Nephrological Diseases Category (1662 diseases)


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

# Family MCID Name MIFTS
1 P MPL001 Maple Syrup Urine Disease 64
2 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57
3 P BLD134 Bladder Cancer 70
4 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 67
5 PPL048 Papillorenal Syndrome 50
6 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 39
7 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 31
8 NPH091 Nephrolithiasis, Calcium Oxalate 54
9 P HYP761 Hypouricemia, Renal, 1 40
10 c NPH055 Nephrotic Syndrome, Type 1 50
11 DNB001 Danubian Endemic Familial Nephropathy 47
12 c HYP534 Hypomagnesemia 3, Renal 37
13 c NPH102 Nephrotic Syndrome, Type 14 27
14 IGG001 Iga Glomerulonephritis 58
15 PRL032 Perlman Syndrome 43
16 P DNT020 Dent Disease 1 59
17 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 41
18 CNG116 Congenital Nephrotic Syndrome Finnish Type 19
19 P HYP210 Hypomagnesemia 2, Renal 34
20 P MMB011 Membranous Nephropathy 59
21 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 53
22 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 18
23 P ALP004 Alport Syndrome 64
24 SML031 Small Cell Carcinoma of the Bladder 36
25 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 24
26 c WLM013 Wilms Tumor 1 68
27 P MCK013 Meckel Syndrome, Type 1 62
28 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
29 c MCK012 Meckel Syndrome, Type 6 44
30 c MCK031 Meckel Syndrome, Type 2 39
31 P HRD009 Hereditary Wilms' Tumor 38
32 c MCK014 Meckel Syndrome, Type 5 37
33 c MCK030 Meckel Syndrome, Type 7 36
34 c MCK028 Meckel Syndrome 13 27
35 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
36 c MCK035 Meckel Syndrome, Type 10 26
37 c MCK026 Meckel Syndrome 12 24
38 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 22
39 c WLM005 Wilms Tumor 2 22
40 c MCK020 Meckel Syndrome, Type 11 21
41 c WLM017 Wilms Tumor 4 19
42 c WLM015 Wilms Tumor 3 16
43 c FML094 Familial Wilms Tumor 2 7
44 NRG002 Neurogenic Bladder 51
45 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 29
46 RNL051 Renal Cysts and Diabetes Syndrome 53
47 P KDN018 Kidney Disease 71
48 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 45
49 c NPH049 Nephrotic Syndrome, Type 2 42
50 c MCR113 Microvascular Complications of Diabetes 3 58
51 EXS017 Exstrophy of Bladder 46
52 P RNL100 Renal Hypodysplasia/aplasia 1 58
53 BLD044 Bladder Disease 57
54 RNL024 Renal Glucosuria 54
55 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 28
56 URN009 Urinary System Disease 59
57 P URF003 Urofacial Syndrome 1 44
58 LPD004 Lipoid Nephrosis 51
59 P SNR003 Senior-Loken Syndrome 1 55
60 P GLL032 Galloway-Mowat Syndrome 45
61 CKT002 Cakut 42
62 c GLL038 Galloway-Mowat Syndrome 1 40
63 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 34
64 c GLL040 Galloway-Mowat Syndrome 3 28
65 c BKV001 Bk-Virus Nephropathy 26
66 c GLL041 Galloway-Mowat Syndrome 4 22
67 c GLL042 Galloway-Mowat Syndrome 5 22
68 c SNR011 Senior-Loken Syndrome 3 20
69 c GLL046 Galloway-Mowat Syndrome 7 18
70 c GLL043 Galloway-Mowat Syndrome 2 8
71 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 28
72 BLD131 Bladder Urothelial Carcinoma 62
73 P RNL028 Renal Tubular Dysgenesis 51
74 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 31
75 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 27
76 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 22
77 CYS036 Cystinosis, Nephropathic 50
78 P AML002 Amelogenesis Imperfecta 46
79 c AML044 Amelogenesis Imperfecta, Type Ig 44
80 c FML015 Familial Nephrotic Syndrome 43
81 c AML020 Amelogenesis Imperfecta, Type Iv 38
82 c AML061 Amelogenesis Imperfecta, Type Ie 33
83 c AML057 Amelogenesis Imperfecta, Type Iiia 33
84 c AML017 Amelogenesis Imperfecta, Type Ib 31
85 c NPH072 Nephrotic Syndrome, Type 7 30
86 c AML047 Amelogenesis Imperfecta, Type Ia 22
87 c AML048 Amelogenesis Imperfecta, Type Ih 21
88 c AML050 Amelogenesis Imperfecta, Type if 20
89 c AML018 Amelogenesis Imperfecta, Type Ic 20
90 c AML056 Amelogenesis Imperfecta, Type Iiib 16
91 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
92 c AML064 Amelogenesis Imperfecta, Type Iiic 12
93 c AML063 Amelogenesis Imperfecta Type 2a1 11
94 P NPH005 Nephronophthisis 55
95 c NPH054 Nephrotic Syndrome, Type 3 36
96 RNL039 Renal Dysplasia-Limb Defects Syndrome 25
97 c NPH070 Nephrotic Syndrome, Type 6 37
98 c CHR089 Chronic Kidney Failure 73
99 c RNL113 Renal Failure, Progressive, with Hypertension 30
100 c FCL082 Focal Segmental Glomerulosclerosis 4 22
101 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 21
102 c FCL053 Focal Segmental Glomerulosclerosis 8 19
103 c FCL055 Focal Segmental Glomerulosclerosis 9 18
104 MLT033 Multicentric Osteolysis Nephropathy 10
105 BLD029 Bladder Dome Cancer 8
106 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 6
107 c WLM018 Wilms Tumor 5 64
108 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
109 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
110 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
111 P MTC010 Mitochondrial Dna Depletion Syndrome 41
112 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
113 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
114 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
115 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
116 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
117 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
118 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
119 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
120 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
121 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 25
122 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
123 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
124 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
125 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
126 c MTC014 Mitochondrial Dna Deletion Syndromes 15
127 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
128 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
129 P INT143 Interstitial Cystitis 66
130 c NPH019 Nephronophthisis 1 44
131 SPR001 Superficial Urinary Bladder Cancer 32
132 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 21
133 HMR004 Hemorrhagic Fever with Renal Syndrome 56
134 P RNL007 Renal Tubular Acidosis 51
135 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
136 c NPH030 Nephronophthisis 2 45
137 LWC001 Low Compliance Bladder 38
138 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37
139 BLD049 Bladder Transitional Cell Papilloma 37
140 NPH078 Nephrolithiasis, Uric Acid 30
141 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 29
142 NPH002 Nephrogenic Adenoma of Urinary Bladder 25
143 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 22
144 c HYP302 Hypomagnesemia 4, Renal 17
145 BLD026 Bladder Trigone Cancer 7
146 c CNG029 Congenital Mesoblastic Nephroma 44
147 PRS055 Pierson Syndrome 42
148 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 22
149 c HYP376 Hypouricemia, Renal, 2 22
150 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 9
151 c ACT068 Acute Cystitis 56
152 P IGN003 Iga Nephropathy 1 41
153 BLD047 Bladder Squamous Cell Carcinoma 40
154 c BLD008 Bladder Carcinoma in Situ 40
155 c CHR087 Chronic Cystitis 25
156 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
157 RRM005 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 11
158 P RNL017 Renal Oncocytoma 50
159 c NPH032 Nephronophthisis 4 38
160 RNL018 Renal Pelvis Carcinoma 37
161 URN022 Urinary Tract Infections, Recurrent 34
162 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 33
163 P RNL115 Renal Tubular Acidosis, Proximal 31
164 JBR007 Joubert Syndrome with Renal Anomalies 29
165 c NPH095 Nephrotic Syndrome, Type 11 23
166 c NPH096 Nephrotic Syndrome, Type 12 21
167 c HYP445 Hypomagnesemia 6, Renal 19
168 BRC111 Brachymesomelia-Renal Syndrome 14
169 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 10
170 URN005 Urinary Bladder Villous Adenoma 7
171 JWT001 Jewett-Marshall Bladder Cancer 7
172 P AMY004 Amyloidosis 64
173 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
174 c ALM001 Al Amyloidosis 55
175 c AMY009 Amyloidosis Aa 55
176 URN003 Urinary Schistosomiasis 50
177 NPH003 Nephrocalcinosis 50
178 c HRD039 Hereditary Amyloidosis 48
179 c MCR112 Microvascular Complications of Diabetes 2 42
180 c NPH047 Nephrotic Syndrome, Type 4 25
181 BLD025 Bladder Sarcoma 24
182 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 23
183 c NPH074 Nephrotic Syndrome, Type 9 22
184 c NPH103 Nephrotic Syndrome, Type 15 22
185 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
186 c PRM150 Primary Localized Amyloidosis 20
187 c AHM002 Ah Amyloidosis 16
188 P NPH012 Nephrotic Syndrome 63
189 c ACT071 Acute Kidney Failure 54
190 DNY001 Denys-Drash Syndrome 54
191 RNL094 Renal Dysplasia, Cystic 37
192 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
193 OLG021 Oligomeganephronia 35
194 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 26
195 c NPH073 Nephrotic Syndrome, Type 8 24
196 THY044 Thymic-Renal-Anal-Lung Dysplasia 14
197 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 10
198 c RNL122 Renal Hypodysplasia/aplasia 3 53
199 P RNL045 Renal Tubular Acidosis, Distal 45
200 c BRN131 Branchiootorenal Syndrome 1 41
201 c NPH031 Nephronophthisis 3 41
202 BLD009 Bladder Neck Obstruction 38
203 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 34
204 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 27
205 CHR176 Chromophil Renal Cell Carcinoma 25
206 BLD046 Bladder Papillary Transitional Cell Neoplasm 25
207 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
208 c NPH076 Nephrotic Syndrome, Type 10 19
209 c NPH105 Nephrotic Syndrome, Type 17 19
210 c NPH107 Nephrotic Syndrome, Type 19 19
211 c NPH104 Nephrotic Syndrome, Type 16 19
212 c NPH106 Nephrotic Syndrome, Type 18 18
213 c NPH093 Nephrotic Syndrome, Type 13 17
214 APM002 Aapoai Amyloidosis 16
215 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 15
216 APM001 Aapoaii Amyloidosis 14
217 BLD003 Bladder Lateral Wall Cancer 13
218 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
219 PLY043 Polyomavirus Allograft Nephropathy 12
220 URN004 Urinary Bladder Inverted Papilloma 9
221 SPL022 Split Hand Urinary Anomalies Spina Bifida 8
222 BLD027 Bladder Neck Cancer 7
223 HST012 Histidinuria Renal Tubular Defect 6
224 P URN007 Urinary Bladder Anterior Wall Cancer 6
225 c URN006 Urinary Bladder Posterior Wall Cancer 6
226 c BRN138 Branchiootorenal Spectrum Disorder 5
227 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
228 RDR001 Radio Renal Syndrome 4
229 CYS013 Cystinuria 64
230 CYS039 Cystic Kidney Disease 55
231 PRN038 Prune Belly Syndrome 54
232 c MCR120 Microvascular Complications of Diabetes 7 46
233 P BRN006 Branchiootorenal Syndrome 46
234 c MCR133 Microvascular Complications of Diabetes 4 43
235 c MCR130 Microvascular Complications of Diabetes 6 43
236 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 40
237 c JVN041 Juvenile Nephronophthisis 36
238 c NPH075 Nephronophthisis 18 35
239 c NPH035 Nephronophthisis 9 35
240 NPH037 Nephronophthisis-Like Nephropathy 1 24
241 NPH009 Nephrolithiasis 58
242 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 52
243 OBS082 Obstructive Nephropathy 52
244 P RNL015 Renal Hypertension 49
245 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
246 P PSD003 Pseudohypoaldosteronism 46
247 NPH010 Nephrosclerosis 45
248 c PSD092 Pseudohypoaldosteronism, Type Iie 39
249 RNL021 Renal Tubular Transport Disease 38
250 c PSD090 Pseudohypoaldosteronism, Type Iia 31
251 CYS045 Cystinosis, Adult Nonnephropathic 26
252 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 26
253 c PSD093 Pseudohypoaldosteronism, Type Iid 25
254 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 23
255 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 22
256 c PSD094 Pseudohypoaldosteronism, Type Iib 21
257 BLD023 Bladder Leiomyoma 19
258 c PSD068 Pseudohypoaldosteronism, Type Iic 19
259 c TRN053 Transient Pseudohypoaldosteronism 19
260 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 16
261 DNT019 Daentl Towsend Siegel Syndrome 11
262 GTL001 Gitelman Syndrome 62
263 FNC009 Fanconi-Bickel Syndrome 53
264 P FNC004 Fanconi Syndrome 52
265 ACT003 Acute Kidney Tubular Necrosis 44
266 RNL097 Renal Artery Disease 42
267 RNL012 Renal Tuberculosis 41
268 c NPH053 Nephronophthisis 11 40
269 FML029 Familial Renal Papillary Carcinoma 38
270 INV004 Invasive Bladder Transitional Cell Carcinoma 38
271 c NPH077 Nephronophthisis 19 37
272 DCR008 Dicarboxylic Aminoaciduria 37
273 c FNC059 Fanconi-Like Syndrome 36
274 RHY001 Rhyns Syndrome 35
275 c NPH068 Nephronophthisis 16 35
276 BLD045 Bladder Diverticulum 34
277 c NPH033 Nephronophthisis 7 34
278 BLD041 Bladder Calculus 34
279 NPH001 Nephrogenic Adenoma 33
280 BLD028 Bladder Lymphoma 33
281 c NPH065 Nephronophthisis 13 32
282 HNM002 Hinman Syndrome 31
283 c NPH069 Nephronophthisis 15 31
284 c INF147 Infantile Nephronophthisis 31
285 ACT043 Acute Urate Nephropathy 28
286 RNL008 Renal Artery Atheroma 27
287 c PRM200 Primary Fanconi Syndrome 26
288 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 25
289 RNL089 Renal Nutcracker Syndrome 23
290 RNL019 Renal Pelvis Transitional Cell Carcinoma 22
291 c NPH067 Nephronophthisis 12 20
292 c RNL099 Renal Hypodysplasia/aplasia 2 19
293 BLD065 Blue Diaper Syndrome 19
294 LGH017 Leigh Syndrome with Nephrotic Syndrome 18
295 RDL030 Radial-Renal Syndrome 17
296 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 16
297 c MLG055 Malignant Cystic Nephroma 15
298 AFB003 Afib Amyloidosis 14
299 INB002 Inborn Renal Aminoaciduria 11
300 P BNG003 Benign Hypertensive Renal Disease 7
301 ACR045 Acro-Pectoro-Renal Field Defect 6
302 BLD022 Bladder Flat Intraepithelial Lesion 5
303 P JBR020 Joubert Syndrome 1 69
304 P FCL005 Focal Segmental Glomerulosclerosis 60
305 c VSC019 Vesicoureteral Reflux 1 58
306 NPH018 Nephrogenic Systemic Fibrosis 55
307 JBR006 Joubert Syndrome with Oculorenal Anomalies 43
308 c JBR024 Joubert Syndrome 14 43
309 c JBR015 Joubert Syndrome 6 42
310 P CYS007 Cystic Nephroma 39
311 KDN006 Kidney Papillary Necrosis 37
312 c JBR025 Joubert Syndrome 17 35
313 c JBR041 Joubert Syndrome 3 34
314 c DNT021 Dent Disease 2 34
315 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
316 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 32
317 c JBR022 Joubert Syndrome 20 32
318 P FML284 Familial Vesicoureteral Reflux 31
319 c NPH071 Nephronophthisis 14 30
320 c JBR014 Joubert Syndrome 9 29
321 c JBR026 Joubert Syndrome 15 28
322 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 27
323 c JBR016 Joubert Syndrome 10 27
324 c JBR031 Joubert Syndrome 21 27
325 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
326 c JBR013 Joubert Syndrome 8 26
327 c JBR018 Joubert Syndrome 4 26
328 c JBR042 Joubert Syndrome 23 25
329 c JBR030 Joubert Syndrome 22 25
330 c JBR037 Joubert Syndrome 26 25
331 c JBR035 Joubert Syndrome 24 23
332 c JBR039 Joubert Syndrome 28 23
333 c JBR021 Joubert Syndrome 18 23
334 c JBR027 Joubert Syndrome 16 22
335 c JBR040 Joubert Syndrome 30 22
336 c JBR047 Joubert Syndrome 35 22
337 c JBR043 Joubert Syndrome 32 22
338 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
339 c JBR028 Joubert Syndrome 13 22
340 c JBR045 Joubert Syndrome 33 21
341 c JBR044 Joubert Syndrome 31 21
342 c JBR038 Joubert Syndrome 27 20
343 CRM007 Crome Syndrome 20
344 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
345 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
346 c NPH086 Nephronophthisis 20 19
347 c IGN004 Iga Nephropathy 3 18
348 BLD030 Bladder Tuberculosis 16
349 c VSC043 Vesicoureteral Reflux 6 12
350 c VSC042 Vesicoureteral Reflux 5 11
351 c VSC040 Vesicoureteral Reflux 4 10
352 c VSC041 Vesicoureteral Reflux 7 10
353 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
354 SLC010 Salcedo Syndrome 7
355 CRN239 Carnitine Deficiency, Systemic Primary 54
356 IMN001 Iminoglycinuria 43
357 RNL078 Renal Dysplasia 42
358 P MDL008 Medullary Cystic Kidney Disease 1 35
359 P FNC026 Fanconi Renotubular Syndrome 1 32
360 ACR102 Acrorenal-Mandibular Syndrome 28
361 LWR004 Lower Urinary Tract Calculus 25
362 STN006 Steinfeld Syndrome 24
363 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 22
364 c FNC049 Fanconi Renotubular Syndrome 3 20
365 c BRN086 Branchiootorenal Syndrome 2 19
366 c FNC034 Fanconi Renotubular Syndrome 2 19
367 BTM003 Beta-Aminoisobutyric Aciduria 17
368 DNM003 Daneman Davy Mancer Syndrome 11
369 STK001 Saito Kuba Tsuruta Syndrome 9
370 P GLL020 Gallbladder Disease 62
371 END030 End Stage Renal Failure 60
372 URN010 Urinary Tract Obstruction 58
373 FRS002 Frasier Syndrome 55
374 CYS010 Cystinosis 53
375 MDL009 Medullary Sponge Kidney 46
376 c GLL024 Gallbladder Disease 1 45
377 c HYP794 Hyperoxaluria, Primary, Type I 45
378 HYP348 Hyperglycinuria 38
379 HYP114 Hypertensive Nephropathy 37
380 MRC004 Murcs Association 32
381 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
382 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 29
383 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 28
384 P HRD020 Hereditary Renal Cell Carcinoma 27
385 c GLL027 Gallbladder Disease 4 26
386 PLY179 Polyomavirus-Associated Nephropathy 24
387 RNL013 Renal Adenoma 23
388 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 22
389 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 22
390 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 22
391 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
392 c URF002 Urofacial Syndrome 2 19
393 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 19
394 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 18
395 ERY007 Erythropoietin Polycythemia 17
396 c IGN002 Iga Nephropathy 2 17
397 BLT020 Bilateral Multicystic Dysplastic Kidney 17
398 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 17
399 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 17
400 NPH008 Nephrogenic Adenoma of the Urethra 15
401 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 15
402 c RNL117 Renal Tubular Acidosis Iii 14
403 MLT112 Multiloculated Renal Cyst 14
404 HST019 Histidinuria Due to a Renal Tubular Defect 13
405 c GLL025 Gallbladder Disease 2 12
406 c GLL026 Gallbladder Disease 3 12
407 BLR029 Biliary Malformation with Renal Tubular Insufficiency 12
408 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 11
409 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 11
410 SCN001 Secondary Hyperparathyroidism of Renal Origin 11
411 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 11
412 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 11
413 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 10
414 RNL036 Renal Dysplasia Diffuse Cystic 10
415 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 10
416 c RNR002 Ren-Related Kidney Disease 10
417 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 9
418 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 9
419 URN021 Urinary Bladder, Atony of 9
420 URT023 Ureteric Orifice Cancer 9
421 BLD012 Bladder Urothelial Papillary Carcinoma 9
422 NNN004 Non-Invasive Bladder Urothelial Carcinoma 8
423 BTM002 Beta-Amino Acids, Renal Transport of 8
424 NNT002 Neonatal Urinary Tract Infectious Disease 7
425 NPH025 Nephrotic Syndrome Ocular Anomalies 7
426 GRN023 Green Sandford Davison Syndrome 7
427 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
428 BLD011 Bladder Verrucous Squamous Cell Carcinoma 6
429 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 6
430 LNG042 Langer Nishino Yamaguchi Syndrome 6
431 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 6
432 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
433 JJN005 Jejunal Atresia with Renal Adysplasia 5
434 NNR001 Non-Renal Secondary Hyperparathyroidism 5
435 c BLT012 Bilateral Renal Agenesis Dominant Type 5
436 STN004 Stone in Bladder Diverticulum 4
437 DBL008 Double Uterus-Hemivagina-Renal Agenesis 3
438 OCL029 Oculo Skeletal Renal Syndrome 3
439 P MCR115 Microvascular Complications of Diabetes 5 70
440 P CTR002 Cataract 59
441 P CYS018 Cystitis 58
442 URM002 Uremia 53
443 ANR004 Anuria 49
444 URT031 Ureteral Disease 47
445 HST006 Histidinemia 44
446 c CTR130 Cataract 9, Multiple Types 41
447 c CTR098 Cataract 1, Multiple Types 41
448 c JBR004 Joubert Syndrome 2 40
449 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 38
450 c CTR103 Cataract 4, Multiple Types 37
451 c CTR118 Cataract 14, Multiple Types 36
452 c CTR170 Cataract 30, Multiple Types 36
453 c CTR115 Cataract 16, Multiple Types 35
454 c CTR141 Cataract 21, Multiple Types 35
455 c CTR122 Cataract 5, Multiple Types 35
456 c CTR125 Cataract 7 33
457 c CTR145 Cataract 44 33
458 c CTR102 Cataract 2, Multiple Types 33
459 c CTR096 Cataract 6, Multiple Types 33
460 c CTR132 Cataract 3, Multiple Types 32
461 c CTR158 Cataract 37 31
462 c CTR129 Cataract 31, Multiple Types 30
463 c CTR095 Cataract 8, Multiple Types 30
464 c CTR174 Cataract 40 30
465 c CTR113 Cataract 11, Multiple Types 28
466 c CTR175 Cataract 24 27
467 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 25
468 c CTR169 Cataract 29 25
469 c CTR166 Cataract 33, Multiple Types 25
470 c CTR116 Cataract 15, Multiple Types 25
471 c CTR131 Cataract 17, Multiple Types 24
472 c CTR181 Cataract 18 24
473 ARD001 Aredyld 24
474 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 24
475 c CTR162 Cataract 47 24
476 P C1Q005 C1q Nephropathy 24
477 BLD040 Bladder Benign Neoplasm 24
478 c CTR124 Cataract 10, Multiple Types 23
479 c CTR180 Cataract 22, Multiple Types 23
480 c CTR165 Cataract 19, Multiple Types 23
481 c CTR119 Cataract 32, Multiple Types 23
482 c CTR105 Cataract 12, Multiple Types 23
483 c CTR184 Cataract 39, Multiple Types 22
484 WBB001 Webb-Dattani Syndrome 22
485 c CTR097 Cataract 34, Multiple Types 21
486 c CTR182 Cataract 23, Multiple Types 21
487 c CTR111 Cataract 36 21
488 c CTR136 Cataract 41 21
489 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 21
490 c CTR183 Cataract 38 20
491 c CTR159 Cataract 35 20
492 c CTR185 Cataract 30 20
493 c CTR106 Cataract 20, Multiple Types 19
494 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 19
495 c CTR163 Cataract 46, Juvenile-Onset 19
496 c CTR121 Cataract 25 19
497 c CTR110 Cataract 26, Multiple Types 19
498 c CTR144 Cataract 43 18
499 c CTR157 Cataract 28 18
500 c CTR139 Cataract 42 18
501 c CTR160 Cataract 45 18
502 c CTR178 Cataract 27 17
503 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 17
504 c CTR025 Cataract, Total Congenital 17
505 c CTR187 Cataract 48 16
506 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 15
507 c CTR128 Cataract 33 14
508 MPL011 Maple Syrup Urine Disease, Mild Variant 13
509 SQL002 Squalene Synthase Deficiency 12
510 ACT006 Acute Gonococcal Cystitis 10
511 c CTR008 Cataract Congenital Autosomal Dominant 8
512 P PLY014 Polycystic Kidney Disease 62
513 P CRN108 Cranioectodermal Dysplasia 1 55
514 P BRT004 Bartter Disease 53
515 INT067 Interstitial Nephritis 52
516 LYS003 Lysinuric Protein Intolerance 51
517 RNL077 Renal Fibrosis 51
518 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
519 c LTH008 Lethal Congenital Contracture Syndrome 2 46
520 KRN001 Korean Hemorrhagic Fever 46
521 c BRT042 Bartter Syndrome, Type 3 44
522 MLT084 Multicystic Dysplastic Kidney 43
523 CYS019 Cystathioninuria 42
524 URT004 Urethral Syndrome 42
525 c XNT010 Xanthinuria, Type I 41
526 c LTH007 Lethal Congenital Contracture Syndrome 1 41
527 RNL025 Renal Hypoplasia 40
528 c WLM011 Wilms Tumor 6 40
529 P XNT004 Xanthinuria 40
530 PLV001 Pelvic Lipomatosis 35
531 PYR004 Pyuria 35
532 c HRD142 Hereditary Xanthinuria 34
533 c XNT011 Xanthinuria, Type Ii 34
534 KDN001 Kidney Cortex Necrosis 34
535 c HYP603 Hyperoxaluria, Primary, Type Iii 33
536 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
537 P LTH003 Lethal Congenital Contracture Syndrome 31
538 c LTH039 Lethal Congenital Contracture Syndrome 11 26
539 c LTH027 Lethal Congenital Contracture Syndrome 5 26
540 c CRN110 Cranioectodermal Dysplasia 3 26
541 c CRN111 Cranioectodermal Dysplasia 4 26
542 c JBR011 Joubert Syndrome 7 26
543 c LTH031 Lethal Congenital Contracture Syndrome 6 25
544 c LTH042 Lethal Congenital Contracture Syndrome 10 24
545 c FCL043 Focal Segmental Glomerulosclerosis 6 24
546 c LTH047 Lethal Congenital Contracture Syndrome 3 23
547 c LTH032 Lethal Congenital Contracture Syndrome 7 23
548 P PNT006 Pentosuria 23
549 BRN134 Brain Malformations with or Without Urinary Tract Defects 23
550 c LTH029 Lethal Congenital Contracture Syndrome 9 23
551 c MDL021 Medullary Cystic Kidney Disease 2 23
552 c LTH030 Lethal Congenital Contracture Syndrome 8 22
553 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 22
554 THV001 Thauvin-Robinet-Faivre Syndrome 22
555 c BRT024 Bartter Syndrome Type 4 21
556 BLT024 Bilateral Renal Aplasia 21
557 c LTH026 Lethal Congenital Contracture Syndrome 4 20
558 BRK013 Birk-Landau-Perez Syndrome 19
559 c VSC025 Vesicoureteral Reflux 3 18
560 c VSC046 Vesicoureteral Reflux 8 18
561 c ESS007 Essential Pentosuria 18
562 CFH006 Cfhr5 Deficiency 17
563 STR095 Structural Heart Defects and Renal Anomalies Syndrome 17
564 c VSC020 Vesicoureteral Reflux 2 16
565 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 12
566 c PLY176 Polycystic Kidney Disease 4 8
567 ELL004 Ellis Yale Winter Syndrome 7
568 LCH006 Lachiewicz Sibley Syndrome 5
569 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 5
570 c HRD010 Hereditary Spastic Paraplegia 68
571 P END044 Endometriosis 65
572 P BRD002 Bardet-Biedl Syndrome 63
573 SPT004 Septic Arthritis 61
574 c PRC016 Pre-Eclampsia 61
575 c BRD010 Bardet-Biedl Syndrome 1 59
576 P ECL001 Eclampsia 58
577 P CTS001 Cutis Laxa 58
578 c PSD108 Pseudohypoparathyroidism, Type Ia 56
579 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
580 LMY014 Leiomyoma, Uterine 56
581 c SVR005 Severe Pre-Eclampsia 55
582 c MLG074 Malignant Mesenchymoma 54
583 PRS129 Prostatic Hyperplasia, Benign 53
584 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
585 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
586 P PSD015 Pseudohypoparathyroidism 51
587 c FCL025 Focal Segmental Glomerulosclerosis 1 51
588 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
589 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
590 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
591 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
592 KDN015 Kidney Angiomyolipoma 49
593 c BRD013 Bardet-Biedl Syndrome 12 48
594 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
595 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
596 LGH004 Light Chain Deposition Disease 47
597 GLY014 Glycerol Kinase Deficiency 47
598 MSN001 Mesangial Proliferative Glomerulonephritis 46
599 c BRD020 Bardet-Biedl Syndrome 8 45
600 P HRD086 Hereditary Hypophosphatemic Rickets 45
601 INV006 Inverted Papilloma 45
602 c BRD033 Bardet-Biedl Syndrome 13 45
603 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
604 SLR001 Sialuria 44
605 RTR011 Retroperitoneal Fibrosis 44
606 c BRD018 Bardet-Biedl Syndrome 6 44
607 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
608 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
609 c BRD048 Bardet-Biedl Syndrome 18 42
610 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
611 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
612 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
613 c BRD035 Bardet-Biedl Syndrome 15 42
614 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
615 HMR023 Hemorrhagic Cystitis 41
616 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
617 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
618 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
619 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
620 FRY002 Fryns Syndrome 41
621 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
622 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
623 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
624 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
625 c PSD117 Pseudohypoparathyroidism, Type Ic 40
626 P MSN006 Mesenchymoma 40
627 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
628 DFF021 Diffuse Mesangial Sclerosis 40
629 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
630 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
631 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
632 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
633 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
634 c HYP602 Hyperoxaluria, Primary, Type Ii 38
635 c MYG007 Myoglobinuria, Recurrent 38
636 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 38
637 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
638 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
639 FML031 Female Stress Incontinence 37
640 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
641 c ATS018 Autosomal Recessive Alport Syndrome 37
642 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
643 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
644 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
645 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
646 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
647 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
648 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
649 c ATS015 Autosomal Dominant Alport Syndrome 35
650 CLL007 Cellular Congenital Mesoblastic Nephroma 35
651 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
652 P SPS012 Spastic Paraplegia 3a 35
653 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
654 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
655 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
656 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
657 MLK004 Malakoplakia 34
658 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
659 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
660 c PSD104 Pseudohypoparathyroidism, Type Ii 34
661 P XLN231 X-Linked Alport Syndrome 34
662 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
663 c SPS039 Spastic Paraplegia 5a 33
664 c ORT011 Orthostatic Hypotension 1 33
665 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
666 c ORT012 Orthostatic Hypotension 2 33
667 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
668 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
669 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
670 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
671 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
672 c SPS091 Spastic Paraplegia 4 31
673 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
674 RNL001 Renal Artery Obstruction 31
675 c ACQ027 Acquired Cutis Laxa 31
676 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
677 P ADL014 Adult Mesoblastic Nephroma 31
678 c SPS021 Spastic Paraplegia 10 30
679 HWK001 Hawkinsinuria 30
680 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
681 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
682 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
683 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
684 CLR112 Clear Cell Papillary Renal Cell Carcinoma 29
685 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
686 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
687 c SPS092 Spastic Paraplegia 11 29
688 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
689 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
690 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
691 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
692 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
693 c SPS025 Spastic Paraplegia 15 28
694 P RNL123 Renal Agenesis, Bilateral 28
695 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
696 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
697 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
698 c HRD186 Hereditary Spastic Paraplegia 51 28
699 IMP003 Impaired Renal Function Disease 27
700 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
701 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
702 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
703 c BRD050 Bardet-Biedl Syndrome 21 27
704 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
705 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
706 c SPS027 Spastic Paraplegia 17 27
707 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
708 EPT005 Epithelial Predominant Wilms' Tumor 26
709 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
710 NPH006 Nephrogenic Adenofibroma 26
711 5XP001 5-Oxoprolinase Deficiency 26
712 P PRM227 Primary Orthostatic Hypotension 25
713 HYD030 Hydroxykynureninuria 25
714 c SPS020 Spastic Paraplegia 1 25
715 c SPS041 Spastic Paraplegia 6 25
716 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
717 c BRD051 Bardet-Biedl Syndrome 20 24
718 CMB011 Combined Malonic and Methylmalonic Aciduria 24
719 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
720 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 24
721 c SPS023 Spastic Paraplegia 13 24
722 c SPS042 Spastic Paraplegia 9 23
723 GLT014 Glutathionuria 23
724 c MLG004 Malignant Hypertensive Renal Disease 23
725 HYP683 Hypogonadism-Cataract Syndrome 22
726 c SPS037 Spastic Paraplegia 31 22
727 c INT262 Intermediate Maple Syrup Urine Disease 22
728 FRS010 Forsythe-Wakeling Syndrome 22
729 c SPS028 Spastic Paraplegia 18 22
730 URC005 Urachal Cyst 22
731 c SPS034 Spastic Paraplegia 26 22
732 c ATP003 Atp6v0a2-Related Cutis Laxa 22
733 c BNG012 Benign Mesenchymoma 21
734 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 21
735 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
736 c FCL026 Focal Segmental Glomerulosclerosis 2 21
737 c SNR016 Senior-Loken Syndrome 9 21
738 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 21
739 c SPS022 Spastic Paraplegia 12 20
740 c END071 Endometriosis 1 20
741 HLZ001 Holzgreve Syndrome 20
742 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
743 c FCL027 Focal Segmental Glomerulosclerosis 3 20
744 TFR002 Tafro Syndrome 20
745 c SPS032 Spastic Paraplegia 24 20
746 c HRD210 Hereditary Spastic Paraplegia 23 20
747 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
748 c SNR005 Senior-Loken Syndrome 5 20
749 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
750 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
751 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
752 c FCL085 Focal Segmental Glomerulosclerosis 7 20
753 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
754 BRN121 Branchiootorenal/branchiootic Syndrome 19
755 c SPS033 Spastic Paraplegia 25 19
756 c SPS035 Spastic Paraplegia 29 19
757 c SPS038 Spastic Paraplegia 39 19
758 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
759 c SPS080 Spastic Paraplegia 51 19
760 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
761 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
762 c SPS026 Spastic Paraplegia 16 18
763 c FCL028 Focal Segmental Glomerulosclerosis 5 18
764 c SPS161 Spastic Paraplegia 32 18
765 c HRD188 Hereditary Spastic Paraplegia 72 18
766 UNL014 Unilateral Multicystic Dysplastic Kidney 18
767 c EFM001 Efemp2-Related Cutis Laxa 18
768 KDN004 Kidney Hemangiopericytoma 18
769 c FML028 Familial Renal Oncocytoma 18
770 c SPS024 Spastic Paraplegia 14 17
771 LBN003 Lubinsky Syndrome 17
772 c LTB003 Ltbp4-Related Cutis Laxa 17
773 MLY011 Maleylacetoacetate Isomerase Deficiency 17
774 VSC014 Vascular Hyalinosis 16
775 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 16
776 c MYG006 Myoglobinuria, Autosomal Dominant 16
777 NLP003 Nail-Patella-Like Renal Disease 16
778 MTH075 Methionine Malabsorption Syndrome 15
779 NPH097 Nephrosialidosis 15
780 c SPS040 Spastic Paraplegia 5b 15
781 LNP001 Loin Pain Hematuria Syndrome 15
782 RNL109 Renal Hypoplasia, Bilateral 15
783 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 14
784 c SPS230 Spastic Paraplegia Type 49 14
785 GLM024 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 14
786 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 14
787 c LTN020 Late-Onset Nephronophthisis 14
788 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 14
789 TBL026 Tubulocystic Renal Cell Carcinoma 14
790 c SPS165 Spastic Paraplegia 47 13
791 c ADL020 Adult Malignant Mesenchymoma 13
792 STR009 Stromal Predominant Kidney Wilms' Tumor 13
793 BLS005 Blastema Predominant Kidney Wilms' Tumor 13
794 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 13
795 PX2001 Pax2-Related Disorder 13
796 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 13
797 SNR014 Senior-Boichis Syndrome 13
798 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
799 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 12
800 SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 12
801 MXD009 Mixed Cell Type Kidney Wilms' Tumor 12
802 RNL116 Renal and Mullerian Duct Hypoplasia 12
803 c RNL016 Renal Infectious Disease 11
804 URT041 Urethral Obstruction Sequence 11
805 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 11
806 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
807 c RNL048 Renal Tubular Acidosis, Distal, Type 3 10
808 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 9
809 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 9
810 c FBL003 Fbln5-Related Cutis Laxa 9
811 RNL107 Renal Dysplasia, Bilateral 9
812 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 9
813 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
814 VCT003 Vacterl Hydrocephaly 9
815 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
816 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 8
817 NPH050 Nephropathy, Progressive, with Deafness 8
818 CHL044 Childhood Kidney Angiomyolipoma 8
819 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
820 KLL010 Kallikrein, Decreased Urinary Activity of 8
821 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 7
822 CNG337 Congenital Renal Artery Stenosis 7
823 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 7
824 RNL106 Renal Dysplasia, Unilateral 6
825 RNL108 Renal Hypoplasia, Unilateral 6
826 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
827 RNL010 Renal Pelvis Inverted Papilloma 6
828 KRN006 Karandikar Maria Kamble Syndrome 6
829 SLG001 Selig Benacerraf Greene Syndrome 6
830 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
831 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 6
832 HRD003 Hereditary Conventional Renal Cell Carcinoma 6
833 CLS004 Classic Congenital Mesoblastic Nephroma 5
834 BLD050 Bladder Urachal Carcinoma 5
835 BLD004 Bladder Urachal Urothelial Carcinoma 5
836 ALS004 Alsing Syndrome 5
837 DRG019 Drug-Related Renal Tubular Dysgenesis 5
838 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
839 c RNL049 Renal Tubular Acidosis, Distal, Type 4 5
840 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 5
841 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
842 SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
843 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 5
844 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 5
845 c MYG002 Myoglobinuria Dominant Form 5
846 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
847 RNL020 Renal Pelvis Urothelial Papilloma 4
848 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
849 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 4
850 FRS005 Fraser Jequier Chen Syndrome 4
851 BNR003 Ben Ari Shuper Mimouni Syndrome 4
852 SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
853 BLD024 Bladder Squamous Papilloma 4
854 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
855 NPH099 Nephropathy, Chronic Tubulointerstitial 3
856 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
857 ALL011 Allain-Babin-Demarquez Syndrome 3
858 GLY095 Glycoprotein, Renal 3
859 PLM171 Pulmonic Stenosis and Congenital Nephrosis 3
860 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
861 BLL008 Billet Bear Syndrome 3
862 RNL030 Renal Adysplasia Dominant Type 2
863 RNL031 Renal Agenesis Meningomyelocele Mullerian Defect 2
864 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 2
865 c SYS001 Systemic Lupus Erythematosus 88
866 MYL069 Myeloma, Multiple 85
867 P FNC027 Fanconi Anemia, Complementation Group a 81
868 P NNN008 Noonan Syndrome 1 78
869 P SRC025 Sarcoidosis 1 76
870 P NRF023 Neurofibromatosis, Type Ii 75
871 BHC003 Behcet Syndrome 74
872 VNH007 Von Hippel-Lindau Syndrome 72
873 P TRN020 Turner Syndrome 71
874 FBR012 Fabry Disease 71
875 P ALG028 Alagille Syndrome 1 70
876 P LPS004 Lupus Erythematosus 69
877 P TMP003 Temporal Arteritis 69
878 GRN037 Granulomatosis with Polyangiitis 69
879 SMT004 Smith-Lemli-Opitz Syndrome 68
880 P PSD087 Pseudoxanthoma Elasticum 68
881 P SYS005 Systemic Scleroderma 67
882 LWC002 Lowe Oculocerebrorenal Syndrome 66
883 c TBR026 Tuberous Sclerosis 2 66
884 TKY002 Takayasu Arteritis 66
885 c GLY008 Glycogen Storage Disease Ii 66
886 ADL030 Adult-Onset Still's Disease 65
887 c NNN010 Noonan Syndrome 3 65
888 P THL005 Thalassemia 65
889 P HML033 Hemolytic Uremic Syndrome, Atypical 1 64
890 c CNG411 Congenital Disorder of Glycosylation, Type in 64
891 WLL001 Williams-Beuren Syndrome 63
892 QFV001 Q Fever 63
893 PRP083 Porphyria, Acute Intermittent 63
894 LSC001 Lesch-Nyhan Syndrome 62
895 GT001 Gout 62
896 P GLY013 Glycogen Storage Disease 61
897 ALP103 Alpha-1-Antitrypsin Deficiency 61
898 HNC001 Henoch-Schoenlein Purpura 61
899 P GLM007 Glomerulonephritis 61
900 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
901 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 58
902 P PRM002 Primary Hyperoxaluria 58
903 c PRT132 Protoporphyria, Erythropoietic, 1 58
904 c FNC042 Fanconi Anemia, Complementation Group D2 58
905 c PRX045 Peroxisome Biogenesis Disorder 1b 58
906 PRP082 Porphyria, Congenital Erythropoietic 57
907 PRP032 Porphyria Variegata 57
908 P PYL005 Pyelonephritis 56
909 CPR004 Coproporphyria, Hereditary 56
910 GDP001 Goodpasture Syndrome 56
911 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 56
912 PLV003 Pelvic Inflammatory Disease 56
913 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
914 P DBT005 Diabetes Insipidus 55
915 MCR088 Microscopic Polyangiitis 55
916 c NNN012 Noonan Syndrome 5 55
917 P FNC044 Fanconi Anemia, Complementation Group C 54
918 P HYP726 Hypercalcemia, Infantile, 1 54
919 c NNN009 Noonan Syndrome 2 53
920 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 53
921 c OST163 Osteopetrosis, Autosomal Recessive 3 52
922 RGH009 Right Atrial Isomerism 52
923 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
924 HNT002 Hantavirus Pulmonary Syndrome 52
925 HYD002 Hydronephrosis 52
926 P RNV001 Renovascular Hypertension 52
927 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
928 BCT004 Bacteriuria 51
929 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
930 c BRD012 Bardet-Biedl Syndrome 11 51
931 MMB001 Membranoproliferative Glomerulonephritis 51
932 c PRX059 Peroxisome Biogenesis Disorder 1a 50
933 VTR016 Vater/vacterl Association 50
934 GLC004 Galactokinase Deficiency 50
935 FSH001 Fish-Eye Disease 50
936 c PST041 Posterior Urethral Valves 50
937 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
938 CTY001 Cat Eye Syndrome 50
939 HYP347 Hypotonia-Cystinuria Syndrome 50
940 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
941 c BRD044 Bardet-Biedl Syndrome 17 48
942 IDP073 Idiopathic Hypercalciuria 48
943 c 3MT015 3-Methylglutaconic Aciduria, Type I 48
944 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
945 P TYR004 Tyrosinemia 48
946 c FNC032 Fanconi Anemia, Complementation Group B 48
947 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
948 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 48
949 P RPD001 Rapidly Progressive Glomerulonephritis 47
950 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 47
951 PRS042 Prostate Disease 47
952 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 47
953 c ACT042 Acute Pyelonephritis 47
954 c BRD032 Bardet-Biedl Syndrome 14 47
955 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
956 c FNC028 Fanconi Anemia, Complementation Group L 46
957 HRT031 Hartnup Disorder 46
958 c 3MT014 3-Methylglutaconic Aciduria, Type V 46
959 c NNN013 Noonan Syndrome 6 45
960 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
961 c FNC029 Fanconi Anemia, Complementation Group I 45
962 c FNC045 Fanconi Anemia, Complementation Group F 45
963 GLC106 Glucocorticoid Resistance, Generalized 45
964 LPP002 Lipoprotein Glomerulopathy 45
965 VCT001 Vacterl Association 45
966 CRS001 Crescentic Glomerulonephritis 45
967 c BRD011 Bardet-Biedl Syndrome 10 44
968 c MCK032 Meckel Syndrome, Type 3 44
969 c BRT050 Bartter Syndrome, Type 2, Antenatal 44
970 c FNC057 Fanconi Anemia, Complementation Group U 44
971 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
972 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
973 P PRL003 Proliferative Glomerulonephritis 43
974 c TYR011 Tyrosinemia, Type Iii 43
975 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
976 c FNC025 Fanconi Anemia, Complementation Group J 43
977 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
978 URT001 Urethritis 42
979 c NNN011 Noonan Syndrome 4 42
980 c FNC023 Fanconi Anemia, Complementation Group N 42
981 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
982 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
983 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
984 AMN006 Aminoaciduria 41
985 c GLY023 Glycogen Storage Disease Type 0 41
986 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
987 c GLY098 Glycogen Storage Disease, Type Ixd 41
988 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
989 PYL004 Pyelitis 40
990 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
991 P MYG005 Myoglobinuria 40
992 HYP236 Hyperbilirubinemia, Rotor Type 40
993 c BRD017 Bardet-Biedl Syndrome 5 39
994 DNS007 Dense Deposit Disease 39
995 c CHR020 Chronic Interstitial Cystitis 39
996 c NNN021 Noonan Syndrome 8 39
997 c MCK033 Meckel Syndrome, Type 4 39
998 c NNN024 Noonan Syndrome 9 39
999 PTT002 Potter's Syndrome 39
1000 c VNM003 Van Maldergem Syndrome 1 39
1001 URT014 Ureterolithiasis 39
1002 HYP550 Hypomagnesemia 1, Intestinal 38
1003 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
1004 PDT035 Pediatric Systemic Lupus Erythematosus 38
1005 ACT040 Acute Poststreptococcal Glomerulonephritis 38
1006 P BRN042 Branchiootic Syndrome 38
1007 c FNC048 Fanconi Anemia, Complementation Group O 38
1008 c FNC062 Fanconi Anemia, Complementation Group S 38
1009 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
1010 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
1011 c OST126 Osteopetrosis, Autosomal Recessive 1 37
1012 P ANT061 Antenatal Bartter Syndrome 37
1013 c CHR098 Chronic Pyelonephritis 37
1014 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1015 c NNN025 Noonan Syndrome 10 37
1016 PRN007 Perinephritis 37
1017 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
1018 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
1019 INT258 Interstitial Nephritis, Karyomegalic 37
1020 c GLY016 Glycogen Storage Disease Ib 37
1021 URT016 Urethral Diverticulum 37
1022 c BRD045 Bardet-Biedl Syndrome 19 36
1023 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
1024 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1025 c ATM045 Autoimmune Glomerulonephritis 36
1026 OMS001 Omsk Hemorrhagic Fever 36
1027 c FNC047 Fanconi Anemia, Complementation Group Q 35
1028 c BRD047 Bardet-Biedl Syndrome 16 35
1029 c NNN020 Noonan Syndrome 7 35
1030 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1031 c FNC058 Fanconi Anemia, Complementation Group R 35
1032 c TYP024 Type Ii Mixed Cryoglobulinemia 35
1033 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1034 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
1035 CYS003 Cystitis Cystica 34
1036 c FNC052 Fanconi Anemia, Complementation Group T 34
1037 URT020 Ureterocele 34
1038 c SYS043 Systemic Lupus Erythematosus 1 34
1039 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
1040 HRS011 Horseshoe Kidney 34
1041 URT037 Urethral Stricture 34
1042 KLL014 Kelley-Seegmiller Syndrome 34
1043 ANT002 Anti-Basement Membrane Glomerulonephritis 34
1044 INF159 Infantile Sialic Acid Storage Disease 33
1045 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1046 c GLY057 Glycogen Storage Disease X 33
1047 P 3MT007 3-Methylglutaconic Aciduria 33
1048 c FNC056 Fanconi Anemia, Complementation Group V 33
1049 CLC011 Cloacal Exstrophy 33
1050 OSC001 Oeis Complex 33
1051 c CRN109 Cranioectodermal Dysplasia 2 33
1052 MTN001 Metanephric Adenoma 33
1053 c BRD019 Bardet-Biedl Syndrome 7 33
1054 c MCK034 Meckel Syndrome, Type 8 33
1055 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1056 c SPS036 Spastic Paraplegia 3 33
1057 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
1058 c JBR012 Joubert Syndrome 5 32
1059 CTN019 Cutaneous Polyarteritis Nodosa 32
1060 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
1061 c RBN008 Rubinstein-Taybi Syndrome 2 32
1062 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1063 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
1064 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1065 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
1066 c PRP091 Porphyria Cutanea Tarda, Type I 32
1067 DFF015 Diffuse Glomerulonephritis 31
1068 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
1069 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 31
1070 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1071 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1072 TBL025 Tubulointerstitial Nephritis with Uveitis 31
1073 XNT001 Xanthogranulomatous Pyelonephritis 31
1074 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 30
1075 c PRX056 Peroxisome Biogenesis Disorder 11b 30
1076 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
1077 MTH077 Methylmalonic Aciduria, Cbla Type 30
1078 EXD002 Exudative Glomerulonephritis 30
1079 P VNM004 Van Maldergem Syndrome 30
1080 ORT001 Orthostatic Proteinuria 30
1081 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
1082 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 30
1083 c GLY017 Glycogen Storage Disease Ic 30
1084 c OST120 Osteopetrosis, Autosomal Recessive 5 30
1085 STN013 Stenotrophomonas Maltophilia Infection 30
1086 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
1087 c ACT079 Acute Proliferative Glomerulonephritis 29
1088 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1089 TRG001 Trigonitis 29
1090 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1091 c PRX050 Peroxisome Biogenesis Disorder 9b 29
1092 c PRX048 Peroxisome Biogenesis Disorder 10a 29
1093 c PRX051 Peroxisome Biogenesis Disorder 6a 29
1094 c GLY043 Glycogen Storage Disease Xii 28
1095 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
1096 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
1097 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1098 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28
1099 c PRX054 Peroxisome Biogenesis Disorder 12a 28
1100 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
1101 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1102 c BRD021 Bardet-Biedl Syndrome 9 28
1103 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
1104 c BRN128 Branchiootic Syndrome 3 27
1105 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1106 c PRX065 Peroxisome Biogenesis Disorder 3a 27
1107 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1108 c PRX043 Peroxisome Biogenesis Disorder 6b 26
1109 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
1110 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 26
1111 RDT001 Radiation Cystitis 26
1112 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
1113 HYP648 Hypertension and Brachydactyly Syndrome 26
1114 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 26
1115 c PRX046 Peroxisome Biogenesis Disorder 7a 26
1116 c VNM002 Van Maldergem Syndrome 2 25
1117 FBR085 Fibrillary Glomerulonephritis 25
1118 c PRX057 Peroxisome Biogenesis Disorder 4a 25
1119 c SPS013 Spastic Paraplegia 8 25
1120 KDN013 Kidney Hypertrophy 25
1121 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
1122 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1123 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
1124 c PRX058 Peroxisome Biogenesis Disorder 4b 25
1125 c PRX047 Peroxisome Biogenesis Disorder 5b 25
1126 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 25
1127 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1128 SDH011 Sedoheptulokinase Deficiency 25
1129 c HML034 Hemolytic Uremic Syndrome, Atypical 3 24
1130 c PSD047 Pseudo-Turner Syndrome 24
1131 c MLG003 Malignant Renovascular Hypertension 24
1132 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 24
1133 c HML035 Hemolytic Uremic Syndrome, Atypical 2 24
1134 c PRX052 Peroxisome Biogenesis Disorder 13a 24
1135 URT011 Urethral Calculus 24
1136 c HML032 Hemolytic Uremic Syndrome, Atypical 4 24
1137 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
1138 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
1139 VCT004 Vacterl Association with Hydrocephalus 23
1140 HYP481 Hyperbiliverdinemia 23
1141 c JVN019 Juvenile Temporal Arteritis 23
1142 c GLY001 Glycogen Storage Disease Ix 23
1143 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1144 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
1145 c PRX062 Peroxisome Biogenesis Disorder 8b 23
1146 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
1147 c FNC061 Fanconi Anemia, Complementation Group W 23
1148 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 23
1149 AXL004 Axial Mesodermal Dysplasia Spectrum 23
1150 c TWN010 Townes-Brocks Syndrome 2 22
1151 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
1152 c SNR015 Senior-Loken Syndrome 8 22
1153 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 22
1154 c BRN073 Branchiootic Syndrome 2 22
1155 MSC089 Mosaic Monosomy X 22
1156 c SNR004 Senior-Loken Syndrome 4 22
1157 c MCK036 Meckel Syndrome, Type 9 22
1158 P ACR072 Acrorenal Syndrome 22
1159 KDN009 Kidney Fibrosarcoma 22
1160 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 21
1161 P TTR028 Tetraamelia Syndrome 1 21
1162 c SBC010 Subacute Glomerulonephritis 21
1163 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 21
1164 DPL007 Duplication of Urethra 21
1165 c PRX068 Peroxisome Biogenesis Disorder 7b 21
1166 c PRX066 Peroxisome Biogenesis Disorder 3b 21
1167 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1168 c SYS040 Systemic Lupus Erythematosus 10 20
1169 FCC002 Faciocardiorenal Syndrome 20
1170 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1171 c SYS038 Systemic Lupus Erythematosus 2 20
1172 c JVN046 Juvenile Polymyositis 20
1173 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 20
1174 c SPS029 Spastic Paraplegia 19 20
1175 HVY003 Heavy Chain Deposition Disease 19
1176 c SNR007 Senior-Loken Syndrome 7 19
1177 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 19
1178 ESN013 Eosinophilic Cystitis 19
1179 c GLY093 Glycogen Storage Disease Ixa 19
1180 c HYP712 Hypercalcemia, Infantile, 2 19
1181 DYS180 Dyschondrosteosis and Nephritis 19
1182 c GLL045 Galloway-Mowat Syndrome 6 18
1183 THY105 Thyrocerebroretinal Syndrome 18
1184 c SNR006 Senior-Loken Syndrome 6 18
1185 c PLY141 Polycystic Kidney Disease 5 18
1186 c TTR029 Tetraamelia Syndrome 2 18
1187 ACT041 Acute Diffuse Nephritis 17
1188 c LDD008 Liddle Syndrome 2 17
1189 c GLL047 Galloway-Mowat Syndrome 8 17
1190 c SYS066 Systemic Polyarteritis Nodosa 17
1191 c SRC024 Sarcoidosis 3 17
1192 c SYS069 Systemic Lupus Erythematosus 6 17
1193 c SYS053 Systemic Lupus Erythematosus 5 17
1194 c SYS065 Systemic Lupus Erythematosus 11 17
1195 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 16
1196 c HRD156 Hereditary Central Diabetes Insipidus 16
1197 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 16
1198 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 16
1199 c LDD009 Liddle Syndrome 3 16
1200 c PRT135 Protoporphyria, Erythropoietic, 2 16
1201 c SYS041 Systemic Lupus Erythematosus 9 16
1202 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 16
1203 IGG011 Igg4-Related Kidney Disease 15
1204 c SYS046 Systemic Lupus Erythematosus 3 15
1205 CNG330 Congenital Megacalycosis 15
1206 VLN001 Valinemia 15
1207 c ACQ034 Acquired Central Diabetes Insipidus 15
1208 PTN009 Patent Urachus 15
1209 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1210 c SYS055 Systemic Lupus Erythematosus 12 14
1211 ATR053 Atresia of Urethra 14
1212 LGH014 Light and Heavy Chain Deposition Disease 14
1213 CLL035 Collagen Type Iii Glomerulopathy 14
1214 c SYS051 Systemic Lupus Erythematosus 4 14
1215 c SYS047 Systemic Lupus Erythematosus 7 14
1216 GNR029 Generalized Galactose Epimerase Deficiency 14
1217 INF059 Infundibulopelvic Dysgenesis 14
1218 MGL007 Megalocytic Interstitial Nephritis 13
1219 APV001 Aapoaiv Amyloidosis 13
1220 KDN014 Kidney Leiomyosarcoma 13
1221 P CNG326 Congenital Primary Megaureter 13
1222 PHS019 Phosphohydroxylysinuria 13
1223 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1224 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1225 URC013 Urachal Diverticulum 12
1226 c SYS048 Systemic Lupus Erythematosus 8 12
1227 c SYS067 Systemic Lupus Erythematosus 15 12
1228 c SYS045 Systemic Lupus Erythematosus 14 12
1229 c SYS052 Systemic Lupus Erythematosus 13 12
1230 P ANT062 Anterior Urethral Valve 12
1231 ISL133 Isolated Epispadias 12
1232 c PRM222 Primary Polyarteritis Nodosa 12
1233 c ACR115 Acrorenal Syndrome, Autosomal Recessive 11
1234 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
1235 URC012 Urachal Sinus 10
1236 PYL001 Pyeloureteritis Cystica 10
1237 KDN005 Kidney Liposarcoma 10
1238 MGC005 Megacystis-Megaureter Syndrome 10
1239 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1240 DCT001 Dioctophymiasis 9
1241 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
1242 KDN003 Kidney Lipoma 8
1243 MXD010 Mixed Epithelial Stromal Tumour 8
1244 c SCN055 Secondary Polyarteritis Nodosa 8
1245 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
1246 c CNG348 Congenital Sialidosis Type 2 7
1247 P JVN036 Juvenile Sialidosis Type 2 7
1248 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 7
1249 SNG013 Single-Organ Polyarteritis Nodosa 7
1250 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 7
1251 c ACR048 Acrorenal Syndrome Recessive 6
1252 c BNG028 Benign Renovascular Hypertension 6
1253 MTC002 Metachronous Kidney Wilms' Tumor 6
1254 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
1255 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 5
1256 ABD005 Abderhalden Kaufmann Lignac Syndrome 5
1257 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
1258 CNG331 Congenital Bilateral Megacalycosis 5
1259 UNL009 Unilateral Congenital Megacalycosis 5
1260 BLK002 Balkan Hemorrhagic Fever 4
1261 NNC001 Non-Congenital Cyst of Kidney 4
1262 STR004 Stricture or Kinking of Ureter 4
1263 c PRM147 Primary Megaureter, Adult-Onset Form 4
1264 BNG089 Benign Metanephric Tumour 4
1265 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1266 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1267 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
1268 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1269 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1270 ATH002 Atheroembolism of Kidney 3
1271 ACT215 Actg2-Related Disorders 3
1272 FCL004 Focal Embolic Glomerulonephritis 3
1273 RNL065 Renal Cell Carcinoma, Papillary, 1 71
1274 RNL114 Renal Cell Carcinoma, Nonpapillary 63
1275 AMY082 Amyloidosis, Familial Visceral 51
1276 CLR030 Clear Cell Renal Cell Carcinoma 49
1277 CHR177 Chromophobe Renal Cell Carcinoma 54
1278 RNL119 Renal Cell Carcinoma, Xp11-Associated 30
1279 P KDN017 Kidney Cancer 59
1280 BLD039 Bladder Adenocarcinoma 40
1281 c KDN012 Kidney Carcinoma in Situ 8
1282 HMT008 Hematuria, Benign Familial 45
1283 CLL002 Collecting Duct Carcinoma 44
1284 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 17
1285 BLD064 Bladder Cancer, Childhood 7
1286 SCH016 Schimke Immunoosseous Dysplasia 49
1287 RNL011 Renal Osteodystrophy 49
1288 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 25
1289 BLD031 Bladder Signet Ring Cell Adenocarcinoma 10
1290 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 26
1291 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 19
1292 BLD043 Bladder Clear Cell Adenocarcinoma 10
1293 c ATS420 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 22
1294 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 13
1295 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 12
1296 c MCR129 Microvascular Complications of Diabetes 1 66
1297 c ALP106 Alport Syndrome 1, X-Linked 53
1298 VSC044 Visceral Myopathy 52
1299 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 61
1300 KDN007 Kidney Clear Cell Sarcoma 39
1301 RNL004 Renal Pelvis Adenocarcinoma 28
1302 RNL009 Renal Pelvis Squamous Cell Carcinoma 16
1303 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
1304 TRN018 Transitional Cell Carcinoma 62
1305 P TWN003 Townes-Brocks Syndrome 54
1306 SRC002 Sarcomatoid Renal Cell Carcinoma 44
1307 CHL010 Childhood Kidney Cell Carcinoma 41
1308 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 30
1309 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 12
1310 RNL112 Renal, Genital, and Middle Ear Anomalies 12
1311 KDN008 Kidney Pelvis Papillary Carcinoma 11
1312 RNL032 Renal Caliceal Diverticuli Deafness 11
1313 BLD014 Bladder Colonic Type Adenocarcinoma 7
1314 BLD010 Bladder Colloid Adenocarcinoma 6
1315 MCK007 Muckle-Wells Syndrome 63
1316 ALK013 Alkaptonuria 57
1317 HPT014 Hepatorenal Syndrome 49
1318 DNR002 Duane-Radial Ray Syndrome 45
1319 c ALP105 Alport Syndrome 2, Autosomal Recessive 44
1320 c ALP104 Alport Syndrome 3, Autosomal Dominant 39
1321 STR094 Stromme Syndrome 38
1322 c TWN011 Townes-Brocks Syndrome 1 34
1323 P GLM015 Glomerulopathy with Fibronectin Deposits 2 32
1324 c GLM014 Glomerulopathy with Fibronectin Deposits 1 18
1325 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 64
1326 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 61
1327 DBT087 Diabetes Insipidus, Neurohypophyseal 61
1328 P HML001 Hemolytic-Uremic Syndrome 55
1329 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 44
1330 KDN019 Kidney Sarcoma 38
1331 AMN007 Aminoacylase 1 Deficiency 37
1332 SCL046 Scalp-Ear-Nipple Syndrome 35
1333 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
1334 ADL060 Adult Polyglucosan Body Disease 30
1335 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
1336 MLL009 Mullerian Aplasia 29
1337 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
1338 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 18
1339 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
1340 MLT157 Multiple System Atrophy 1 72
1341 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
1342 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 59
1343 c TYR012 Tyrosinemia, Type I 55
1344 DNN002 Donnai-Barrow Syndrome 55
1345 P EMB005 Embryonal Rhabdomyosarcoma 54
1346 P FML068 Familial Hypocalciuric Hypercalcemia 50
1347 c TYR013 Tyrosinemia, Type Ii 46
1348 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
1349 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
1350 3MC003 3mc Syndrome 40
1351 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
1352 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
1353 KDN002 Kidney Rhabdoid Cancer 34
1354 KDN016 Kidney Benign Neoplasm 34
1355 P CNG002 Congenital Bile Acid Synthesis Defect 33
1356 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 31
1357 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 31
1358 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 29
1359 c RHB023 Rhabdomyosarcoma, Embryonal, 1 29
1360 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
1361 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
1362 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
1363 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 16
1364 c RHB021 Rhabdomyosarcoma, Embryonal, 2 15
1365 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 14
1366 c RNL034 Renal Cell Carcinoma 4 12
1367 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 12
1368 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 10
1369 BLD017 Bladder Mixed Adenocarcinoma 10
1370 SNT001 Santos Mateus Leal Syndrome 9
1371 BLD021 Bladder Urachal Adenocarcinoma 7
1372 BLD018 Bladder Hepatoid Adenocarcinoma 6
1373 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
1374 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
1375 GLL001 Gall Bladder Carcinoma in Situ 5
1376 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
1377 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 2
1378 NPH022 Nephropathy Familial with Hyperuricemia 2
1379 P LVR013 Liver Disease 76
1380 SCK003 Sickle Cell Anemia 74
1381 P FML018 Familial Mediterranean Fever 73
1382 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1383 GLC006 Galactosemia 65
1384 c LCL006 Localized Scleroderma 65
1385 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1386 P OST001 Osteopetrosis 63
1387 P PLV020 Pelvic Organ Prolapse 62
1388 NRM005 Neuromuscular Disease 61
1389 c GLY003 Glycogen Storage Disease Iii 61
1390 DGR001 Digeorge Syndrome 61
1391 NRM019 Neuraminidase Deficiency 60
1392 c ALP101 Alpha-Thalassemia 60
1393 FCT007 Factor Vii Deficiency 60
1394 ELL001 Ellis-Van Creveld Syndrome 60
1395 c BRD014 Bardet-Biedl Syndrome 2 60
1396 c ORF040 Orofaciodigital Syndrome Viii 59
1397 CHL028 Childhood Type Dermatomyositis 59
1398 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
1399 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
1400 P PLY041 Polymyositis 58
1401 P BCK002 Beckwith-Wiedemann Syndrome 58
1402 P SHR029 Short Syndrome 57
1403 c GLY005 Glycogen Storage Disease Vi 57
1404 c GLY004 Glycogen Storage Disease V 56
1405 P FNC043 Fanconi Anemia, Complementation Group E 56
1406 DBN001 Dubin-Johnson Syndrome 55
1407 APP015 Apparent Mineralocorticoid Excess 55
1408 RLP001 Relapsing Polychondritis 55
1409 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
1410 c GLY007 Glycogen Storage Disease Iv 54
1411 NLP001 Nail-Patella Syndrome 54
1412 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
1413 MYL003 Myeloid Sarcoma 53
1414 P FML052 Familial Cold Autoinflammatory Syndrome 53
1415 DFF035 Diffuse Cutaneous Systemic Sclerosis 53
1416 c ACT134 Acute Liver Failure 53
1417 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 52
1418 c GLY011 Glycogen Storage Disease Vii 52
1419 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1420 P SLL003 Salla Disease 52
1421 PTS001 Patau Syndrome 52
1422 HMG002 Hemoglobinuria 51
1423 CNN011 Cenani-Lenz Syndactyly Syndrome 51
1424 P ORF001 Orofaciodigital Syndrome 51
1425 P MGL001 Megaloblastic Anemia 51
1426 c BRN108 Branchiootic Syndrome 1 50
1427 P PLY017 Polyarteritis Nodosa 50
1428 c FNC024 Fanconi Anemia, Complementation Group D1 50
1429 c GLY060 Glycogen Storage Disease Ia 50
1430 LMT001 Limited Scleroderma 50
1431 c ORF034 Orofaciodigital Syndrome Vi 49
1432 GRN034 Grange Syndrome 47
1433 c INF145 Infantile Liver Failure Syndrome 1 47
1434 c BRD016 Bardet-Biedl Syndrome 4 47
1435 PRP056 Porphyria, Acute Hepatic 47
1436 c ATS282 Autosomal Recessive Malignant Osteopetrosis 46
1437 ONC003 Oncogenic Osteomalacia 45
1438 ALP077 Alpha-Methylacetoacetic Aciduria 45
1439 c SHR030 Short Qt Syndrome 44
1440 TRC003 Trichomoniasis 44
1441 c SRC023 Sarcoidosis 2 43
1442 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
1443 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 41
1444 CMP042 Complement Factor H Deficiency 41
1445 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 40
1446 CDQ001 Cauda Equina Syndrome 40
1447 MTH078 Methylmalonic Aciduria, Cblb Type 40
1448 c L2H001 L-2-Hydroxyglutaric Aciduria 40
1449 c GLY044 Glycogen Storage Disease Ixc 40
1450 HLX001 Helix Syndrome 40
1451 BTR002 Beta-Ureidopropionase Deficiency 38
1452 P 2HY001 2-Hydroxyglutaric Aciduria 38
1453 c ADL027 Adult Dermatomyositis 38
1454 IMM001 Immune-Complex Glomerulonephritis 38
1455 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
1456 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1457 HYP193 Hypocomplementemic Urticarial Vasculitis 37
1458 P HYP733 Hypercalciuria, Absorptive, 2 37
1459 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
1460 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1461 c SYS061 Systemic Lupus Erythematosus 16 35
1462 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 34
1463 c FML294 Familial Short Qt Syndrome 34
1464 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1465 TRL002 Tarlov Cysts 34
1466 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
1467 c ORF035 Orofaciodigital Syndrome Iv 34
1468 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 33
1469 TBS001 Tabes Dorsalis 33
1470 VRH001 Verheij Syndrome 33
1471 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1472 c ORF038 Orofaciodigital Syndrome Iii 32
1473 PDN001 Pudendal Neuralgia 31
1474 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1475 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
1476 c ALG016 Alagille Syndrome 2 30
1477 c GLY009 Glycogen Storage Disease Xv 30
1478 PCM002 Pauci-Immune Glomerulonephritis 30
1479 FRC005 Fructosuria, Essential 30
1480 c GLY097 Glycogen Storage Disease Ixb 29
1481 c ORF046 Orofaciodigital Syndrome Xvi 29
1482 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
1483 c OST125 Osteopetrosis, Autosomal Dominant 1 29
1484 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
1485 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 28
1486 c ORF043 Orofaciodigital Syndrome Ix 28
1487 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1488 c ORF033 Orofaciodigital Syndrome V 28
1489 NRS001 Neuroschistosomiasis 28
1490 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 28
1491 URC004 Urachal Cancer 28
1492 c LVR030 Liver Failure, Infantile, Transient 27
1493 GLN006 Glandular Cystitis 27
1494 c ORF036 Orofaciodigital Syndrome Xiv 27
1495 c ORF041 Orofaciodigital Syndrome X 27
1496 c GLY006 Glycogen Storage Disease Viii 27
1497 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1498 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 26
1499 c OST106 Osteopetrosis, Autosomal Recessive 8 25
1500 c ORF051 Orofaciodigital Syndrome Xvii 24
1501 3HY001 3-Hydroxyisobutyric Aciduria 24
1502 c SHR032 Short Qt Syndrome 2 24
1503 CMB084 Combined Oxidative Phosphorylation Deficiency 34 24
1504 c ORF052 Orofaciodigital Syndrome Xviii 24
1505 c ORF045 Orofaciodigital Syndrome Xv 24
1506 c SHR031 Short Qt Syndrome 1 24
1507 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 24
1508 c GLY059 Glycogen Storage Disease Xiii 24
1509 c HML036 Hemolytic Uremic Syndrome, Atypical 6 23
1510 HYP344 Hyperthyroidism, Familial Gestational 23
1511 IMM053 Immunotactoid Glomerulopathy 23
1512 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1513 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1514 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 22
1515 c FML344 Familial Mediterranean Fever, Autosomal Dominant 22
1516 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1517 c INF138 Infantile Liver Failure Syndrome 2 22
1518 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
1519 c SHR033 Short Qt Syndrome 3 21
1520 URM001 Uremic Neuropathy 21
1521 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 21
1522 c JBR036 Joubert Syndrome 25 21
1523 c DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 20
1524 NRF010 Neurofaciodigitorenal Syndrome 20
1525 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 19
1526 NNM007 Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 19
1527 c HYP708 Hyperaldosteronism, Familial, Type Iv 19
1528 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
1529 c ORF039 Orofaciodigital Syndrome Vii 16
1530 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
1531 c ORF006 Orofaciodigital Syndrome 13 15
1532 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 15
1533 c ORF005 Orofaciodigital Syndrome 12 15
1534 P DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 14
1535 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 13
1536 GRH002 Graham Boyle Troxell Syndrome 13
1537 c HYP809 Hypercalciuria, Absorptive, 1 13
1538 c OLV005 Olivopontocerebellar Atrophy V 13
1539 c CLC009 Clcn7-Related Osteopetrosis 10
1540 c PLV014 Pelvic Organ Prolapse 2 10
1541 c INT094 Intermediate Severe Salla Disease 9
1542 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
1543 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1544 URT019 Urethral Gland Abscess 7
1545 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1546 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 7
1547 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
1548 P MLN066 Melanoma, Cutaneous Malignant 1 65
1549 c MLN043 Melanoma, Cutaneous Malignant 8 28
1550 c MLN067 Melanoma, Cutaneous Malignant 2 26
1551 c MLN075 Melanoma, Cutaneous Malignant 3 22
1552 c MLN055 Melanoma, Cutaneous Malignant 10 18
1553 c MLN077 Melanoma, Cutaneous Malignant 9 17
1554 c MLN076 Melanoma, Cutaneous Malignant 5 16
1555 c MLN042 Melanoma, Cutaneous Malignant 6 16
1556 c MLN074 Melanoma, Cutaneous Malignant 4 15
1557 c MLN040 Melanoma, Cutaneous Malignant 7 14
1558 BRT002 Birt-Hogg-Dube Syndrome 57
1559 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1560 P AMY084 Amyloidosis, Finnish Type 52
1561 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1562 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
1563 c FML249 Familial Amyloidosis, Finnish Type 24
1564 KDN010 Kidney Osteogenic Sarcoma 13
1565 c RNL033 Renal Carcinoma, Familial 5
1566 c BTT014 Beta-Thalassemia 72
1567 c TBR025 Tuberous Sclerosis 1 71
1568 c NRF024 Neurofibromatosis, Type I 68
1569 c SCL052 Scleroderma, Familial Progressive 67
1570 P DRM010 Dermatomyositis 65
1571 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 63
1572 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
1573 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 62
1574 MXD005 Mixed Connective Tissue Disease 60
1575 FRC011 Fructose Intolerance, Hereditary 60
1576 BRG013 Buerger Disease 60
1577 ADR054 Adrenocortical Carcinoma, Hereditary 59
1578 c HYP731 Hyperaldosteronism, Familial, Type I 56
1579 c OST131 Osteopetrosis, Autosomal Dominant 2 55
1580 P LDD007 Liddle Syndrome 1 55
1581 PSD014 Pseudopseudohypoparathyroidism 55
1582 c ORF037 Orofaciodigital Syndrome I 55
1583 P CRY007 Cryoglobulinemia, Familial Mixed 54
1584 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
1585 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1586 P TRN034 Transverse Myelitis 53
1587 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1588 HYD061 Hydrocephalus, Normal-Pressure 51
1589 P HMC002 Homocystinuria 51
1590 c RBN021 Rubinstein-Taybi Syndrome 1 50
1591 c RBN009 Robinow Syndrome, Autosomal Recessive 49
1592 P OLV001 Olivopontocerebellar Atrophy 48
1593 P RBN002 Robinow Syndrome 47
1594 RYN003 Reynolds Syndrome 46
1595 c OST129 Osteopetrosis, Autosomal Recessive 2 46
1596 GLT007 Glutathione Synthetase Deficiency 45
1597 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
1598 c OST136 Osteopetrosis, Autosomal Recessive 7 45
1599 c ACT159 Acute Transverse Myelitis 45
1600 P SMP003 Simpson-Golabi-Behmel Syndrome 44
1601 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1602 c ATS082 Autosomal Dominant Robinow Syndrome 43
1603 c FNC046 Fanconi Anemia, Complementation Group P 43
1604 ARC002 Arachnoiditis 41
1605 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1606 c RBN018 Robinow Syndrome, Autosomal Dominant 1 41
1607 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 40
1608 P BTR001 Botryoid Rhabdomyosarcoma 40
1609 PRM237 Primary Hypomagnesemia 39
1610 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1611 P FML156 Familial Hyperaldosteronism 37
1612 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
1613 c HYP600 Hyperaldosteronism, Familial, Type Ii 35
1614 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 34
1615 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1616 c OST134 Osteopetrosis, Autosomal Recessive 6 32
1617 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1618 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1619 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1620 MCP039 Mucoepithelial Dysplasia, Hereditary 30
1621 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1622 BLB005 Beaulieu-Boycott-Innes Syndrome 29
1623 c OST137 Osteopetrosis, Autosomal Recessive 4 29
1624 IDP085 Idiopathic Infantile Hypercalcemia 28
1625 c FML324 Familial Porphyria Cutanea Tarda 26
1626 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1627 OCL043 Oculorenocerebellar Syndrome 19
1628 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 16
1629 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 14
1630 c RR2001 Ror2-Related Robinow Syndrome 13
1631 P RBN007 Rubinstein Taybi Like Syndrome 9
1632 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
1633 c SCN040 Secondary Acute Transverse Myelitis 6
1634 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
1635 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
1636 VSC006 Vascular Cancer 50
1637 WLS001 Wilson Disease 70
1638 P PRP003 Porphyria Cutanea Tarda 66
1639 P MCH002 Machado-Joseph Disease 63
1640 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 59
1641 RHB001 Rhabdoid Cancer 57
1642 ALS001 Alstrom Syndrome 57
1643 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 50
1644 c MGL018 Megaloblastic Anemia 1 47
1645 c BRD015 Bardet-Biedl Syndrome 3 43
1646 HYP249 Hyperthyroidism, Nonautoimmune 32
1647 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 29
1648 c ORF042 Orofaciodigital Syndrome Xi 24
1649 c MCH013 Machado-Joseph Disease Type 3 19
1650 c MCH012 Machado-Joseph Disease Type 1 19
1651 c MCH014 Machado-Joseph Disease Type 2 19
1652 P TBR001 Tuberous Sclerosis 69
1653 P LYN001 Lynch Syndrome 66
1654 PRT010 Parathyroid Carcinoma 64
1655 P PLR004 Pleuropulmonary Blastoma 62
1656 c LYN004 Lynch Syndrome I 61
1657 GLC011 Galactose Epimerase Deficiency 49
1658 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1659 c PLR018 Pleuropulmonary Blastoma Type 1 10
1660 c PLR019 Pleuropulmonary Blastoma Type 2 7
1661 c PLR020 Pleuropulmonary Blastoma Type 3 7
1662 P THR005 Thrombotic Thrombocytopenic Purpura 62



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