrotic Syndrome, Type 21 20
81 CYS010 Cystinosis 59
82 P RNL015 Renal Hypertension 47
83 CYS045 Cystinosis, Adult Nonnephropathic 31
84 NPH001 Nephrogenic Adenoma 30
85 RNL019 Renal Pelvis Transitional Cell Carcinoma 28
86 BLD028 Bladder Lymphoma 27
87 RNL008 Renal Artery Atheroma 24
88 c RNL099 Renal Hypodysplasia/aplasia 2 20
89 BLD065 Blue Diaper Syndrome 20
90 RDL030 Radial-Renal Syndrome 18
91 c RNL117 Renal Tubular Acidosis Iii 16
92 BRC111 Brachymesomelia-Renal Syndrome 15
93 P BNG003 Benign Hypertensive Renal Disease 9
94 BLD022 Bladder Flat Intraepithelial Lesion 6
95 c MCR129 Microvascular Complications of Diabetes 1 66
96 NPH018 Nephrogenic Systemic Fibrosis 50
97 NPH010 Nephrosclerosis 50
98 IMN001 Iminoglycinuria 45
99 P FNC034 Fanconi Renotubular Syndrome 2 40
100 c FNC026 Fanconi Renotubular Syndrome 1 39
101 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 24
102 c IGN004 Iga Nephropathy 3 23
103 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
104 c FNC049 Fanconi Renotubular Syndrome 3 19
105 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 19
106 c FNC066 Fanconi Renotubular Syndrome 5 10
107 c PRG011 Progressive Myoclonus Epilepsy 42
108 HYP348 Hyperglycinuria 41
109 P MYC026 Myoclonus Epilepsy 35
110 PNT006 Pentosuria 33
111 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33
112 c BRN086 Branchiootorenal Syndrome 2 32
113 c PRG140 Progressive Myoclonus Epilepsy 4 28
114 ACR102 Acrorenal-Mandibular Syndrome 28
115 c PRG147 Progressive Myoclonus Epilepsy 8 26
116 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 23
117 c PRG142 Progressive Myoclonus Epilepsy 3 21
118 BTM003 Beta-Aminoisobutyric Aciduria 20
119 c PRG146 Progressive Myoclonus Epilepsy 9 19
120 c PRG145 Progressive Myoclonus Epilepsy 6 19
121 c PRG141 Progressive Myoclonus Epilepsy 10 17
122 c PRG148 Progressive Myoclonus Epilepsy 1a 17
123 c PRG143 Progressive Myoclonus Epilepsy 7 16
124 c PRG144 Progressive Myoclonus Epilepsy 1b 12
125 c RNR002 Ren-Related Kidney Disease 8
126 P GLL020 Gallbladder Disease 57
127 URN010 Urinary Tract Obstruction 55
128 c GLL024 Gallbladder Disease 1 53
129 HYP114 Hypertensive Nephropathy 35
130 RNL013 Renal Adenoma 31
131 SCN001 Secondary Hyperparathyroidism of Renal Origin 27
132 c HRD219 Hereditary Distal Renal Tubular Acidosis 27
133 PLY179 Polyomavirus-Associated Nephropathy 24
134 WBB001 Webb-Dattani Syndrome 23
135 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 23
136 c URF002 Urofacial Syndrome 2 22
137 NPH008 Nephrogenic Adenoma of the Urethra 22
138 EPT005 Epithelial Predominant Wilms' Tumor 21
139 c IGN002 Iga Nephropathy 2 20
140 DBL008 Double Uterus-Hemivagina-Renal Agenesis 17
141 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 17
142 ERY007 Erythropoietin Polycythemia 16
143 c GLL027 Gallbladder Disease 4 15
144 HST019 Histidinuria Due to a Renal Tubular Defect 15
145 BLR029 Biliary Malformation with Renal Tubular Insufficiency 14
146 BLS005 Blastema Predominant Kidney Wilms' Tumor 13
147 PLY043 Polyomavirus Allograft Nephropathy 13
148 NNN004 Non-Invasive Bladder Urothelial Carcinoma 12
149 c GLL026 Gallbladder Disease 3 12
150 BTM002 Beta-Amino Acids, Renal Transport of 12
151 STR009 Stromal Predominant Kidney Wilms' Tumor 12
152 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
153 c GLL025 Gallbladder Disease 2 12
154 MXD009 Mixed Cell Type Kidney Wilms' Tumor 11
155 NPH025 Nephrotic Syndrome Ocular Anomalies 8
156 GRN023 Green Sandford Davison Syndrome 7
157 STN004 Stone in Bladder Diverticulum 6
158 HST012 Histidinuria Renal Tubular Defect 6
159 INB002 Inborn Renal Aminoaciduria 6
160 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 5
161 BLD011 Bladder Verrucous Squamous Cell Carcinoma 5
162 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
163 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 5
164 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
165 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 5
166 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 5
167 NNT002 Neonatal Urinary Tract Infectious Disease 5
168 RDR001 Radio Renal Syndrome 4
169 NNR001 Non-Renal Secondary Hyperparathyroidism 4
170 GNT076 Genetic Renal or Urinary Tract Malformation 2
171 GNT143 Genetic Non-Syndromic Renal or Urinary Tract Malformation 2
172 P MCR115 Microvascular Complications of Diabetes 5 66
173 HST006 Histidinemia 48
174 c JBR004 Joubert Syndrome 2 48
175 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 44
176 URT031 Ureteral Disease 41
177 RTR011 Retroperitoneal Fibrosis 40
178 HYD030 Hydroxykynureninuria 27
179 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
180 P C1Q005 C1q Nephropathy 22
181 BLD040 Bladder Benign Neoplasm 19
182 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 18
183 MPL011 Maple Syrup Urine Disease, Mild Variant 18
184 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 16
185 ACT006 Acute Gonococcal Cystitis 10
186 c LTH007 Lethal Congenital Contracture Syndrome 1 53
187 c JBR011 Joubert Syndrome 7 46
188 KDN015 Kidney Angiomyolipoma 45
189 CYS019 Cystathioninuria 45
190 VCT001 Vacterl Association 43
191 P LTH003 Lethal Congenital Contracture Syndrome 40
192 PYR004 Pyuria 40
193 GLT014 Glutathionuria 39
194 CLC011 Cloacal Exstrophy 37
195 c WLM011 Wilms Tumor 6 37
196 c LTH008 Lethal Congenital Contracture Syndrome 2 35
197 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 35
198 c LTH026 Lethal Congenital Contracture Syndrome 4 34
199 c CRN111 Cranioectodermal Dysplasia 4 31
200 PLV001 Pelvic Lipomatosis 30
201 c MDL021 Medullary Cystic Kidney Disease 2 27
202 c CRN110 Cranioectodermal Dysplasia 3 27
203 c LTH047 Lethal Congenital Contracture Syndrome 3 27
204 c VSC020 Vesicoureteral Reflux 2 25
205 c LTH030 Lethal Congenital Contracture Syndrome 8 24
206 c LTH039 Lethal Congenital Contracture Syndrome 11 24
207 BRN121 Branchiootorenal/branchiootic Syndrome 24
208 c LTH027 Lethal Congenital Contracture Syndrome 5 24
209 c VSC046 Vesicoureteral Reflux 8 23
210 c LTH032 Lethal Congenital Contracture Syndrome 7 23
211 c LTH042 Lethal Congenital Contracture Syndrome 10 23
212 c LTH029 Lethal Congenital Contracture Syndrome 9 23
213 c GLL047 Galloway-Mowat Syndrome 8 22
214 c LTH031 Lethal Congenital Contracture Syndrome 6 21
215 c VSC025 Vesicoureteral Reflux 3 21
216 STR095 Structural Heart Defects and Renal Anomalies Syndrome 19
217 c VRT017 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 16
218 LCH006 Lachiewicz Sibley Syndrome 6
219 P CTS001 Cutis Laxa 65
220 QFV001 Q Fever 60
221 P HYP726 Hypercalcemia, Infantile, 1 58
222 SPT004 Septic Arthritis 58
223 P TMR010 Tumor Predisposition Syndrome 56
224 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 55
225 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
226 INV006 Inverted Papilloma 52
227 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 51
228 c 3MT015 3-Methylglutaconic Aciduria, Type I 51
229 HNT002 Hantavirus Pulmonary Syndrome 50
230 PRS129 Prostatic Hyperplasia, Benign 49
231 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
232 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 45
233 HMR023 Hemorrhagic Cystitis 45
234 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
235 c 3MT014 3-Methylglutaconic Aciduria, Type V 45
236 c BRD013 Bardet-Biedl Syndrome 12 45
237 c ATS393 Autosomal Recessive Cutis Laxa Type I 44
238 c ORT011 Orthostatic Hypotension 1 44
239 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 43
240 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
241 c 3MT024 3-Methylglutaconic Aciduria, Type Vii 42
242 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
243 FML031 Female Stress Incontinence 39
244 HLZ001 Holzgreve Syndrome 38
245 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 38
246 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38
247 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
248 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
249 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
250 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
251 c 3MT007 3-Methylglutaconic Aciduria 36
252 DFF021 Diffuse Mesangial Sclerosis 35
253 P HRD020 Hereditary Renal Cell Carcinoma 34
254 TFR002 Tafro Syndrome 34
255 MLK004 Malakoplakia 33
256 c MYG007 Myoglobinuria, Recurrent 33
257 c ATS015 Autosomal Dominant Alport Syndrome 31
258 RNL001 Renal Artery Obstruction 31
259 5XP001 5-Oxoprolinase Deficiency 31
260 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
261 HMR046 Hemorrhagic Fever-Renal Syndrome 29
262 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 28
263 c ORT012 Orthostatic Hypotension 2 26
264 c FCL027 Focal Segmental Glomerulosclerosis 3 26
265 c ACQ027 Acquired Cutis Laxa 25
266 P PRM227 Primary Orthostatic Hypotension 25
267 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
268 c SNR016 Senior-Loken Syndrome 9 24
269 c LTB003 Ltbp4-Related Cutis Laxa 24
270 c SNR005 Senior-Loken Syndrome 5 24
271 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
272 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 23
273 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 23
274 c EFM001 Efemp2-Related Cutis Laxa 23
275 c INT262 Intermediate Maple Syrup Urine Disease 23
276 P RTN220 Retinal Ciliopathy 22
277 NPH006 Nephrogenic Adenofibroma 21
278 c FHT001 Fh Tumor Predisposition Syndrome 21
279 CLL007 Cellular Congenital Mesoblastic Nephroma 20
280 c ATP003 Atp6v0a2-Related Cutis Laxa 20
281 VSC014 Vascular Hyalinosis 20
282 MLY011 Maleylacetoacetate Isomerase Deficiency 19
283 KDN004 Kidney Hemangiopericytoma 19
284 VLN001 Valinemia 19
285 c FBL003 Fbln5-Related Cutis Laxa 19
286 NPH097 Nephrosialidosis 18
287 MGB001 Megabladder, Congenital 18
288 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 18
289 GLM024 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 18
290 LNP001 Loin Pain Hematuria Syndrome 18
291 P HRD221 Hereditary Nephrogenic Diabetes Insipidus 17
292 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
293 c RNL034 Renal Cell Carcinoma 4 16
294 PX2001 Pax2-Related Disorder 16
295 MTH075 Methionine Malabsorption Syndrome 15
296 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 13
297 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 13
298 NPH050 Nephropathy, Progressive, with Deafness 13
299 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 13
300 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 12
301 RNL116 Renal and Mullerian Duct Hypoplasia 12
302 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 11
303 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
304 CHL044 Childhood Kidney Angiomyolipoma 10
305 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 10
306 KLL010 Kallikrein, Decreased Urinary Activity of 9
307 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 9
308 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
309 CLS004 Classic Congenital Mesoblastic Nephroma 9
310 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
311 RNL010 Renal Pelvis Inverted Papilloma 8
312 VCT003 Vacterl Hydrocephaly 8
313 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
314 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
315 HRD003 Hereditary Conventional Renal Cell Carcinoma 7
316 c RNL048 Renal Tubular Acidosis, Distal, Type 3 7
317 SLG001 Selig Benacerraf Greene Syndrome 6
318 BLD024 Bladder Squamous Papilloma 6
319 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 6
320 JJN005 Jejunal Atresia with Renal Adysplasia 6
321 FRS005 Fraser Jequier Chen Syndrome 6
322 c MLG004 Malignant Hypertensive Renal Disease 5
323 ACR045 Acro-Pectoro-Renal Field Defect 5
324 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
325 NPH099 Nephropathy, Chronic Tubulointerstitial 5
326 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 5
327 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 4
328 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
329 RNL020 Renal Pelvis Urothelial Papilloma 4
330 c BLT012 Bilateral Renal Agenesis Dominant Type 4
331 RRG073 Rare Genetic Renal Disease 4
332 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
333 GLY095 Glycoprotein, Renal 4
334 PLM171 Pulmonic Stenosis and Congenital Nephrosis 4
335 RNL124 Renal Disease with Cataract 3
336 ALL011 Allain-Babin-Demarquez Syndrome 3
337 BLL008 Billet Bear Syndrome 2
338 GNT063 Genetic Renal Tubular Disease 2
339 GNT064 Genetic Renal Tumor 2
340 NPH109 Nephropathy-Associated Ciliopathy 2
341 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 2
342 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 2
343 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 2
344 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 2
345 P BRD002 Bardet-Biedl Syndrome 66
346 LWC002 Lowe Oculocerebrorenal Syndrome 65
347 ALS001 Alstrom Syndrome 64
348 c BRD010 Bardet-Biedl Syndrome 1 62
349 c PRT132 Protoporphyria, Erythropoietic, 1 61
350 HYD002 Hydronephrosis 60
351 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60
352 CPR004 Coproporphyria, Hereditary 57
353 P PYL005 Pyelonephritis 56
354 PRP082 Porphyria, Congenital Erythropoietic 56
355 P DBT005 Diabetes Insipidus 55
356 c BRD011 Bardet-Biedl Syndrome 10 53
357 SCR020 Sacral Defect with Anterior Meningocele 52
358 c BRD014 Bardet-Biedl Syndrome 2 52
359 MTH078 Methylmalonic Aciduria, Cblb Type 51
360 c BRD012 Bardet-Biedl Syndrome 11 51
361 c BRD020 Bardet-Biedl Syndrome 8 50
362 URT001 Urethritis 49
363 c BRD018 Bardet-Biedl Syndrome 6 49
364 BCT004 Bacteriuria 49
365 c BRD015 Bardet-Biedl Syndrome 3 48
366 c BRD032 Bardet-Biedl Syndrome 14 47
367 c BRD047 Bardet-Biedl Syndrome 16 46
368 c BRT050 Bartter Syndrome, Type 2, Antenatal 46
369 c BRD016 Bardet-Biedl Syndrome 4 46
370 c ACT042 Acute Pyelonephritis 46
371 c NPH102 Nephrotic Syndrome, Type 14 44
372 P PRL003 Proliferative Glomerulonephritis 44
373 URT014 Ureterolithiasis 44
374 c BRD033 Bardet-Biedl Syndrome 13 44
375 c BRD019 Bardet-Biedl Syndrome 7 43
376 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
377 URT037 Urethral Stricture 43
378 CRS001 Crescentic Glomerulonephritis 43
379 P HYP347 Hypotonia-Cystinuria Syndrome 43
380 c ALP105 Alport Syndrome 2, Autosomal Recessive 43
381 c BRD044 Bardet-Biedl Syndrome 17 42
382 c MCK034 Meckel Syndrome, Type 8 41
383 c BRD048 Bardet-Biedl Syndrome 18 40
384 PYL004 Pyelitis 40
385 c BRD021 Bardet-Biedl Syndrome 9 39
386 P XNT004 Xanthinuria 39
387 c ACT079 Acute Proliferative Glomerulonephritis 39
388 c BRD017 Bardet-Biedl Syndrome 5 38
389 c CHR098 Chronic Pyelonephritis 38
390 c BRD045 Bardet-Biedl Syndrome 19 37
391 c BRD035 Bardet-Biedl Syndrome 15 37
392 P ANT061 Antenatal Bartter Syndrome 37
393 GLM044 Glomerular Disease 37
394 c CHR020 Chronic Interstitial Cystitis 37
395 DNS007 Dense Deposit Disease 37
396 URT020 Ureterocele 37
397 MTN001 Metanephric Adenoma 37
398 ACT040 Acute Poststreptococcal Glomerulonephritis 36
399 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 35
400 HRS011 Horseshoe Kidney 34
401 PRN007 Perinephritis 33
402 KDN013 Kidney Hypertrophy 32
403 c VCT004 Vacterl Association with Hydrocephalus 32
404 RDT001 Radiation Cystitis 32
405 c HRD142 Hereditary Xanthinuria 31
406 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 31
407 URT016 Urethral Diverticulum 30
408 c FCL055 Focal Segmental Glomerulosclerosis 9 30
409 c PRP091 Porphyria Cutanea Tarda, Type I 29
410 OSC001 Oeis Complex 29
411 TRG001 Trigonitis 29
412 c BRD050 Bardet-Biedl Syndrome 21 29
413 TBL025 Tubulointerstitial Nephritis with Uveitis 28
414 XNT001 Xanthogranulomatous Pyelonephritis 28
415 CYS003 Cystitis Cystica 28
416 URT011 Urethral Calculus 28
417 OMS001 Omsk Hemorrhagic Fever 27
418 DFF015 Diffuse Glomerulonephritis 26
419 c PSD094 Pseudohypoaldosteronism, Type Iib 26
420 P VCT008 Vacterl with Hydrocephalus 26
421 STN013 Stenotrophomonas Maltophilia Infection 25
422 c SNR015 Senior-Loken Syndrome 8 25
423 c SPS013 Spastic Paraplegia 8 25
424 ORT001 Orthostatic Proteinuria 25
425 c BRD051 Bardet-Biedl Syndrome 20 24
426 c MCK036 Meckel Syndrome, Type 9 23
427 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 23
428 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 22
429 ACT041 Acute Diffuse Nephritis 22
430 c HRD156 Hereditary Central Diabetes Insipidus 22
431 c SBC010 Subacute Glomerulonephritis 21
432 c ACQ034 Acquired Central Diabetes Insipidus 21
433 ADN090 Adenosylcobalamin Deficiency 21
434 c HYP712 Hypercalcemia, Infantile, 2 20
435 ATR053 Atresia of Urethra 20
436 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 19
437 EXD002 Exudative Glomerulonephritis 18
438 c PRT135 Protoporphyria, Erythropoietic, 2 18
439 THY105 Thyrocerebroretinal Syndrome 17
440 KDN025 Kidney Cortex Disease 16
441 ISL133 Isolated Epispadias 16
442 PYL001 Pyeloureteritis Cystica 16
443 CMP052 Complication in Hemodialysis 15
444 ACT215 Actg2-Related Disorders 15
445 c SPS029 Spastic Paraplegia 19 13
446 c TRN078 Transient Antenatal Bartter Syndrome 13
447 URC013 Urachal Diverticulum 13
448 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 12
449 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
450 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
451 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 7
452 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
453 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
454 CNG269 Congenital Primary Megaureter, Refluxing Form 4
455 c PRM147 Primary Megaureter, Adult-Onset Form 4
456 NNC001 Non-Congenital Cyst of Kidney 4
457 STR004 Stricture or Kinking of Ureter 4
458 BNG089 Benign Metanephric Tumour 4
459 SYS078 Systemic Disease with Glomerulopathy As a Major Feature 4
460 FCL004 Focal Embolic Glomerulonephritis 3
461 GNT183 Genetic Systemic Disease with Glomerulopathy As a Major Feature 3
462 PRM345 Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability 3
463 BLD039 Bladder Adenocarcinoma 35
464 HMT008 Hematuria, Benign Familial 56
465 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 26
466 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 27
467 BLD031 Bladder Signet Ring Cell Adenocarcinoma 9
468 BLD043 Bladder Clear Cell Adenocarcinoma 27
469 RNL097 Renal Artery Disease 42
470 FML029 Familial Renal Papillary Carcinoma 31
471 INV004 Invasive Bladder Transitional Cell Carcinoma 30
472 HNM002 Hinman Syndrome 27
473 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 10
474 RRR008 Rare Urinary Tract Tumor 6
475 RNL009 Renal Pelvis Squamous Cell Carcinoma 24
476 RNL004 Renal Pelvis Adenocarcinoma 21
477 TRN018 Transitional Cell Carcinoma 56
478 DNR002 Duane-Radial Ray Syndrome 56
479 CHL010 Childhood Kidney Cell Carcinoma 38
480 SRC002 Sarcomatoid Renal Cell Carcinoma 38
481 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 31
482 URT023 Ureteric Orifice Cancer 26
483 CHR176 Chromophil Renal Cell Carcinoma 23
484 KDN008 Kidney Pelvis Papillary Carcinoma 14
485 RNL112 Renal, Genital, and Middle Ear Anomalies 13
486 BLD010 Bladder Colloid Adenocarcinoma 7
487 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 7
488 BLD014 Bladder Colonic Type Adenocarcinoma 6
489 BLD012 Bladder Urothelial Papillary Carcinoma 5
490 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 5
491 ALK013 Alkaptonuria 58
492 AMN007 Aminoacylase 1 Deficiency 36
493 c TWN011 Townes-Brocks Syndrome 1 35
494 SQL002 Squalene Synthase Deficiency 25
495 P FML068 Familial Hypocalciuric Hypercalcemia 54
496 SCL046 Scalp-Ear-Nipple Syndrome 49
497 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 47
498 HWK001 Hawkinsinuria 42
499 CMB011 Combined Malonic and Methylmalonic Aciduria 41
500 ADL060 Adult Polyglucosan Body Disease 36
501 BRN134 Brain Malformations with or Without Urinary Tract Defects 33
502 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 28
503 KDN019 Kidney Sarcoma 26
504 c GLL045 Galloway-Mowat Syndrome 6 25
505 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 20
506 c MYG006 Myoglobinuria, Autosomal Dominant 15
507 ELL004 Ellis Yale Winter Syndrome 7
508 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
509 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 4
510 MLT157 Multiple System Atrophy 1 70
511 c GLY008 Glycogen Storage Disease Ii 70
512 P ALP004 Alport Syndrome 68
513 c GLY060 Glycogen Storage Disease Ia 63
514 c GLY004 Glycogen Storage Disease V 62
515 P GLY013 Glycogen Storage Disease 60
516 c GLY003 Glycogen Storage Disease Iii 59
517 c GLY007 Glycogen Storage Disease Iv 58
518 LMY014 Leiomyoma, Uterine 56
519 c GLY005 Glycogen Storage Disease Vi 56
520 ALP077 Alpha-Methylacetoacetic Aciduria 55
521 P EMB005 Embryonal Rhabdomyosarcoma 53
522 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 50
523 GLY014 Glycerol Kinase Deficiency 49
524 c GLY098 Glycogen Storage Disease, Type Ixd 47
525 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
526 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 44
527 c GLY097 Glycogen Storage Disease Ixb 44
528 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
529 P MLG074 Malignant Mesenchymoma 40
530 c ATS018 Autosomal Recessive Alport Syndrome 40
531 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 40
532 c GLY016 Glycogen Storage Disease Ib 40
533 FRC005 Fructosuria, Essential 39
534 c GLY009 Glycogen Storage Disease Xv 39
535 KDN002 Kidney Rhabdoid Cancer 38
536 c GLY044 Glycogen Storage Disease Ixc 37
537 c CNG002 Congenital Bile Acid Synthesis Defect 37
538 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
539 MCR257 Microcephaly, Amish Type 34
540 c GLY057 Glycogen Storage Disease X 34
541 c XLN231 X-Linked Alport Syndrome 33
542 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 31
543 c GLY043 Glycogen Storage Disease Xii 31
544 c GLY017 Glycogen Storage Disease Ic 30
545 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 29
546 KDN016 Kidney Benign Neoplasm 29
547 c GLY023 Glycogen Storage Disease Type 0 27
548 c GLY093 Glycogen Storage Disease Ixa 25
549 c GLY059 Glycogen Storage Disease Xiii 25
550 c GLL046 Galloway-Mowat Syndrome 7 25
551 c GLY001 Glycogen Storage Disease Ix 25
552 HYP683 Hypogonadism-Cataract Syndrome 25
553 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
554 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
555 c GLY006 Glycogen Storage Disease Viii 23
556 CMB084 Combined Oxidative Phosphorylation Deficiency 34 22
557 P DSR081 Disorder of Bile Acid Synthesis 21
558 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
559 c FML028 Familial Renal Oncocytoma 19
560 FRS010 Forsythe-Wakeling Syndrome 19
561 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 17
562 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 16
563 CLP007 Clpb Deficiency 15
564 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
565 URT041 Urethral Obstruction Sequence 12
566 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 11
567 c ADL020 Adult Malignant Mesenchymoma 11
568 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 10
569 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
570 BLD050 Bladder Urachal Carcinoma 9
571 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
572 BLD021 Bladder Urachal Adenocarcinoma 8
573 SNT001 Santos Mateus Leal Syndrome 8
574 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
575 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
576 BLD004 Bladder Urachal Urothelial Carcinoma 5
577 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
578 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
579 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
580 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
581 BLD017 Bladder Mixed Adenocarcinoma 4
582 OCL029 Oculo Skeletal Renal Syndrome 2
583 c FNC027 Fanconi Anemia, Complementation Group a 81
584 c TBR025 Tuberous Sclerosis 1 77
585 c TBR026 Tuberous Sclerosis 2 72
586 P JBR020 Joubert Syndrome 1 72
587 P KDN018 Kidney Disease 72
588 FBR012 Fabry Disease 72
589 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 70
590 P TBR001 Tuberous Sclerosis 70
591 P LVR013 Liver Disease 68
592 P HML033 Hemolytic Uremic Syndrome, Atypical 1 68
593 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 65
594 P ERL057 Early Infantile Epileptic Encephalopathy 63
595 P RNL100 Renal Hypodysplasia/aplasia 1 63
596 c HYP794 Hyperoxaluria, Primary, Type I 63
597 c ACT068 Acute Cystitis 63
598 c FNC043 Fanconi Anemia, Complementation Group E 62
599 c BRN108 Branchiootic Syndrome 1 62
600 LSC001 Lesch-Nyhan Syndrome 62
601 P CRN108 Cranioectodermal Dysplasia 1 62
602 c PRX045 Peroxisome Biogenesis Disorder 1b 61
603 NPH091 Nephrolithiasis, Calcium Oxalate 60
604 P NPH012 Nephrotic Syndrome 60
605 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60
606 c ACT071 Acute Kidney Failure 60
607 P CYS018 Cystitis 59
608 APP015 Apparent Mineralocorticoid Excess 58
609 P FNC044 Fanconi Anemia, Complementation Group C 57
610 P GLM007 Glomerulonephritis 57
611 P ZLL001 Zellweger Syndrome 57
612 c PRX059 Peroxisome Biogenesis Disorder 1a 56
613 c ACT134 Acute Liver Failure 56
614 VRG001 Variegate Porphyria 56
615 c FNC042 Fanconi Anemia, Complementation Group D2 56
616 c NPH055 Nephrotic Syndrome, Type 1 56
617 PLV003 Pelvic Inflammatory Disease 55
618 MMB001 Membranoproliferative Glomerulonephritis 55
619 NPH009 Nephrolithiasis 55
620 c FNC029 Fanconi Anemia, Complementation Group I 54
621 P CYS039 Cystic Kidney Disease 54
622 c JBR041 Joubert Syndrome 3 53
623 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 52
624 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 52
625 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
626 c FNC025 Fanconi Anemia, Complementation Group J 52
627 c JBR018 Joubert Syndrome 4 51
628 P RNL007 Renal Tubular Acidosis 51
629 END086 End Stage Renal Disease 51
630 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 50
631 c NPH030 Nephronophthisis 2 50
632 c INF145 Infantile Liver Failure Syndrome 1 50
633 c FNC046 Fanconi Anemia, Complementation Group P 50
634 c FNC048 Fanconi Anemia, Complementation Group O 49
635 c L2H001 L-2-Hydroxyglutaric Aciduria 49
636 URM002 Uremia 49
637 c FNC028 Fanconi Anemia, Complementation Group L 49
638 CKT002 Cakut 48
639 c NPH049 Nephrotic Syndrome, Type 2 48
640 INT067 Interstitial Nephritis 48
641 BLD044 Bladder Disease 48
642 c FNC032 Fanconi Anemia, Complementation Group B 48
643 c FNC023 Fanconi Anemia, Complementation Group N 48
644 P PRP056 Porphyria, Acute Hepatic 48
645 c JBR012 Joubert Syndrome 5 47
646 c NPH032 Nephronophthisis 4 47
647 RNL077 Renal Fibrosis 47
648 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 47
649 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
650 c JBR025 Joubert Syndrome 17 46
651 c FNC047 Fanconi Anemia, Complementation Group Q 46
652 c JBR035 Joubert Syndrome 24 46
653 c FCL025 Focal Segmental Glomerulosclerosis 1 46
654 ANR004 Anuria 46
655 c FNC045 Fanconi Anemia, Complementation Group F 46
656 c JBR015 Joubert Syndrome 6 45
657 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 45
658 c NPH054 Nephrotic Syndrome, Type 3 45
659 URL001 Urolithiasis 45
660 ACT003 Acute Kidney Tubular Necrosis 45
661 HYP550 Hypomagnesemia 1, Intestinal 45
662 c ZLL011 Zellweger Spectrum Disorder 45
663 FSH001 Fish-Eye Disease 45
664 c NPH071 Nephronophthisis 14 45
665 c RNL122 Renal Hypodysplasia/aplasia 3 44
666 P PSD003 Pseudohypoaldosteronism 44
667 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 44
668 c NPH068 Nephronophthisis 16 44
669 c JBR024 Joubert Syndrome 14 44
670 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
671 P MYG005 Myoglobinuria 44
672 P RPD001 Rapidly Progressive Glomerulonephritis 44
673 c FNC058 Fanconi Anemia, Complementation Group R 43
674 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 43
675 c FNC057 Fanconi Anemia, Complementation Group U 43
676 c JBR014 Joubert Syndrome 9 43
677 PRS042 Prostate Disease 43
678 IDP073 Idiopathic Hypercalciuria 43
679 c JBR013 Joubert Syndrome 8 42
680 RNL025 Renal Hypoplasia 42
681 c JBR028 Joubert Syndrome 13 42
682 OBS082 Obstructive Nephropathy 42
683 IDP091 Idiopathic Nephrotic Syndrome 42
684 c JBR016 Joubert Syndrome 10 41
685 c NPH067 Nephronophthisis 12 41
686 c PST041 Posterior Urethral Valves 41
687 NPH078 Nephrolithiasis, Uric Acid 41
688 c FML015 Familial Nephrotic Syndrome 41
689 c NPH033 Nephronophthisis 7 41
690 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 41
691 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 41
692 c FNC030 Fanconi Anemia, Complementation Group G 41
693 c JBR026 Joubert Syndrome 15 40
694 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
695 c FNC052 Fanconi Anemia, Complementation Group T 40
696 c NPH072 Nephrotic Syndrome, Type 7 40
697 c JBR031 Joubert Syndrome 21 40
698 LWR018 Lower Urinary Tract Obstruction, Congenital 40
699 BLD045 Bladder Diverticulum 40
700 IMM001 Immune-Complex Glomerulonephritis 40
701 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 39
702 c FNC056 Fanconi Anemia, Complementation Group V 39
703 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 39
704 c NPH065 Nephronophthisis 13 39
705 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 39
706 c NPH076 Nephrotic Syndrome, Type 10 39
707 AMN006 Aminoaciduria 38
708 c NPH077 Nephronophthisis 19 38
709 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38
710 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 38
711 PTT002 Potter's Syndrome 38
712 URT004 Urethral Syndrome 38
713 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 38
714 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 38
715 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 38
716 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 38
717 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 38
718 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38
719 c 2HY001 2-Hydroxyglutaric Aciduria 38
720 NPH113 Nephroma 37
721 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 37
722 NPH037 Nephronophthisis-Like Nephropathy 1 37
723 c CRN109 Cranioectodermal Dysplasia 2 36
724 c JBR042 Joubert Syndrome 23 36
725 c PRX063 Peroxisome Biogenesis Disorder 2a 36
726 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 36
727 THR123 Thrombotic Microangiopathy 36
728 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 36
729 c PRX055 Peroxisome Biogenesis Disorder 11a 36
730 c ATM045 Autoimmune Glomerulonephritis 36
731 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 35
732 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 35
733 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
734 BLD009 Bladder Neck Obstruction 35
735 c NPH047 Nephrotic Syndrome, Type 4 34
736 c JBR037 Joubert Syndrome 26 34
737 c CHR087 Chronic Cystitis 34
738 c JBR030 Joubert Syndrome 22 34
739 c D2H003 D-2-Hydroxyglutaric Aciduria 2 34
740 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 34
741 c JBR022 Joubert Syndrome 20 34
742 c FNC062 Fanconi Anemia, Complementation Group S 34
743 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 34
744 KDN001 Kidney Cortex Necrosis 34
745 c PRX060 Peroxisome Biogenesis Disorder 5a 34
746 c LVR030 Liver Failure, Infantile, Transient 34
747 P ACR072 Acrorenal Syndrome 33
748 c JBR036 Joubert Syndrome 25 33
749 c PRX051 Peroxisome Biogenesis Disorder 6a 33
750 c PRX054 Peroxisome Biogenesis Disorder 12a 32
751 HYP193 Hypocomplementemic Urticarial Vasculitis 32
752 c PRX057 Peroxisome Biogenesis Disorder 4a 31
753 c INF147 Infantile Nephronophthisis 31
754 c PSD093 Pseudohypoaldosteronism, Type Iid 31
755 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 31
756 P RNL115 Renal Tubular Acidosis, Proximal 31
757 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 31
758 c PRX048 Peroxisome Biogenesis Disorder 10a 31
759 c PRX065 Peroxisome Biogenesis Disorder 3a 30
760 c FCL053 Focal Segmental Glomerulosclerosis 8 30
761 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 30
762 c JBR045 Joubert Syndrome 33 30
763 c PRX050 Peroxisome Biogenesis Disorder 9b 30
764 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 30
765 c PRX046 Peroxisome Biogenesis Disorder 7a 29
766 c PRX043 Peroxisome Biogenesis Disorder 6b 29
767 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 29
768 BLD041 Bladder Calculus 29
769 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 29
770 c NPH096 Nephrotic Syndrome, Type 12 29
771 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 28
772 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 28
773 KDN006 Kidney Papillary Necrosis 28
774 RNL021 Renal Tubular Transport Disease 28
775 c JBR044 Joubert Syndrome 31 28
776 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 28
777 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
778 c PRX091 Peroxisome Biogenesis Disorder 8a 27
779 c PRX052 Peroxisome Biogenesis Disorder 13a 27
780 c PRX053 Peroxisome Biogenesis Disorder 14b 27
781 c PRX058 Peroxisome Biogenesis Disorder 4b 27
782 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
783 c PRX047 Peroxisome Biogenesis Disorder 5b 27
784 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 27
785 c SNR006 Senior-Loken Syndrome 6 27
786 c RNL016 Renal Infectious Disease 27
787 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 27
788 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
789 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 27
790 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 26
791 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
792 c SNR004 Senior-Loken Syndrome 4 26
793 c JBR027 Joubert Syndrome 16 26
794 c INF138 Infantile Liver Failure Syndrome 2 26
795 P PRX064 Peroxisome Biogenesis Disorder 2b 26
796 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 26
797 c JBR021 Joubert Syndrome 18 26
798 SDH011 Sedoheptulokinase Deficiency 26
799 c HML034 Hemolytic Uremic Syndrome, Atypical 3 26
800 c PRX066 Peroxisome Biogenesis Disorder 3b 26
801 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
802 c HML037 Hemolytic Uremic Syndrome, Atypical 5 25
803 c JBR043 Joubert Syndrome 32 25
804 c JBR040 Joubert Syndrome 30 25
805 c HML032 Hemolytic Uremic Syndrome, Atypical 4 25
806 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25
807 c NPH073 Nephrotic Syndrome, Type 8 25
808 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
809 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
810 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
811 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 25
812 c JBR039 Joubert Syndrome 28 25
813 c SNR007 Senior-Loken Syndrome 7 25
814 THV001 Thauvin-Robinet-Faivre Syndrome 25
815 c NPH095 Nephrotic Syndrome, Type 11 25
816 c TRN053 Transient Pseudohypoaldosteronism 25
817 c PRX062 Peroxisome Biogenesis Disorder 8b 25
818 c PRX056 Peroxisome Biogenesis Disorder 11b 25
819 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 25
820 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 25
821 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
822 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 25
823 FBR085 Fibrillary Glomerulonephritis 24
824 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
825 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
826 c PLY141 Polycystic Kidney Disease 5 24
827 c FNC061 Fanconi Anemia, Complementation Group W 24
828 c NPH074 Nephrotic Syndrome, Type 9 24
829 MXD010 Mixed Epithelial Stromal Tumour 24
830 c NPH105 Nephrotic Syndrome, Type 17 24
831 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 24
832 c NPH070 Nephrotic Syndrome, Type 6 24
833 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 24
834 BLD030 Bladder Tuberculosis 24
835 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 24
836 c EPL252 Epileptic Encephalopathy, Early Infantile, 84 24
837 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 24
838 c PRX068 Peroxisome Biogenesis Disorder 7b 24
839 c JBR047 Joubert Syndrome 35 24
840 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
841 c EPL246 Epileptic Encephalopathy, Early Infantile, 80 24
842 ARD001 Aredyld 24
843 AXL004 Axial Mesodermal Dysplasia Spectrum 24
844 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
845 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 24
846 c NPH103 Nephrotic Syndrome, Type 15 24
847 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
848 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 23
849 c SPS039 Spastic Paraplegia 5a 23
850 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
851 P ADL099 Adult Cystic Nephroma 23
852 c EPL249 Epileptic Encephalopathy, Early Infantile, 82 23
853 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
854 c NPH108 Nephrotic Syndrome, Type 20 23
855 c EPL243 Epileptic Encephalopathy, Early Infantile, 77 23
856 FCC002 Faciocardiorenal Syndrome 23
857 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 23
858 c EPL250 Epileptic Encephalopathy, Early Infantile, 83 23
859 c SPS036 Spastic Paraplegia 3 23
860 IDP095 Idiopathic Steroid-Resistant Nephrotic Syndrome 23
861 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
862 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
863 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 22
864 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
865 c JBR038 Joubert Syndrome 27 22
866 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 22
867 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 22
868 c EPL248 Epileptic Encephalopathy, Early Infantile, 81 22
869 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 22
870 c JBR048 Joubert Syndrome 36 22
871 URM001 Uremic Neuropathy 22
872 c NPH106 Nephrotic Syndrome, Type 18 22
873 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
874 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
875 c NPH086 Nephronophthisis 20 22
876 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 22
877 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
878 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 21
879 c EPL244 Epileptic Encephalopathy, Early Infantile, 78 21
880 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
881 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
882 c NPH107 Nephrotic Syndrome, Type 19 21
883 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
884 c NPH093 Nephrotic Syndrome, Type 13 20
885 c HYD071 Hydrocephalus, Normal-Pressure, 1 20
886 c NPH104 Nephrotic Syndrome, Type 16 20
887 c EPL245 Epileptic Encephalopathy, Early Infantile, 79 20
888 NLP003 Nail-Patella-Like Renal Disease 20
889 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 20
890 GNT182 Genetic Nephrotic Syndrome 20
891 c PRX089 Peroxisome Biogenesis Disorder 10b 20
892 DLC002 D-Lactic Aciduria with Gout 19
893 ESN013 Eosinophilic Cystitis 19
894 c PRM150 Primary Localized Amyloidosis 19
895 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 19
896 BLT024 Bilateral Renal Aplasia 18
897 c INF190 Infantile Liver Failure Syndrome 3 18
898 LWR004 Lower Urinary Tract Calculus 18
899 c AHM002 Ah Amyloidosis 18
900 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 17
901 IGG011 Igg4-Related Kidney Disease 16
902 CNG330 Congenital Megacalycosis 16
903 c PLY176 Polycystic Kidney Disease 4 16
904 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
905 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 15
906 CLL035 Collagen Type Iii Glomerulopathy 15
907 SNR014 Senior-Boichis Syndrome 14
908 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
909 MGL007 Megalocytic Interstitial Nephritis 13
910 P ANT062 Anterior Urethral Valve 13
911 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 13
912 XLN243 X-Linked Nephrolithiasis Type I 12
913 P CNG326 Congenital Primary Megaureter 12
914 URT019 Urethral Gland Abscess 12
915 GNR029 Generalized Galactose Epimerase Deficiency 12
916 MGC005 Megacystis-Megaureter Syndrome 11
917 c LTN020 Late-Onset Nephronophthisis 11
918 c PRM152 Primary Renal Tubular Acidosis 11
919 c EPL255 Epileptic Encephalopathy, Early Infantile, 86 11
920 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
921 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
922 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 9
923 c MLG055 Malignant Cystic Nephroma 8
924 CNG106 Congenital Megalo-Ureter 6
925 IDP096 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance 6
926 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
927 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 5
928 INF182 Infection-Related Hemolytic Uremic Syndrome 5
929 c ARX003 Arx-Related Epileptic Encephalopathy 5
930 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
931 CNG270 Congenital Primary Megaureter, Obstructed Form 4
932 CNG580 Congenital Disorder of Glycosylation with Nephropathy As a Major Feature 4
933 CNG331 Congenital Bilateral Megacalycosis 4
934 UNL009 Unilateral Congenital Megacalycosis 4
935 GNT180 Genetic Primary Hypomagnesemia with Normocalciuria 3
936 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
937 c FML358 Familial Cystic Renal Disease 3
938 RRG077 Rare Genetic Cause of Hypertension 3
939 IDP094 Idiopathic Multidrug-Resistant Nephrotic Syndrome 3
940 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
941 CNG585 Congenital Primary Megaureter, Refluxing and Obstructed Form 3
942 NNG004 Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature 2
943 DSR087 Disorder with Multisystemic Involvement and Glomerulopathy 2
944 CLL042 Collagen-Related Glomerular Basement Membrane Disease 2
945 KDN014 Kidney Leiomyosarcoma 18
946 KDN005 Kidney Liposarcoma 9
947 P MLN066 Melanoma, Cutaneous Malignant 1 70
948 c MLN055 Melanoma, Cutaneous Malignant 10 52
949 c MLN043 Melanoma, Cutaneous Malignant 8 34
950 c MLN067 Melanoma, Cutaneous Malignant 2 29
951 c MLN075 Melanoma, Cutaneous Malignant 3 27
952 c MLN076 Melanoma, Cutaneous Malignant 5 24
953 c MLN077 Melanoma, Cutaneous Malignant 9 23
954 c MLN042 Melanoma, Cutaneous Malignant 6 22
955 c MLN074 Melanoma, Cutaneous Malignant 4 20
956 c MLN040 Melanoma, Cutaneous Malignant 7 20
957 VSC044 Visceral Myopathy 51
958 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67
959 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 59
960 c MTC054 Mitochondrial Dna Depletion Syndrome 7 51
961 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
962 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 51
963 c MTC059 Mitochondrial Dna Depletion Syndrome 5 50
964 c MTC061 Mitochondrial Dna Depletion Syndrome 1 48
965 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
966 GLT007 Glutathione Synthetase Deficiency 47
967 P MTC010 Mitochondrial Dna Depletion Syndrome 47
968 3MC003 3mc Syndrome 46
969 c MTC060 Mitochondrial Dna Depletion Syndrome 9 45
970 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
971 c MTC088 Mitochondrial Dna Depletion Syndrome 13 42
972 c MTC078 Mitochondrial Dna Depletion Syndrome 11 37
973 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
974 c MTC014 Mitochondrial Dna Deletion Syndromes 26
975 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
976 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
977 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
978 c MTC182 Mitochondrial Dna Depletion Syndrome 16 21
979 c MTC204 Mitochondrial Dna Depletion Syndrome 18 19
980 c MTC200 Mitochondrial Dna Depletion Syndrome 17 17
981 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 16
982 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 16
983 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 7
984 P SHR029 Short Syndrome 63
985 P NRM002 Normal Pressure Hydrocephalus 54
986 P AMY084 Amyloidosis, Finnish Type 53
987 SLR001 Sialuria 50
988 P SPS133 Spastic Paraplegia 2, X-Linked 49
989 c SHR030 Short Qt Syndrome 46
990 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 45
991 c FML294 Familial Short Qt Syndrome 41
992 BLB005 Beaulieu-Boycott-Innes Syndrome 37
993 c SHR032 Short Qt Syndrome 2 32
994 c SPS198 Spastic Paraplegia 16, X-Linked 30
995 c SHR033 Short Qt Syndrome 3 29
996 c SHR031 Short Qt Syndrome 1 28
997 c SPS062 Spastic Paraplegia 34, X-Linked 28
998 LMB076 Lumbar Syndrome 26
999 c FML249 Familial Amyloidosis, Finnish Type 22
1000 KDN010 Kidney Osteogenic Sarcoma 13
1001 KRN006 Karandikar Maria Kamble Syndrome 7
1002 BLD018 Bladder Hepatoid Adenocarcinoma 5
1003 ALS004 Alsing Syndrome 4
1004 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
1005 c SYS001 Systemic Lupus Erythematosus 86
1006 MYL069 Myeloma, Multiple 85
1007 c HYP595 Hypertension, Essential 84
1008 RNL114 Renal Cell Carcinoma, Nonpapillary 78
1009 P NNN008 Noonan Syndrome 1 76
1010 c BTT014 Beta-Thalassemia 74
1011 P ALG028 Alagille Syndrome 1 73
1012 P SRC025 Sarcoidosis 1 70
1013 SMT004 Smith-Lemli-Opitz Syndrome 70
1014 P TMP003 Temporal Arteritis 68
1015 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1016 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1017 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 65
1018 c ATS347 Autosomal Dominant Polycystic Kidney Disease 65
1019 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64
1020 c ALP101 Alpha-Thalassemia 62
1021 P PLY014 Polycystic Kidney Disease 62
1022 P BCK002 Beckwith-Wiedemann Syndrome 62
1023 P PRM002 Primary Hyperoxaluria 62
1024 CHR001 Churg-Strauss Syndrome 61
1025 P LPS004 Lupus Erythematosus 61
1026 WLL001 Williams-Beuren Syndrome 60
1027 P THL005 Thalassemia 60
1028 P NPH005 Nephronophthisis 59
1029 P FML052 Familial Cold Autoinflammatory Syndrome 58
1030 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 58
1031 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
1032 ADL030 Adult-Onset Still's Disease 58
1033 P PLV020 Pelvic Organ Prolapse 57
1034 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57
1035 BLR008 Bilirubin Metabolic Disorder 57
1036 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
1037 GDP001 Goodpasture Syndrome 55
1038 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
1039 P ALP106 Alport Syndrome 1, X-Linked 55
1040 P AML002 Amelogenesis Imperfecta 55
1041 c GLY011 Glycogen Storage Disease Vii 55
1042 RLP001 Relapsing Polychondritis 54
1043 c AML044 Amelogenesis Imperfecta, Type Ig 54
1044 c RBN022 Robinow Syndrome, Autosomal Recessive 1 54
1045 c FML116 Familial Cold Autoinflammatory Syndrome 1 54
1046 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
1047 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
1048 c XNT010 Xanthinuria, Type I 53
1049 TRC003 Trichomoniasis 53
1050 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
1051 P BRT004 Bartter Disease 52
1052 NPH003 Nephrocalcinosis 51
1053 c HYP602 Hyperoxaluria, Primary, Type Ii 51
1054 CYS036 Cystinosis, Nephropathic 51
1055 c RBN018 Robinow Syndrome, Autosomal Dominant 1 51
1056 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
1057 c NPH019 Nephronophthisis 1 50
1058 P MMB011 Membranous Nephropathy 50
1059 P FNC004 Fanconi Syndrome 50
1060 HPT014 Hepatorenal Syndrome 50
1061 VTR016 Vater/vacterl Association 50
1062 HMG002 Hemoglobinuria 50
1063 c MCK032 Meckel Syndrome, Type 3 50
1064 c NNN010 Noonan Syndrome 3 49
1065 P RBN002 Robinow Syndrome 49
1066 GLC106 Glucocorticoid Resistance, Generalized 48
1067 P HYP534 Hypomagnesemia 3, Renal 48
1068 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
1069 c MLG069 Malignant Hypertension 47
1070 c MCK033 Meckel Syndrome, Type 4 47
1071 c FML253 Familial Cold Autoinflammatory Syndrome 3 47
1072 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1073 LPD004 Lipoid Nephrosis 46
1074 c ALP104 Alport Syndrome 3, Autosomal Dominant 46
1075 PDT035 Pediatric Systemic Lupus Erythematosus 46
1076 c RBN017 Robinow Syndrome, Autosomal Dominant 2 46
1077 P HYP733 Hypercalciuria, Absorptive, 2 45
1078 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1079 c NNN013 Noonan Syndrome 6 45
1080 MSN001 Mesangial Proliferative Glomerulonephritis 45
1081 C3G002 C3 Glomerulopathy 45
1082 EXS017 Exstrophy of Bladder 45
1083 c NPH031 Nephronophthisis 3 45
1084 c NPH053 Nephronophthisis 11 44
1085 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
1086 INT258 Interstitial Nephritis, Karyomegalic 44
1087 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 44
1088 c NPH035 Nephronophthisis 9 44
1089 c NNN011 Noonan Syndrome 4 44
1090 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 43
1091 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 43
1092 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
1093 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
1094 c FML117 Familial Cold Autoinflammatory Syndrome 2 43
1095 c SRC023 Sarcoidosis 2 43
1096 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
1097 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
1098 BNS003 Binswanger's Disease 42
1099 ONC003 Oncogenic Osteomalacia 42
1100 LPP002 Lipoprotein Glomerulopathy 42
1101 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
1102 RNL094 Renal Dysplasia, Cystic 42
1103 c NPH069 Nephronophthisis 15 42
1104 c NNN021 Noonan Syndrome 8 41
1105 c ATS082 Autosomal Dominant Robinow Syndrome 41
1106 c NPH075 Nephronophthisis 18 41
1107 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
1108 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
1109 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 41
1110 HYP187 Hypertryptophanemia 41
1111 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
1112 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
1113 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
1114 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 40
1115 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 40
1116 c AML057 Amelogenesis Imperfecta, Type Iiia 40
1117 KLL014 Kelley-Seegmiller Syndrome 39
1118 c JVN041 Juvenile Nephronophthisis 39
1119 c NNN009 Noonan Syndrome 2 39
1120 c FCL026 Focal Segmental Glomerulosclerosis 2 39
1121 c AML020 Amelogenesis Imperfecta, Type Iv 39
1122 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1123 CDQ001 Cauda Equina Syndrome 38
1124 c SYS043 Systemic Lupus Erythematosus 1 38
1125 c AML017 Amelogenesis Imperfecta, Type Ib 37
1126 P FML187 Familial Hypertension 37
1127 c NNN012 Noonan Syndrome 5 37
1128 c XNT011 Xanthinuria, Type Ii 37
1129 c VNM002 Van Maldergem Syndrome 2 37
1130 c NNN020 Noonan Syndrome 7 36
1131 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 36
1132 c SYS061 Systemic Lupus Erythematosus 16 36
1133 c AML061 Amelogenesis Imperfecta, Type Ie 36
1134 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
1135 c AML047 Amelogenesis Imperfecta, Type Ia 35
1136 c HYP438 Hyperaldosteronism, Familial, Type Iii 35
1137 c FNC059 Fanconi-Like Syndrome 35
1138 c FCL028 Focal Segmental Glomerulosclerosis 5 35
1139 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
1140 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 34
1141 c AML050 Amelogenesis Imperfecta, Type if 34
1142 OLG021 Oligomeganephronia 33
1143 c FCL043 Focal Segmental Glomerulosclerosis 6 33
1144 c NNN024 Noonan Syndrome 9 33
1145 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 32
1146 TRL002 Tarlov Cysts 32
1147 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 32
1148 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1149 c NNN025 Noonan Syndrome 10 32
1150 c FCL085 Focal Segmental Glomerulosclerosis 7 32
1151 PDN001 Pudendal Neuralgia 31
1152 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
1153 PCM002 Pauci-Immune Glomerulonephritis 30
1154 GLN006 Glandular Cystitis 30
1155 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
1156 P VNM004 Van Maldergem Syndrome 29
1157 c AML018 Amelogenesis Imperfecta, Type Ic 29
1158 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28
1159 EPD025 Epidermolysis Bullosa with Pyloric Atresia 28
1160 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 27
1161 c JVN019 Juvenile Temporal Arteritis 27
1162 c BNG021 Benign Essential Hypertension 26
1163 P RNL123 Renal Agenesis, Bilateral 26
1164 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 26
1165 c SYS038 Systemic Lupus Erythematosus 2 26
1166 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
1167 3HY001 3-Hydroxyisobutyric Aciduria 26
1168 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 25
1169 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1170 IMM053 Immunotactoid Glomerulopathy 25
1171 c NNN034 Noonan Syndrome 12 24
1172 c RBN023 Robinow Syndrome, Autosomal Recessive 2 24
1173 c NNN029 Noonan Syndrome 11 24
1174 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1175 NRS001 Neuroschistosomiasis 23
1176 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 23
1177 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23
1178 OCL073 Oculoskeletodental Syndrome 23
1179 URC004 Urachal Cancer 23
1180 c MLG039 Malignant Essential Hypertension 22
1181 c AML048 Amelogenesis Imperfecta, Type Ih 22
1182 RNL089 Renal Nutcracker Syndrome 22
1183 c SYS069 Systemic Lupus Erythematosus 6 21
1184 c SYS046 Systemic Lupus Erythematosus 3 21
1185 c SYS040 Systemic Lupus Erythematosus 10 21
1186 P HYP868 Hypophosphatemic Nephrolithiasis/osteoporosis 21
1187 c AML059 Amelogenesis Imperfecta, Type Ij 21
1188 c GLC115 Galactosemia Iv 20
1189 c SRC024 Sarcoidosis 3 20
1190 c SYS051 Systemic Lupus Erythematosus 4 20
1191 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
1192 DPL007 Duplication of Urethra 20
1193 c BRT024 Bartter Syndrome Type 4 20
1194 c SYS041 Systemic Lupus Erythematosus 9 19
1195 c MLG080 Malignant Secondary Hypertension 19
1196 c AML064 Amelogenesis Imperfecta, Type Iiic 19
1197 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
1198 c SYS053 Systemic Lupus Erythematosus 5 19
1199 HVY003 Heavy Chain Deposition Disease 19
1200 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
1201 UNL014 Unilateral Multicystic Dysplastic Kidney 18
1202 PHS019 Phosphohydroxylysinuria 18
1203 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 18
1204 c SYS065 Systemic Lupus Erythematosus 11 17
1205 DYS180 Dyschondrosteosis and Nephritis 17
1206 c SYS048 Systemic Lupus Erythematosus 8 17
1207 RRC029 Rare Cause of Hypertension 17
1208 c SYS052 Systemic Lupus Erythematosus 13 16
1209 PTN009 Patent Urachus 16
1210 c CHR471 Chronic Hepatic Porphyria 16
1211 c SYS055 Systemic Lupus Erythematosus 12 16
1212 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1213 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
1214 c HYP809 Hypercalciuria, Absorptive, 1 15
1215 RRR010 Rare Renal Tumor 15
1216 c SYS047 Systemic Lupus Erythematosus 7 14
1217 APV001 Aapoaiv Amyloidosis 14
1218 LGH014 Light and Heavy Chain Deposition Disease 14
1219 RNL109 Renal Hypoplasia, Bilateral 14
1220 GRH002 Graham Boyle Troxell Syndrome 14
1221 c RR2001 Ror2-Related Robinow Syndrome 13
1222 URC012 Urachal Sinus 13
1223 MLT112 Multiloculated Renal Cyst 13
1224 c SYS045 Systemic Lupus Erythematosus 14 13
1225 c PRM222 Primary Polyarteritis Nodosa 13
1226 c SYS067 Systemic Lupus Erythematosus 15 12
1227 c PLV014 Pelvic Organ Prolapse 2 12
1228 c BNG034 Benign Secondary Hypertension 11
1229 c HYP447 Hypertension, Essential 1 11
1230 c HYP449 Hypertension, Essential 3 11
1231 c HYP452 Hypertension, Essential 6 11
1232 c HYP448 Hypertension, Essential 2 10
1233 c HYP450 Hypertension, Essential 4 10
1234 RNL032 Renal Caliceal Diverticuli Deafness 10
1235 c HYP451 Hypertension, Essential 5 10
1236 c HYP454 Hypertension, Essential 8 10
1237 c AML063 Amelogenesis Imperfecta Type 2a1 9
1238 c HYP453 Hypertension, Essential 7 9
1239 CNG337 Congenital Renal Artery Stenosis 9
1240 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
1241 RNL107 Renal Dysplasia, Bilateral 9
1242 RNL106 Renal Dysplasia, Unilateral 8
1243 SNG013 Single-Organ Polyarteritis Nodosa 8
1244 RNL108 Renal Hypoplasia, Unilateral 8
1245 c ALP107 Alpha-Thalassemia and Related Diseases 7
1246 P JVN036 Juvenile Sialidosis Type 2 7
1247 c CNG348 Congenital Sialidosis Type 2 7
1248 IDP097 Idiopathic Non-Lupus Full-House Nephropathy 6
1249 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 6
1250 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1251 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1252 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
1253 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
1254 c BTT015 Beta-Thalassemia and Related Diseases 5
1255 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
1256 CNG583 Congenital Urachal Anomaly 5
1257 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
1258 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1259 INH026 Inherited Renal Cancer-Predisposing Syndrome 3
1260 GNT181 Genetic Primary Hypomagnesemia with Hypocalciuria 3
1261 NPH112 Nephrotic Syndrome Without Extrarenal Manifestations 3
1262 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
1263 URN009 Urinary System Disease 48
1264 KRN001 Korean Hemorrhagic Fever 35
1265 RNL012 Renal Tuberculosis 33
1266 c KDN012 Kidney Carcinoma in Situ 6
1267 VSC006 Vascular Cancer 51
1268 PRT010 Parathyroid Carcinoma 67
1269 RNL065 Renal Cell Carcinoma, Papillary, 1 73
1270 P OST001 Osteopetrosis 70
1271 c CHR684 Chronic Kidney Disease 70
1272 c CNG411 Congenital Disorder of Glycosylation, Type in 68
1273 FCT007 Factor Vii Deficiency 67
1274 c TYR012 Tyrosinemia, Type I 66
1275 c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
1276 c HRD010 Hereditary Spastic Paraplegia 66
1277 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65
1278 ALP103 Alpha-1-Antitrypsin Deficiency 64
1279 HJD001 Hajdu-Cheney Syndrome 64
1280 CYS013 Cystinuria 63
1281 P PRP029 Porphyria 62
1282 P INT143 Interstitial Cystitis 61
1283 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
1284 P CTR002 Cataract 60
1285 NLP001 Nail-Patella Syndrome 60
1286 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 59
1287 DBN001 Dubin-Johnson Syndrome 59
1288 P LDD007 Liddle Syndrome 1 59
1289 P TYR004 Tyrosinemia 58
1290 P PLY041 Polymyositis 57
1291 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
1292 PLY023 Polycystic Liver Disease 57
1293 P FCL005 Focal Segmental Glomerulosclerosis 57
1294 P URF003 Urofacial Syndrome 1 57
1295 c RBN021 Rubinstein-Taybi Syndrome 1 57
1296 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57
1297 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1298 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
1299 PTS001 Patau Syndrome 55
1300 P TWN003 Townes-Brocks Syndrome 55
1301 c OST163 Osteopetrosis, Autosomal Recessive 3 55
1302 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1303 c OST131 Osteopetrosis, Autosomal Dominant 2 53
1304 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
1305 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
1306 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1307 MCR088 Microscopic Polyangiitis 51
1308 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
1309 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
1310 c ACT078 Acute Porphyria 51
1311 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 50
1312 HRT031 Hartnup Disorder 50
1313 c AMY009 Amyloidosis Aa 50
1314 RNL078 Renal Dysplasia 50
1315 RNL011 Renal Osteodystrophy 50
1316 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
1317 c OST126 Osteopetrosis, Autosomal Recessive 1 49
1318 MYL003 Myeloid Sarcoma 49
1319 c OST136 Osteopetrosis, Autosomal Recessive 7 49
1320 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1321 c VNM003 Van Maldergem Syndrome 1 48
1322 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
1323 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
1324 HLX001 Helix Syndrome 47
1325 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 47
1326 c TYR013 Tyrosinemia, Type Ii 47
1327 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 47
1328 LMT001 Limited Scleroderma 47
1329 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
1330 c CTR098 Cataract 1, Multiple Types 46
1331 c GLC111 Galactosemia Ii 46
1332 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 46
1333 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
1334 c BRT042 Bartter Syndrome, Type 3 46
1335 c OST134 Osteopetrosis, Autosomal Recessive 6 46
1336 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 46
1337 P TRN034 Transverse Myelitis 45
1338 c OST137 Osteopetrosis, Autosomal Recessive 4 45
1339 GLC022 Glucose/galactose Malabsorption 45
1340 P GNT009 Giant Axonal Neuropathy 45
1341 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
1342 CMP042 Complement Factor H Deficiency 45
1343 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 45
1344 c OST120 Osteopetrosis, Autosomal Recessive 5 45
1345 c CTR103 Cataract 4, Multiple Types 45
1346 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
1347 c CTR096 Cataract 6, Multiple Types 45
1348 c OST129 Osteopetrosis, Autosomal Recessive 2 44
1349 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
1350 CTY001 Cat Eye Syndrome 44
1351 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 44
1352 P HYP761 Hypouricemia, Renal, 1 44
1353 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 44
1354 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1355 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
1356 CNG029 Congenital Mesoblastic Nephroma 44
1357 P BRN042 Branchiootic Syndrome 44
1358 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
1359 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
1360 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1361 PRM237 Primary Hypomagnesemia 43
1362 P IMR002 Imerslund-Grasbeck Syndrome 1 43
1363 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
1364 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
1365 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
1366 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 43
1367 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42
1368 MTH077 Methylmalonic Aciduria, Cbla Type 42
1369 P DST107 Distal Renal Tubular Acidosis 42
1370 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
1371 BP1002 Bap1 Tumor Predisposition Syndrome 42
1372 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
1373 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
1374 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
1375 HYP648 Hypertension and Brachydactyly Syndrome 42
1376 MLT084 Multicystic Dysplastic Kidney 42
1377 ARC002 Arachnoiditis 42
1378 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
1379 c CTR132 Cataract 3, Multiple Types 41
1380 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
1381 c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 41
1382 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 41
1383 c CTR118 Cataract 14, Multiple Types 41
1384 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 41
1385 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
1386 c CTR183 Cataract 38 40
1387 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
1388 MDL009 Medullary Sponge Kidney 40
1389 c TYR011 Tyrosinemia, Type Iii 40
1390 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1391 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
1392 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
1393 LGH004 Light Chain Deposition Disease 40
1394 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
1395 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 40
1396 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1397 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
1398 P FML156 Familial Hyperaldosteronism 39
1399 c CTR130 Cataract 9, Multiple Types 39
1400 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
1401 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
1402 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 39
1403 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
1404 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1405 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
1406 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
1407 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1408 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1409 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
1410 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1411 c ACT159 Acute Transverse Myelitis 38
1412 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
1413 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
1414 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38
1415 c CTR115 Cataract 16, Multiple Types 37
1416 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
1417 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 37
1418 GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 37
1419 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
1420 c CTR113 Cataract 11, Multiple Types 37
1421 CFH006 Cfhr5 Deficiency 37
1422 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1423 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1424 GRN034 Grange Syndrome 36
1425 c CTR141 Cataract 21, Multiple Types 36
1426 c CTR174 Cataract 40 36
1427 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 36
1428 c OST106 Osteopetrosis, Autosomal Recessive 8 35
1429 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 35
1430 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1431 c CTR129 Cataract 31, Multiple Types 35
1432 c CTR095 Cataract 8, Multiple Types 35
1433 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
1434 c CTR170 Cataract 30, Multiple Types 35
1435 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 35
1436 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 35
1437 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1438 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
1439 TBS001 Tabes Dorsalis 34
1440 P MDL008 Medullary Cystic Kidney Disease 1 34
1441 c TYP024 Type Ii Mixed Cryoglobulinemia 34
1442 c CTR145 Cataract 44 34
1443 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 34
1444 c CTR122 Cataract 5, Multiple Types 34
1445 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
1446 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
1447 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
1448 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 33
1449 c CTR111 Cataract 36 33
1450 c CTR181 Cataract 18 33
1451 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
1452 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
1453 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1454 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1455 c OST125 Osteopetrosis, Autosomal Dominant 1 32
1456 c CNG188 Congenital Disorder of Glycosylation, Type if 32
1457 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 32
1458 c CTR185 Cataract 30 32
1459 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
1460 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1461 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1462 PRT094 Protoporphyria, Erythropoietic, X-Linked 31
1463 c CTR102 Cataract 2, Multiple Types 31
1464 c CTR097 Cataract 34, Multiple Types 31
1465 c DNT021 Dent Disease 2 30
1466 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1467 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1468 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1469 c SPS021 Spastic Paraplegia 10 30
1470 c CTR119 Cataract 32, Multiple Types 29
1471 c CTR175 Cataract 24 29
1472 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1473 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1474 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1475 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1476 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1477 c BRN128 Branchiootic Syndrome 3 29
1478 RNL039 Renal Dysplasia-Limb Defects Syndrome 28
1479 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1480 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1481 c CTR121 Cataract 25 28
1482 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 28
1483 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1484 c SPS091 Spastic Paraplegia 4 28
1485 c CTR166 Cataract 33, Multiple Types 28
1486 c CTR187 Cataract 48 28
1487 c CTR158 Cataract 37 27
1488 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1489 c CTR131 Cataract 17, Multiple Types 27
1490 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
1491 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1492 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
1493 c CTR180 Cataract 22, Multiple Types 27
1494 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1495 c CTR125 Cataract 7 27
1496 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1497 c HRD220 Hereditary Spastic Paraplegia 30 27
1498 c CTR124 Cataract 10, Multiple Types 27
1499 KHN002 Khan-Khan-Katsanis Syndrome 27
1500 c SYS066 Systemic Polyarteritis Nodosa 26
1501 P SPS012 Spastic Paraplegia 3a 26
1502 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1503 c PSD068 Pseudohypoaldosteronism, Type Iic 26
1504 P TTR028 Tetraamelia Syndrome 1 25
1505 c SPS092 Spastic Paraplegia 11 25
1506 c CTR182 Cataract 23, Multiple Types 25
1507 c CTR116 Cataract 15, Multiple Types 25
1508 c CTR165 Cataract 19, Multiple Types 25
1509 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1510 c CTR105 Cataract 12, Multiple Types 25
1511 c HRD186 Hereditary Spastic Paraplegia 51 24
1512 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
1513 STN006 Steinfeld Syndrome 24
1514 CLR112 Clear Cell Papillary Renal Cell Carcinoma 24
1515 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
1516 c CTR110 Cataract 26, Multiple Types 23
1517 c SPS025 Spastic Paraplegia 15 23
1518 c CTR136 Cataract 41 23
1519 c CTR162 Cataract 47 23
1520 c CTR157 Cataract 28 23
1521 c LDD008 Liddle Syndrome 2 23
1522 c HRD188 Hereditary Spastic Paraplegia 72 23
1523 c SPS027 Spastic Paraplegia 17 22
1524 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1525 c HRD210 Hereditary Spastic Paraplegia 23 22
1526 c TWN010 Townes-Brocks Syndrome 2 22
1527 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1528 c CTR169 Cataract 29 22
1529 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
1530 c CTR184 Cataract 39, Multiple Types 22
1531 c OST171 Osteopetrosis, Autosomal Dominant 3 21
1532 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1533 c TTR029 Tetraamelia Syndrome 2 21
1534 c CTR106 Cataract 20, Multiple Types 21
1535 c IMR003 Imerslund-Grasbeck Syndrome 2 21
1536 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
1537 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1538 c BRN073 Branchiootic Syndrome 2 20
1539 c CTR159 Cataract 35 20
1540 c CTR144 Cataract 43 20
1541 CRM007 Crome Syndrome 20
1542 c CTR139 Cataract 42 20
1543 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
1544 c SPS041 Spastic Paraplegia 6 19
1545 c CTR160 Cataract 45 19
1546 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 18
1547 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
1548 FTL074 Fetal Lower Urinary Tract Obstruction 18
1549 c CTR178 Cataract 27 18
1550 c SPS028 Spastic Paraplegia 18 17
1551 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 17
1552 c LDD009 Liddle Syndrome 3 17
1553 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 16
1554 c CTR128 Cataract 33 16
1555 c GNT045 Giant Axonal Neuropathy 2 16
1556 c SPS023 Spastic Paraplegia 13 16
1557 APM001 Aapoaii Amyloidosis 15
1558 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1559 c SPS042 Spastic Paraplegia 9 15
1560 BLT020 Bilateral Multicystic Dysplastic Kidney 15
1561 c SPS032 Spastic Paraplegia 24 15
1562 c CLC009 Clcn7-Related Osteopetrosis 15
1563 c SPS038 Spastic Paraplegia 39 14
1564 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1565 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1566 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 13
1567 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
1568 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1569 c SPS022 Spastic Paraplegia 12 13
1570 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
1571 TBL026 Tubulocystic Renal Cell Carcinoma 13
1572 c SPS035 Spastic Paraplegia 29 13
1573 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1574 c SPS034 Spastic Paraplegia 26 13
1575 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 13
1576 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
1577 c SPS033 Spastic Paraplegia 25 12
1578 c SPS161 Spastic Paraplegia 32 12
1579 c SPS024 Spastic Paraplegia 14 12
1580 c SPS165 Spastic Paraplegia 47 12
1581 c SPS230 Spastic Paraplegia Type 49 11
1582 c SPS026 Spastic Paraplegia 16 11
1583 c CTR025 Cataract, Total Congenital 10
1584 c RRP004 Rare Primary Hyperaldosteronism 9
1585 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1586 P RBN007 Rubinstein Taybi Like Syndrome 7
1587 c SPS040 Spastic Paraplegia 5b 7
1588 RRR011 Rare Renal Tubular Disease 6
1589 c SCN040 Secondary Acute Transverse Myelitis 6
1590 P DSR041 Disorder of Multiple Glycosylation 6
1591 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1592 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1593 c CTR008 Cataract Congenital Autosomal Dominant 4
1594 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
1595 IDP098 Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy 4
1596 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1597 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
1598 HMT022 Hematological Disorder with Renal Involvement 3
1599 P KDN017 Kidney Cancer 60
1600 P INT070 Intestinal Obstruction 58
1601 c INT072 Intestinal Pseudo-Obstruction 56
1602 SCK003 Sickle Cell Anemia 74
1603 VNH007 Von Hippel-Lindau Syndrome 73
1604 WLS001 Wilson Disease 71
1605 P AMY004 Amyloidosis 70
1606 P SYS005 Systemic Scleroderma 68
1607 CHR103 Charge Syndrome 67
1608 P PRP003 Porphyria Cutanea Tarda 67
1609 c PSD108 Pseudohypoparathyroidism, Type Ia 66
1610 P CHR071 Charcot-Marie-Tooth Disease 65
1611 c LCL006 Localized Scleroderma 62
1612 P MCH002 Machado-Joseph Disease 62
1613 TKY002 Takayasu Arteritis 62
1614 P DRM010 Dermatomyositis 61
1615 c SCL052 Scleroderma, Familial Progressive 61
1616 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1617 P PLY017 Polyarteritis Nodosa 58
1618 PPL048 Papillorenal Syndrome 58
1619 BRG013 Buerger Disease 58
1620 CHR177 Chromophobe Renal Cell Carcinoma 57
1621 GLT035 Glutaric Acidemia I 57
1622 P PSD015 Pseudohypoparathyroidism 56
1623 c FRS014 Fraser Syndrome 1 56
1624 c PSD066 Pseudohypoparathyroidism, Type Ib 55
1625 CLR030 Clear Cell Renal Cell Carcinoma 53
1626 CLL002 Collecting Duct Carcinoma 53
1627 P HML001 Hemolytic-Uremic Syndrome 53
1628 c FNC024 Fanconi Anemia, Complementation Group D1 52
1629 MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 52
1630 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
1631 P OLV001 Olivopontocerebellar Atrophy 51
1632 c ALM001 Al Amyloidosis 50
1633 c HYP603 Hyperoxaluria, Primary, Type Iii 50
1634 P SMP003 Simpson-Golabi-Behmel Syndrome 50
1635 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50
1636 P CRY007 Cryoglobulinemia, Familial Mixed 50
1637 INP001 Inappropriate Adh Syndrome 49
1638 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48
1639 IGG001 Iga Glomerulonephritis 48
1640 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48
1641 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 47
1642 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47
1643 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 46
1644 HYP236 Hyperbilirubinemia, Rotor Type 46
1645 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 46
1646 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
1647 c HRD039 Hereditary Amyloidosis 45
1648 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45
1649 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45
1650 DNB001 Danubian Endemic Familial Nephropathy 44
1651 P HYP111 Hyperprolinemia 44
1652 c HYP210 Hypomagnesemia 2, Renal 43
1653 RNL119 Renal Cell Carcinoma, Xp11-Associated 43
1654 c HYP597 Hyperprolinemia, Type Ii 43
1655 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41
1656 c HYP248 Hyperprolinemia, Type I 41
1657 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41
1658 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
1659 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
1660 KDN007 Kidney Clear Cell Sarcoma 40
1661 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40
1662 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 40
1663 VNT030 Ventriculomegaly with Cystic Kidney Disease 39
1664 RHY001 Rhyns Syndrome 38
1665 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38
1666 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1667 HYP249 Hyperthyroidism, Nonautoimmune 36
1668 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36
1669 TTH004 Tethered Spinal Cord Syndrome 35
1670 P BTR001 Botryoid Rhabdomyosarcoma 35
1671 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 34
1672 c ALG016 Alagille Syndrome 2 34
1673 P GLM015 Glomerulopathy with Fibronectin Deposits 2 34
1674 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
1675 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33
1676 c FRS016 Fraser Syndrome 2 33
1677 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
1678 GLT011 Glutamine Deficiency, Congenital 32
1679 c FML324 Familial Porphyria Cutanea Tarda 31
1680 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 31
1681 c ADL027 Adult Dermatomyositis 30
1682 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 30
1683 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30
1684 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 30
1685 IDP085 Idiopathic Infantile Hypercalcemia 28
1686 CTN019 Cutaneous Polyarteritis Nodosa 27
1687 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
1688 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
1689 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 27
1690 c FRS015 Fraser Syndrome 3 26
1691 URC005 Urachal Cyst 25
1692 c CHR026 Charcot-Marie-Tooth Disease Type X 25
1693 HYP481 Hyperbiliverdinemia 25
1694 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
1695 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
1696 c MCK026 Meckel Syndrome 12 24
1697 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1698 LGH017 Leigh Syndrome with Nephrotic Syndrome 23
1699 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 23
1700 NRF010 Neurofaciodigitorenal Syndrome 23
1701 c CHR135 Charcot-Marie-Tooth Disease Type 2a 22
1702 MSC089 Mosaic Monosomy X 21
1703 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 20
1704 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
1705 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
1706 c JVN046 Juvenile Polymyositis 19
1707 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1708 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
1709 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 17
1710 c CHR571 Charcot-Marie-Tooth Disease Type 5 17
1711 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1712 AFB003 Afib Amyloidosis 16
1713 c MCH013 Machado-Joseph Disease Type 3 16
1714 c MCH012 Machado-Joseph Disease Type 1 16
1715 c MCH014 Machado-Joseph Disease Type 2 16
1716 APM002 Aapoai Amyloidosis 15
1717 c OLV005 Olivopontocerebellar Atrophy V 15
1718 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14
1719 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 13
1720 P FRS017 Fraser-Like Syndrome 13
1721 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1722 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 12
1723 DNT019 Daentl Towsend Siegel Syndrome 12
1724 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1725 c SCN055 Secondary Polyarteritis Nodosa 9
1726 c CHR701 Charcot-Marie-Tooth Disease Type 1g 9
1727 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 8
1728 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
1729 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
1730 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
1731 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1732 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
1733 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
1734 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1735 P LYN001 Lynch Syndrome 77
1736 P FML018 Familial Mediterranean Fever 73
1737 CHL065 Cholangiocarcinoma 68
1738 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66
1739 P MCK013 Meckel Syndrome, Type 1 65
1740 MCK007 Muckle-Wells Syndrome 65
1741 PRP083 Porphyria, Acute Intermittent 64
1742 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 64
1743 BRT002 Birt-Hogg-Dube Syndrome 63
1744 ELL001 Ellis-Van Creveld Syndrome 62
1745 P DNT020 Dent Disease 1 62
1746 c ORF037 Orofaciodigital Syndrome I 60
1747 c LYN004 Lynch Syndrome I 60
1748 c HYP731 Hyperaldosteronism, Familial, Type I 60
1749 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59
1750 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 58
1751 MXD005 Mixed Connective Tissue Disease 58
1752 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57
1753 AMY082 Amyloidosis, Familial Visceral 57
1754 FRC011 Fructose Intolerance, Hereditary 57
1755 P SNR003 Senior-Loken Syndrome 1 56
1756 CNN011 Cenani-Lenz Syndactyly Syndrome 55
1757 FRS002 Frasier Syndrome 55
1758 HNC001 Henoch-Schoenlein Purpura 55
1759 ADN024 Adenine Phosphoribosyltransferase Deficiency 54
1760 PRS055 Pierson Syndrome 53
1761 P RNL028 Renal Tubular Dysgenesis 51
1762 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
1763 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
1764 DFF035 Diffuse Cutaneous Systemic Sclerosis 49
1765 c MCK031 Meckel Syndrome, Type 2 47
1766 c MCK030 Meckel Syndrome, Type 7 47
1767 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 46
1768 c MCK014 Meckel Syndrome, Type 5 46
1769 c MCK012 Meckel Syndrome, Type 6 45
1770 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 44
1771 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 42
1772 INF159 Infantile Sialic Acid Storage Disease 41
1773 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 37
1774 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 34
1775 c RNL113 Renal Failure, Progressive, with Hypertension 34
1776 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 34
1777 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 30
1778 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 30
1779 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 28
1780 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 28
1781 c MCK035 Meckel Syndrome, Type 10 27
1782 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25
1783 c MCK028 Meckel Syndrome 13 25
1784 c MCK020 Meckel Syndrome, Type 11 22
1785 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 21
1786 c SNR011 Senior-Loken Syndrome 3 20
1787 OCL043 Oculorenocerebellar Syndrome 20
1788 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
1789 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 17
1790 BHC003 Behcet Syndrome 71
1791 P TRN020 Turner Syndrome 67
1792 c RHB024 Rhabdomyosarcoma 2 67
1793 GTL001 Gitelman Syndrome 65
1794 PRP001 Propionic Acidemia 65
1795 c WLM013 Wilms Tumor 1 65
1796 PLL001 Pallister-Hall Syndrome 64
1797 P RHB003 Rhabdomyosarcoma 63
1798 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 60
1799 RNL024 Renal Glucosuria 58
1800 CHL028 Childhood Type Dermatomyositis 58
1801 DNY001 Denys-Drash Syndrome 57
1802 PRN038 Prune Belly Syndrome 56
1803 PSD014 Pseudopseudohypoparathyroidism 55
1804 c GLL038 Galloway-Mowat Syndrome 1 52
1805 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50
1806 HND004 Hand-Foot-Genital Syndrome 48
1807 P SLL003 Salla Disease 48
1808 GRC001 Gracile Syndrome 47
1809 P BRN006 Branchiootorenal Syndrome 46
1810 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 44
1811 TRN021 Transaldolase Deficiency 43
1812 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 42
1813 P GLL032 Galloway-Mowat Syndrome 41
1814 BTR002 Beta-Ureidopropionase Deficiency 41
1815 P HRD086 Hereditary Hypophosphatemic Rickets 40
1816 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 38
1817 MLN011 Malonyl-Coa Decarboxylase Deficiency 38
1818 PLY158 Polyglucosan Body Neuropathy, Adult Form 34
1819 c GLL040 Galloway-Mowat Syndrome 3 30
1820 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
1821 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 29
1822 MCP039 Mucoepithelial Dysplasia, Hereditary 29
1823 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1824 c GLL042 Galloway-Mowat Syndrome 5 25
1825 c GLL041 Galloway-Mowat Syndrome 4 24
1826 c PSD047 Pseudo-Turner Syndrome 21
1827 c BRN138 Branchiootorenal Spectrum Disorder 21
1828 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
1829 BRK013 Birk-Landau-Perez Syndrome 19
1830 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
1831 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 15
1832 c GLL043 Galloway-Mowat Syndrome 2 14
1833 c INT094 Intermediate Severe Salla Disease 12
1834 RHB001 Rhabdoid Cancer 63
1835 P PSD087 Pseudoxanthoma Elasticum 65
1836 P PLR004 Pleuropulmonary Blastoma 65
1837 P THR005 Thrombotic Thrombocytopenic Purpura 61
1838 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
1839 PRL032 Perlman Syndrome 57
1840 FNC009 Fanconi-Bickel Syndrome 56
1841 SCH016 Schimke Immunoosseous Dysplasia 55
1842 c ORF034 Orofaciodigital Syndrome Vi 55
1843 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
1844 c THR124 Thrombotic Thrombocytopenic Purpura, Hereditary 54
1845 FMR004 Fumarase Deficiency 51
1846 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
1847 c ORF040 Orofaciodigital Syndrome Viii 50
1848 P ORF001 Orofaciodigital Syndrome 48
1849 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 47
1850 c ORF035 Orofaciodigital Syndrome Iv 47
1851 ARM010 Arima Syndrome 46
1852 c ORF033 Orofaciodigital Syndrome V 44
1853 c ORF043 Orofaciodigital Syndrome Ix 37
1854 VRH001 Verheij Syndrome 36
1855 c RBN008 Rubinstein-Taybi Syndrome 2 36
1856 c ORF038 Orofaciodigital Syndrome Iii 33
1857 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 33
1858 c ORF036 Orofaciodigital Syndrome Xiv 30
1859 c ORF041 Orofaciodigital Syndrome X 26
1860 c ORF042 Orofaciodigital Syndrome Xi 24
1861 c ORF046 Orofaciodigital Syndrome Xvi 24
1862 c ORF052 Orofaciodigital Syndrome Xviii 23
1863 c ORF051 Orofaciodigital Syndrome Xvii 23
1864 c ORF045 Orofaciodigital Syndrome Xv 21
1865 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 21
1866 c ORF039 Orofaciodigital Syndrome Vii 20
1867 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1868 c ACQ026 Acquired Pseudoxanthoma Elasticum 13
1869 c ORF006 Orofaciodigital Syndrome 13 13
1870 c ORF005 Orofaciodigital Syndrome 12 13
1871 c PLR018 Pleuropulmonary Blastoma Type 1 9
1872 c PLR020 Pleuropulmonary Blastoma Type 3 8
1873 c PLR019 Pleuropulmonary Blastoma Type 2 7
1874 c NRF023 Neurofibromatosis, Type Ii 80
1875 c NRF024 Neurofibromatosis, Type I 77
1876 c MCP050 Mucopolysaccharidosis, Type Ii 72
1877 P MCP040 Mucopolysaccharidosis-Plus Syndrome 69
1878 c MCP052 Mucopolysaccharidosis, Type Vi 67
1879 c MCP001 Mucopolysaccharidosis Iii 65
1880 DGR001 Digeorge Syndrome 64
1881 c MCP049 Mucopolysaccharidosis, Type Vii 63
1882 NRM019 Neuraminidase Deficiency 62
1883 c MCP043 Mucopolysaccharidosis, Type Iiia 61
1884 c MCP047 Mucopolysaccharidosis, Type Iva 61
1885 c MCP045 Mucopolysaccharidosis, Type Iiic 59
1886 c MCP044 Mucopolysaccharidosis, Type Iiib 59
1887 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1888 c MCP004 Mucopolysaccharidosis Iv 57
1889 c GLC112 Galactosemia Iii 56
1890 P NRF002 Neurofibromatosis 56
1891 c MCP048 Mucopolysaccharidosis, Type Ivb 52
1892 c MCP046 Mucopolysaccharidosis, Type Iiid 51
1893 RYN003 Reynolds Syndrome 46
1894 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1895 c MCP051 Mucopolysaccharidosis, Type Ix 40
1896 GRN037 Granulomatosis with Polyangiitis 65
1897 P GLC113 Galactosemia I 64
1898 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61
1899 STR094 Stromme Syndrome 41



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