Nephrological Diseases Category (1278 diseases)


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

# Family MCID Name MIFTS
1 P MPL001 Maple Syrup Urine Disease 65
2 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56
3 P BLD134 Bladder Cancer 69
4 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40
5 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
6 PPL048 Papillorenal Syndrome 50
7 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 50
8 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 28
9 P HYP761 Hypouricemia, Renal, 1 39
10 DNB001 Danubian Endemic Familial Nephropathy 45
11 c HYP534 Hypomagnesemia 3, Renal 37
12 PRL032 Perlman Syndrome 45
13 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 39
14 IGG001 Iga Glomerulonephritis 55
15 P DNT020 Dent Disease 1 59
16 CNG116 Congenital Nephrotic Syndrome Finnish Type 15
17 P HYP210 Hypomagnesemia 2, Renal 36
18 c NPH055 Nephrotic Syndrome, Type 1 46
19 HMT008 Hematuria, Benign Familial 39
20 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 13
21 SML031 Small Cell Carcinoma of the Bladder 37
22 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 28
23 FML076 Familial Juvenile Hyperuricaemic Nephropathy 24
24 c WLM013 Wilms Tumor 1 64
25 P MMB011 Membranous Nephropathy 57
26 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 43
27 P HRD009 Hereditary Wilms' Tumor 36
28 P HYP658 Hypoplastic Amelogenesis Imperfecta 26
29 c WLM005 Wilms Tumor 2 19
30 c WLM017 Wilms Tumor 4 17
31 c WLM015 Wilms Tumor 3 15
32 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 14
33 c FML094 Familial Wilms Tumor 2 6
34 P MCK013 Meckel Syndrome, Type 1 59
35 NRG002 Neurogenic Bladder 53
36 c MCK033 Meckel Syndrome, Type 4 31
37 c MCK012 Meckel Syndrome, Type 6 30
38 c MCK030 Meckel Syndrome, Type 7 30
39 c MCK032 Meckel Syndrome, Type 3 26
40 c MCK031 Meckel Syndrome, Type 2 23
41 c MCK034 Meckel Syndrome, Type 8 23
42 c MCK014 Meckel Syndrome, Type 5 22
43 c MCK035 Meckel Syndrome, Type 10 22
44 c MCK026 Meckel Syndrome 12 22
45 c MCK036 Meckel Syndrome, Type 9 20
46 c MCK028 Meckel Syndrome 13 20
47 c MCK020 Meckel Syndrome, Type 11 19
48 RNL051 Renal Cysts and Diabetes Syndrome 44
49 P KDN018 Kidney Disease 68
50 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
51 RNL024 Renal Glucosuria 49
52 c MCR113 Microvascular Complications of Diabetes 3 52
53 EXS017 Exstrophy of Bladder 46
54 P RNL100 Renal Hypodysplasia/aplasia 1 57
55 BLD044 Bladder Disease 55
56 P URF003 Urofacial Syndrome 1 42
57 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 26
58 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 24
59 c URF002 Urofacial Syndrome 2 19
60 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 31
61 P GLL032 Galloway-Mowat Syndrome 46
62 LPD004 Lipoid Nephrosis 46
63 P AML002 Amelogenesis Imperfecta 45
64 c GLL038 Galloway-Mowat Syndrome 1 37
65 c AML020 Amelogenesis Imperfecta, Type Iv 36
66 c AML044 Amelogenesis Imperfecta, Type Ig 36
67 c AML061 Amelogenesis Imperfecta, Type Ie 35
68 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 35
69 c AML017 Amelogenesis Imperfecta, Type Ib 34
70 c AML057 Amelogenesis Imperfecta, Type Iiia 31
71 c BKV001 Bk-Virus Nephropathy 26
72 c AML047 Amelogenesis Imperfecta, Type Ia 20
73 c AML048 Amelogenesis Imperfecta, Type Ih 20
74 c AML050 Amelogenesis Imperfecta, Type if 19
75 c GLL040 Galloway-Mowat Syndrome 3 19
76 c AML018 Amelogenesis Imperfecta, Type Ic 19
77 c GLL041 Galloway-Mowat Syndrome 4 18
78 c GLL042 Galloway-Mowat Syndrome 5 18
79 c AML056 Amelogenesis Imperfecta, Type Iiib 15
80 c AML063 Amelogenesis Imperfecta Type 2a1 11
81 c GLL043 Galloway-Mowat Syndrome 2 7
82 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 32
83 BLD131 Bladder Urothelial Carcinoma 60
84 URN009 Urinary System Disease 55
85 P SNR003 Senior-Loken Syndrome 1 55
86 P RNL028 Renal Tubular Dysgenesis 48
87 c NPH049 Nephrotic Syndrome, Type 2 34
88 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 29
89 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 25
90 c SNR016 Senior-Loken Syndrome 9 21
91 c SNR015 Senior-Loken Syndrome 8 20
92 c SNR011 Senior-Loken Syndrome 3 20
93 c SNR004 Senior-Loken Syndrome 4 20
94 c SNR007 Senior-Loken Syndrome 7 20
95 c SNR005 Senior-Loken Syndrome 5 18
96 c SNR006 Senior-Loken Syndrome 6 18
97 CYS036 Cystinosis, Nephropathic 48
98 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
99 P NPH005 Nephronophthisis 56
100 NPH091 Nephrolithiasis, Calcium Oxalate 51
101 c FML015 Familial Nephrotic Syndrome 34
102 RNL039 Renal Dysplasia-Limb Defects Syndrome 27
103 HRD044 Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 19
104 c CHR089 Chronic Kidney Failure 72
105 c RNL113 Renal Failure, Progressive, with Hypertension 30
106 c FCL082 Focal Segmental Glomerulosclerosis 4 22
107 c FCL043 Focal Segmental Glomerulosclerosis 6 21
108 c FCL027 Focal Segmental Glomerulosclerosis 3 20
109 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 20
110 c FCL028 Focal Segmental Glomerulosclerosis 5 20
111 c FCL085 Focal Segmental Glomerulosclerosis 7 20
112 c FCL053 Focal Segmental Glomerulosclerosis 8 19
113 c FCL026 Focal Segmental Glomerulosclerosis 2 19
114 c FCL055 Focal Segmental Glomerulosclerosis 9 18
115 MLT033 Multicentric Osteolysis Nephropathy 9
116 BLD029 Bladder Dome Cancer 8
117 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 6
118 MTC065 Mitochondrial Dna Depletion Syndrome 8a 25
119 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
120 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23
121 c NPH019 Nephronophthisis 1 42
122 CKT002 Cakut 31
123 SPR001 Superficial Urinary Bladder Cancer 30
124 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
125 HMR004 Hemorrhagic Fever with Renal Syndrome 61
126 P RNL007 Renal Tubular Acidosis 52
127 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
128 c NPH030 Nephronophthisis 2 41
129 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37
130 BLD049 Bladder Transitional Cell Papilloma 32
131 LWC001 Low Compliance Bladder 29
132 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 23
133 NPH002 Nephrogenic Adenoma of Urinary Bladder 20
134 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 20
135 c HYP302 Hypomagnesemia 4, Renal 18
136 BLD026 Bladder Trigone Cancer 8
137 PRS055 Pierson Syndrome 41
138 NPH078 Nephrolithiasis, Uric Acid 29
139 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 23
140 c HYP376 Hypouricemia, Renal, 2 19
141 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 9
142 P CYS018 Cystitis 56
143 BLD047 Bladder Squamous Cell Carcinoma 49
144 c ACT068 Acute Cystitis 49
145 P IGN003 Iga Nephropathy 1 34
146 c NPH054 Nephrotic Syndrome, Type 3 30
147 c NPH072 Nephrotic Syndrome, Type 7 29
148 c CHR087 Chronic Cystitis 28
149 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
150 RRM005 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 11
151 P RNL017 Renal Oncocytoma 48
152 P RNL045 Renal Tubular Acidosis, Distal 43
153 RNL018 Renal Pelvis Carcinoma 38
154 c NPH032 Nephronophthisis 4 34
155 c BLD008 Bladder Carcinoma in Situ 32
156 JBR007 Joubert Syndrome with Renal Anomalies 29
157 URN022 Urinary Tract Infections, Recurrent 29
158 P RNL115 Renal Tubular Acidosis, Proximal 28
159 c HYP445 Hypomagnesemia 6, Renal 19
160 BRC111 Brachymesomelia-Renal Syndrome 15
161 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 8
162 JWT001 Jewett-Marshall Bladder Cancer 7
163 URN005 Urinary Bladder Villous Adenoma 6
164 P NPH012 Nephrotic Syndrome 59
165 URN003 Urinary Schistosomiasis 49
166 NPH003 Nephrocalcinosis 48
167 c CNG029 Congenital Mesoblastic Nephroma 42
168 c MCR112 Microvascular Complications of Diabetes 2 33
169 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 28
170 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 22
171 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 19
172 BLD025 Bladder Sarcoma 19
173 c ACT071 Acute Kidney Failure 54
174 BLD009 Bladder Neck Obstruction 40
175 RNL094 Renal Dysplasia, Cystic 35
176 OLG021 Oligomeganephronia 27
177 c NPH094 Nephrotic Syndrome 14 19
178 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 19
179 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 19
180 THY044 Thymic-Renal-Anal-Lung Dysplasia 16
181 c RNL122 Renal Hypodysplasia/aplasia 3 43
182 c NPH031 Nephronophthisis 3 31
183 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 31
184 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 21
185 BLD046 Bladder Papillary Transitional Cell Neoplasm 19
186 CHR176 Chromophil Renal Cell Carcinoma 18
187 APM002 Aapoai Amyloidosis 15
188 RDR001 Radio Renal Syndrome 14
189 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 13
190 BLD003 Bladder Lateral Wall Cancer 13
191 APM001 Aapoaii Amyloidosis 13
192 PLY043 Polyomavirus Allograft Nephropathy 12
193 BLD027 Bladder Neck Cancer 7
194 URN004 Urinary Bladder Inverted Papilloma 7
195 SPL022 Split Hand Urinary Anomalies Spina Bifida 6
196 c URN006 Urinary Bladder Posterior Wall Cancer 6
197 P URN007 Urinary Bladder Anterior Wall Cancer 6
198 HST012 Histidinuria Renal Tubular Defect 6
199 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
200 PRN038 Prune Belly Syndrome 52
201 CYS039 Cystic Kidney Disease 51
202 c BRN131 Branchiootorenal Syndrome 1 40
203 c MCR130 Microvascular Complications of Diabetes 6 40
204 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 39
205 c MCR120 Microvascular Complications of Diabetes 7 37
206 c MCR133 Microvascular Complications of Diabetes 4 35
207 c NPH075 Nephronophthisis 18 21
208 NPH037 Nephronophthisis-Like Nephropathy 1 21
209 c BRN046 Branchiootorenal Spectrum Disorders 19
210 c NPH035 Nephronophthisis 9 18
211 ACR045 Acro-Pectoro-Renal Field Defect 7
212 NPH009 Nephrolithiasis 55
213 NPH010 Nephrosclerosis 47
214 P RNL015 Renal Hypertension 46
215 RNL021 Renal Tubular Transport Disease 38
216 c NPH047 Nephrotic Syndrome, Type 4 25
217 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 23
218 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 22
219 c NPH074 Nephrotic Syndrome, Type 9 21
220 c NPH096 Nephrotic Syndrome, Type 12 19
221 c NPH095 Nephrotic Syndrome, Type 11 19
222 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
223 DNT019 Daentl Towsend Siegel Syndrome 11
224 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 9
225 c FCL025 Focal Segmental Glomerulosclerosis 1 59
226 P FNC004 Fanconi Syndrome 52
227 RNL012 Renal Tuberculosis 39
228 ACT003 Acute Kidney Tubular Necrosis 38
229 c JVN041 Juvenile Nephronophthisis 38
230 RNL097 Renal Artery Disease 38
231 INV004 Invasive Bladder Transitional Cell Carcinoma 37
232 FML029 Familial Renal Papillary Carcinoma 36
233 BLD045 Bladder Diverticulum 35
234 c FNC059 Fanconi-Like Syndrome 33
235 c INF147 Infantile Nephronophthisis 32
236 NPH001 Nephrogenic Adenoma 31
237 BLD041 Bladder Calculus 30
238 RNL008 Renal Artery Atheroma 30
239 BLD028 Bladder Lymphoma 27
240 c PRM200 Primary Fanconi Syndrome 26
241 HNM002 Hinman Syndrome 25
242 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 24
243 c NPH077 Nephronophthisis 19 24
244 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
245 c NPH053 Nephronophthisis 11 23
246 c NPH065 Nephronophthisis 13 22
247 c NPH068 Nephronophthisis 16 21
248 ACT043 Acute Urate Nephropathy 21
249 c NPH070 Nephrotic Syndrome, Type 6 20
250 c NPH069 Nephronophthisis 15 20
251 c NPH067 Nephronophthisis 12 20
252 RNL019 Renal Pelvis Transitional Cell Carcinoma 19
253 BLD065 Blue Diaper Syndrome 19
254 c RNL099 Renal Hypodysplasia/aplasia 2 19
255 c NPH033 Nephronophthisis 7 18
256 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 17
257 RDL030 Radial-Renal Syndrome 17
258 BLD023 Bladder Leiomyoma 15
259 c MLG055 Malignant Cystic Nephroma 15
260 INB002 Inborn Renal Aminoaciduria 13
261 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
262 AFB003 Afib Amyloidosis 10
263 P BNG003 Benign Hypertensive Renal Disease 10
264 BLD022 Bladder Flat Intraepithelial Lesion 6
265 c MCR129 Microvascular Complications of Diabetes 1 61
266 P NTR004 Neutropenia 60
267 c SVR003 Severe Congenital Neutropenia 58
268 DPH019 Diaphanospondylodysostosis 38
269 P CYS007 Cystic Nephroma 37
270 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
271 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 33
272 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
273 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 31
274 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 31
275 KDN006 Kidney Papillary Necrosis 30
276 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
277 c DNT021 Dent Disease 2 26
278 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
279 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 25
280 P C1Q005 C1q Nephropathy 23
281 c NPH073 Nephrotic Syndrome, Type 8 21
282 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
283 c NPH071 Nephronophthisis 14 21
284 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
285 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
286 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
287 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
288 c NPH086 Nephronophthisis 20 19
289 CRM007 Crome Syndrome 19
290 c NTR045 Neutropenia, Chronic Familial 18
291 c NPH076 Nephrotic Syndrome, Type 10 17
292 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
293 c NPH093 Nephrotic Syndrome, Type 13 17
294 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 16
295 c IGN004 Iga Nephropathy 3 16
296 BLD030 Bladder Tuberculosis 16
297 c ELN001 Elane-Related Neutropenia 7
298 RNL078 Renal Dysplasia 46
299 P FNC026 Fanconi Renotubular Syndrome 1 32
300 P MDL008 Medullary Cystic Kidney Disease 1 29
301 STN006 Steinfeld Syndrome 26
302 SNR010 Senior-Løken Syndrome 24
303 LWR004 Lower Urinary Tract Calculus 23
304 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
305 c MDL021 Medullary Cystic Kidney Disease 2 20
306 c FNC049 Fanconi Renotubular Syndrome 3 19
307 c BRN086 Branchiootorenal Syndrome 2 18
308 c FNC034 Fanconi Renotubular Syndrome 2 18
309 c NPH092 Nephrotic Syndrome 15 17
310 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 16
311 BTM003 Beta-Aminoisobutyric Aciduria 15
312 P GLL020 Gallbladder Disease 64
313 URN010 Urinary Tract Obstruction 56
314 END030 End Stage Renal Failure 56
315 SCN001 Secondary Hyperparathyroidism of Renal Origin 50
316 HYP114 Hypertensive Nephropathy 36
317 HYP348 Hyperglycinuria 33
318 c GLL024 Gallbladder Disease 1 30
319 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 27
320 RNL013 Renal Adenoma 27
321 P HRD020 Hereditary Renal Cell Carcinoma 26
322 c GLL027 Gallbladder Disease 4 24
323 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 24
324 VNT030 Ventriculomegaly with Cystic Kidney Disease 21
325 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
326 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 19
327 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
328 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 18
329 c IGN002 Iga Nephropathy 2 16
330 BLT020 Bilateral Multicystic Dysplastic Kidney 16
331 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 16
332 c RNL117 Renal Tubular Acidosis Iii 15
333 NPH008 Nephrogenic Adenoma of the Urethra 15
334 ERY007 Erythropoietin Polycythemia 14
335 HST019 Histidinuria Due to a Renal Tubular Defect 14
336 SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 14
337 BLR029 Biliary Malformation with Renal Tubular Insufficiency 12
338 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 12
339 MLT112 Multiloculated Renal Cyst 11
340 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
341 c GLL025 Gallbladder Disease 2 10
342 c GLL026 Gallbladder Disease 3 10
343 c CNG407 Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization 10
344 RNL036 Renal Dysplasia Diffuse Cystic 10
345 URT023 Ureteric Orifice Cancer 10
346 URN021 Urinary Bladder, Atony of 9
347 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
348 c RNR002 Ren-Related Kidney Disease 9
349 BLD012 Bladder Urothelial Papillary Carcinoma 8
350 NNN004 Non-Invasive Bladder Urothelial Carcinoma 8
351 BTM002 Beta-Amino Acids, Renal Transport of 7
352 LNG042 Langer Nishino Yamaguchi Syndrome 6
353 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
354 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
355 BLD011 Bladder Verrucous Squamous Cell Carcinoma 6
356 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 6
357 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
358 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 6
359 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 6
360 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 6
361 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 6
362 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
363 JJN005 Jejunal Atresia with Renal Adysplasia 6
364 c BLT012 Bilateral Renal Agenesis Dominant Type 5
365 NNR001 Non-Renal Secondary Hyperparathyroidism 5
366 STN004 Stone in Bladder Diverticulum 5
367 NNT002 Neonatal Urinary Tract Infectious Disease 5
368 DBL008 Double Uterus-Hemivagina-Renal Agenesis 4
369 ISC007 Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency 3
370 OCL029 Oculo Skeletal Renal Syndrome 3
371 P MCR115 Microvascular Complications of Diabetes 5 71
372 P CTR002 Cataract 60
373 URM002 Uremia 52
374 ANR004 Anuria 50
375 c CTR130 Cataract 9, Multiple Types 41
376 c CTR115 Cataract 16, Multiple Types 38
377 c CTR118 Cataract 14, Multiple Types 37
378 c CTR129 Cataract 31, Multiple Types 36
379 c CTR170 Cataract 30, Multiple Types 36
380 c CTR098 Cataract 1, Multiple Types 35
381 c CTR141 Cataract 21, Multiple Types 33
382 c CTR122 Cataract 5, Multiple Types 32
383 c CTR125 Cataract 7 31
384 c CTR145 Cataract 44 31
385 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
386 c CTR103 Cataract 4, Multiple Types 31
387 c CTR158 Cataract 37 31
388 c CTR095 Cataract 8, Multiple Types 29
389 c CTR096 Cataract 6, Multiple Types 29
390 c CTR102 Cataract 2, Multiple Types 28
391 c CTR175 Cataract 24 28
392 c CTR132 Cataract 3, Multiple Types 28
393 c CTR121 Cataract 25 28
394 c CTR174 Cataract 40 27
395 c CTR124 Cataract 10, Multiple Types 27
396 c CTR113 Cataract 11, Multiple Types 25
397 c CTR169 Cataract 29 25
398 c CTR166 Cataract 33, Multiple Types 22
399 c CTR131 Cataract 17, Multiple Types 22
400 c CTR181 Cataract 18 22
401 WBB001 Webb-Dattani Syndrome 22
402 c CTR180 Cataract 22, Multiple Types 22
403 c CTR184 Cataract 39, Multiple Types 22
404 c CTR162 Cataract 47 21
405 c CTR119 Cataract 32, Multiple Types 21
406 c CTR105 Cataract 12, Multiple Types 21
407 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
408 c CTR165 Cataract 19, Multiple Types 20
409 c CTR159 Cataract 35 20
410 c CTR182 Cataract 23, Multiple Types 20
411 c CTR116 Cataract 15, Multiple Types 20
412 c CTR183 Cataract 38 20
413 c CTR136 Cataract 41 20
414 c CTR097 Cataract 34, Multiple Types 20
415 c CTR111 Cataract 36 20
416 c CTR163 Cataract 46, Juvenile-Onset 19
417 c CTR139 Cataract 42 18
418 c CTR178 Cataract 27 18
419 c CTR157 Cataract 28 18
420 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 18
421 c CTR110 Cataract 26, Multiple Types 18
422 c CTR106 Cataract 20, Multiple Types 18
423 c CTR144 Cataract 43 18
424 c CTR185 Cataract 30 17
425 c CTR160 Cataract 45 17
426 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 16
427 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 16
428 c NPH101 Nephrotic Syndrome 16 15
429 c CTR128 Cataract 33 14
430 c CTR025 Cataract, Total Congenital 13
431 MPL011 Maple Syrup Urine Disease, Mild Variant 11
432 ACT006 Acute Gonococcal Cystitis 7
433 c CTR008 Cataract Congenital Autosomal Dominant 7
434 P TBR001 Tuberous Sclerosis 68
435 c TBR026 Tuberous Sclerosis 2 65
436 c TBR025 Tuberous Sclerosis 1 62
437 c WLM018 Wilms Tumor 5 60
438 INT067 Interstitial Nephritis 50
439 KRN001 Korean Hemorrhagic Fever 41
440 MLT084 Multicystic Dysplastic Kidney 41
441 RNL025 Renal Hypoplasia 39
442 c WLM011 Wilms Tumor 6 38
443 PYR004 Pyuria 35
444 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
445 KDN001 Kidney Cortex Necrosis 29
446 c JBR012 Joubert Syndrome 5 29
447 c JBR014 Joubert Syndrome 9 26
448 c JBR031 Joubert Syndrome 21 25
449 c JBR041 Joubert Syndrome 3 24
450 c JBR024 Joubert Syndrome 14 24
451 c JBR042 Joubert Syndrome 23 23
452 c JBR011 Joubert Syndrome 7 23
453 c JBR037 Joubert Syndrome 26 23
454 c JBR018 Joubert Syndrome 4 22
455 c JBR015 Joubert Syndrome 6 22
456 c JBR035 Joubert Syndrome 24 22
457 c JBR016 Joubert Syndrome 10 22
458 c JBR030 Joubert Syndrome 22 22
459 BRN134 Brain Malformations with or Without Urinary Tract Defects 22
460 THV001 Thauvin-Robinet-Faivre Syndrome 22
461 c JBR026 Joubert Syndrome 15 21
462 c JBR025 Joubert Syndrome 17 21
463 c JBR027 Joubert Syndrome 16 21
464 c JBR021 Joubert Syndrome 18 21
465 c JBR013 Joubert Syndrome 8 20
466 c JBR036 Joubert Syndrome 25 20
467 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 19
468 c JBR039 Joubert Syndrome 28 19
469 c JBR022 Joubert Syndrome 20 19
470 c JBR043 Joubert Syndrome 32 18
471 c JBR028 Joubert Syndrome 13 18
472 c JBR038 Joubert Syndrome 27 18
473 c JBR040 Joubert Syndrome 30 18
474 c JBR045 Joubert Syndrome 33 18
475 BRK013 Birk-Landau-Perez Syndrome 17
476 c JBR044 Joubert Syndrome 31 16
477 CFH006 Cfhr5 Deficiency 15
478 TBL026 Tubulocystic Renal Cell Carcinoma 14
479 BLT024 Bilateral Renal Aplasia 13
480 P CTS001 Cutis Laxa 62
481 RNL077 Renal Fibrosis 48
482 KDN015 Kidney Angiomyolipoma 47
483 FML031 Female Stress Incontinence 40
484 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
485 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
486 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
487 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
488 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
489 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
490 c KDN016 Kidney Benign Neoplasm 31
491 NPH006 Nephrogenic Adenofibroma 31
492 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
493 RNL001 Renal Artery Obstruction 30
494 c ACQ027 Acquired Cutis Laxa 29
495 CLR112 Clear Cell Papillary Renal Cell Carcinoma 28
496 CLL007 Cellular Congenital Mesoblastic Nephroma 28
497 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
498 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
499 P RNL123 Renal Agenesis, Bilateral 25
500 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
501 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
502 P ADL014 Adult Mesoblastic Nephroma 25
503 IMP003 Impaired Renal Function Disease 25
504 EPT005 Epithelial Predominant Wilms' Tumor 24
505 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 23
506 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
507 HYP683 Hypogonadism-Cataract Syndrome 22
508 c INT262 Intermediate Maple Syrup Urine Disease 22
509 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 21
510 c ATP003 Atp6v0a2-Related Cutis Laxa 21
511 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
512 BRN121 Branchiootorenal/branchiootic Syndrome 20
513 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 20
514 FRS010 Forsythe-Wakeling Syndrome 19
515 c BLD040 Bladder Benign Neoplasm 19
516 TFR002 Tafro Syndrome 19
517 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
518 KDN004 Kidney Hemangiopericytoma 17
519 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 17
520 c FML028 Familial Renal Oncocytoma 17
521 UNL014 Unilateral Multicystic Dysplastic Kidney 17
522 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 17
523 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 16
524 MTH075 Methionine Malabsorption Syndrome 16
525 NPH097 Nephrosialidosis 16
526 NLP003 Nail-Patella-Like Renal Disease 16
527 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 15
528 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
529 RNL109 Renal Hypoplasia, Bilateral 15
530 c EFM001 Efemp2-Related Cutis Laxa 14
531 c LTN020 Late-Onset Nephronophthisis 14
532 c LTB003 Ltbp4-Related Cutis Laxa 14
533 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 13
534 RNL116 Renal and Mullerian Duct Hypoplasia 13
535 BLS005 Blastema Predominant Kidney Wilms' Tumor 13
536 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 13
537 SNR014 Senior-Boichis Syndrome 13
538 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
539 STR009 Stromal Predominant Kidney Wilms' Tumor 12
540 MXD009 Mixed Cell Type Kidney Wilms' Tumor 12
541 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
542 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 12
543 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
544 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12
545 c RNL016 Renal Infectious Disease 11
546 PX2001 Pax2-Related Disorder 11
547 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 10
548 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 10
549 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
550 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
551 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
552 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 8
553 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
554 RNL010 Renal Pelvis Inverted Papilloma 8
555 c FBL003 Fbln5-Related Cutis Laxa 8
556 NPH050 Nephropathy, Progressive, with Deafness 8
557 RNL107 Renal Dysplasia, Bilateral 8
558 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
559 c KDN012 Kidney Carcinoma in Situ 7
560 CNG337 Congenital Renal Artery Stenosis 7
561 RNL106 Renal Dysplasia, Unilateral 7
562 RNL108 Renal Hypoplasia, Unilateral 6
563 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
564 CLS004 Classic Congenital Mesoblastic Nephroma 6
565 CHL044 Childhood Kidney Angiomyolipoma 6
566 c MLG004 Malignant Hypertensive Renal Disease 6
567 KLL010 Kallikrein, Decreased Urinary Activity of 6
568 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
569 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
570 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 6
571 HRD003 Hereditary Conventional Renal Cell Carcinoma 6
572 BLD004 Bladder Urachal Urothelial Carcinoma 5
573 BLD050 Bladder Urachal Carcinoma 5
574 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
575 DRG019 Drug-Related Renal Tubular Dysgenesis 5
576 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
577 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 5
578 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 5
579 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 5
580 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
581 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
582 RNL020 Renal Pelvis Urothelial Papilloma 4
583 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
584 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
585 GLY095 Glycoprotein, Renal 4
586 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 4
587 BLD024 Bladder Squamous Papilloma 4
588 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
589 c RNL049 Renal Tubular Acidosis, Distal, Type 4 4
590 GLL001 Gall Bladder Carcinoma in Situ 3
591 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
592 PLM171 Pulmonic Stenosis and Congenital Nephrosis 3
593 NPH099 Nephropathy, Chronic Tubulointerstitial 3
594 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 3
595 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
596 RNL030 Renal Adysplasia Dominant Type 2
597 RNL031 Renal Agenesis Meningomyelocele Mullerian Defect 2
598 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 2
599 P AMY004 Amyloidosis 68
600 P CNG411 Congenital Disorder of Glycosylation, Type in 62
601 P PLY014 Polycystic Kidney Disease 60
602 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
603 P PYL005 Pyelonephritis 56
604 P SMP003 Simpson-Golabi-Behmel Syndrome 55
605 P DBT005 Diabetes Insipidus 54
606 P PRM002 Primary Hyperoxaluria 53
607 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
608 c INV001 Invasive Aspergillosis 52
609 P RNV001 Renovascular Hypertension 49
610 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
611 HYD002 Hydronephrosis 48
612 c HRD039 Hereditary Amyloidosis 48
613 P RPD001 Rapidly Progressive Glomerulonephritis 47
614 P PSD003 Pseudohypoaldosteronism 47
615 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
616 c ACT042 Acute Pyelonephritis 46
617 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
618 HYP347 Hypotonia-Cystinuria Syndrome 46
619 IDP073 Idiopathic Hypercalciuria 45
620 VTR016 Vater/vacterl Association 45
621 LPP002 Lipoprotein Glomerulopathy 44
622 CRS001 Crescentic Glomerulonephritis 44
623 P PRL003 Proliferative Glomerulonephritis 44
624 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 44
625 URT001 Urethritis 43
626 PRP056 Porphyria, Acute Hepatic 42
627 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 42
628 c BRT050 Bartter Syndrome, Type 2, Antenatal 42
629 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
630 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 41
631 c HYP794 Hyperoxaluria, Primary, Type I 41
632 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
633 URT004 Urethral Syndrome 40
634 EPS026 Epispadias 40
635 PDT035 Pediatric Systemic Lupus Erythematosus 40
636 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
637 P XNT004 Xanthinuria 39
638 P HRD086 Hereditary Hypophosphatemic Rickets 39
639 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
640 URT014 Ureterolithiasis 38
641 c CHR098 Chronic Pyelonephritis 37
642 PYL004 Pyelitis 37
643 c HYP602 Hyperoxaluria, Primary, Type Ii 37
644 ACT040 Acute Poststreptococcal Glomerulonephritis 37
645 URT016 Urethral Diverticulum 37
646 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
647 c PSD092 Pseudohypoaldosteronism, Type Iie 36
648 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
649 URT037 Urethral Stricture 35
650 c TYP024 Type Ii Mixed Cryoglobulinemia 35
651 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
652 P ANT061 Antenatal Bartter Syndrome 34
653 c CNG379 Congenital Disorder of Glycosylation, Type It 34
654 PRN007 Perinephritis 34
655 c PRP091 Porphyria Cutanea Tarda, Type I 33
656 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
657 KLL014 Kelley-Seegmiller Syndrome 33
658 c PSD090 Pseudohypoaldosteronism, Type Iia 32
659 c ACT079 Acute Proliferative Glomerulonephritis 32
660 c BRT052 Bartter Syndrome, Type 1, Antenatal 31
661 DFF015 Diffuse Glomerulonephritis 31
662 OSC001 Oeis Complex 31
663 XNT001 Xanthogranulomatous Pyelonephritis 31
664 PLM007 Pulmonary Aspergilloma 31
665 RDT001 Radiation Cystitis 31
666 c HYP603 Hyperoxaluria, Primary, Type Iii 30
667 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
668 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
669 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
670 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
671 c HRD142 Hereditary Xanthinuria 30
672 TRG001 Trigonitis 30
673 c CNG188 Congenital Disorder of Glycosylation, Type if 30
674 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
675 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
676 c RBN008 Rubinstein-Taybi Syndrome 2 29
677 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
678 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
679 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
680 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
681 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
682 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
683 ORT001 Orthostatic Proteinuria 28
684 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
685 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
686 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
687 KDN013 Kidney Hypertrophy 27
688 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
689 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
690 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
691 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
692 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
693 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
694 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
695 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
696 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
697 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
698 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25
699 c PSD093 Pseudohypoaldosteronism, Type Iid 24
700 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
701 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
702 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
703 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
704 HVY003 Heavy Chain Deposition Disease 23
705 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
706 c MLG003 Malignant Renovascular Hypertension 23
707 c FML324 Familial Porphyria Cutanea Tarda 22
708 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
709 P ACR072 Acrorenal Syndrome 22
710 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
711 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
712 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
713 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
714 c HML035 Hemolytic Uremic Syndrome, Atypical 2 22
715 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
716 MSC089 Mosaic Monosomy X 21
717 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
718 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 21
719 c SBC010 Subacute Glomerulonephritis 20
720 c PRM150 Primary Localized Amyloidosis 19
721 THY105 Thyrocerebroretinal Syndrome 19
722 EXD002 Exudative Glomerulonephritis 19
723 c PSD068 Pseudohypoaldosteronism, Type Iic 18
724 c PSD047 Pseudo-Turner Syndrome 18
725 c PSD094 Pseudohypoaldosteronism, Type Iib 18
726 c SYS066 Systemic Polyarteritis Nodosa 18
727 KDN009 Kidney Fibrosarcoma 17
728 c HRD156 Hereditary Central Diabetes Insipidus 17
729 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
730 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
731 c PLY141 Polycystic Kidney Disease 5 16
732 ATR053 Atresia of Urethra 16
733 CNG330 Congenital Megacalycosis 16
734 c TRN053 Transient Pseudohypoaldosteronism 16
735 c AHM002 Ah Amyloidosis 15
736 c ACQ034 Acquired Central Diabetes Insipidus 15
737 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 15
738 IGG011 Igg4-Related Kidney Disease 15
739 ACR109 Acropectororenal Dysplasia 14
740 P CNG326 Congenital Primary Megaureter 14
741 LGH014 Light and Heavy Chain Deposition Disease 14
742 GNR029 Generalized Galactose Epimerase Deficiency 14
743 PTN009 Patent Urachus 13
744 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 13
745 c MXD037 Mixed Cryoglobulinemia Type Iii 12
746 APV001 Aapoaiv Amyloidosis 12
747 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
748 CLL035 Collagen Type Iii Glomerulopathy 12
749 P ANT062 Anterior Urethral Valve 11
750 KDN014 Kidney Leiomyosarcoma 11
751 ACT041 Acute Diffuse Nephritis 11
752 URC013 Urachal Diverticulum 11
753 PYL001 Pyeloureteritis Cystica 11
754 c PRM222 Primary Polyarteritis Nodosa 11
755 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
756 URC012 Urachal Sinus 10
757 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
758 c PLY176 Polycystic Kidney Disease 4 8
759 KDN003 Kidney Lipoma 8
760 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 8
761 MGC005 Megacystis-Megaureter Syndrome 8
762 c SCN055 Secondary Polyarteritis Nodosa 8
763 c BNG028 Benign Renovascular Hypertension 8
764 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
765 P JVN036 Juvenile Sialidosis Type 2 7
766 c CNG348 Congenital Sialidosis Type 2 7
767 SNG013 Single-Organ Polyarteritis Nodosa 7
768 c ACR048 Acrorenal Syndrome Recessive 7
769 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
770 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
771 MTC002 Metachronous Kidney Wilms' Tumor 6
772 P RBN007 Rubinstein Taybi Like Syndrome 5
773 NNC001 Non-Congenital Cyst of Kidney 5
774 UNL009 Unilateral Congenital Megacalycosis 5
775 CNG331 Congenital Bilateral Megacalycosis 5
776 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
777 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
778 ANT002 Anti-Basement Membrane Glomerulonephritis 5
779 STR004 Stricture or Kinking of Ureter 4
780 c PRM147 Primary Megaureter, Adult-Onset Form 4
781 BNG089 Benign Metanephric Tumour 4
782 CNG270 Congenital Primary Megaureter, Obstructed Form 4
783 CNG269 Congenital Primary Megaureter, Refluxing Form 4
784 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
785 FCL004 Focal Embolic Glomerulonephritis 3
786 RNL065 Renal Cell Carcinoma, Papillary, 1 70
787 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 22
788 RNL114 Renal Cell Carcinoma, Nonpapillary 59
789 CLR030 Clear Cell Renal Cell Carcinoma 49
790 CHR177 Chromophobe Renal Cell Carcinoma 55
791 RNL119 Renal Cell Carcinoma, Xp11-Associated 30
792 P KDN017 Kidney Cancer 58
793 P INT143 Interstitial Cystitis 62
794 c CHR020 Chronic Interstitial Cystitis 43
795 BLD039 Bladder Adenocarcinoma 38
796 ALP046 Alport Syndrome, X-Linked 75
797 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 48
798 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 18
799 BLD064 Bladder Cancer, Childhood 6
800 c ALM001 Al Amyloidosis 57
801 c AMY009 Amyloidosis Aa 53
802 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42
803 DNY001 Denys-Drash Syndrome 53
804 RNL011 Renal Osteodystrophy 49
805 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
806 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 21
807 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 12
808 RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 11
809 BLD031 Bladder Signet Ring Cell Adenocarcinoma 11
810 LWC002 Lowe Oculocerebrorenal Syndrome 61
811 P BRN006 Branchiootorenal Syndrome 47
812 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 46
813 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 44
814 GNT031 Genitopatellar Syndrome 41
815 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
816 CYS045 Cystinosis, Adult Nonnephropathic 22
817 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 20
818 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 20
819 FNC009 Fanconi-Bickel Syndrome 53
820 RNL089 Renal Nutcracker Syndrome 20
821 RNL112 Renal, Genital, and Middle Ear Anomalies 17
822 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 12
823 BLD043 Bladder Clear Cell Adenocarcinoma 8
824 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 7
825 P JBR020 Joubert Syndrome 1 67
826 P FCL005 Focal Segmental Glomerulosclerosis 59
827 NPH018 Nephrogenic Systemic Fibrosis 55
828 P ALP074 Alport Syndrome, Autosomal Dominant 45
829 JBR006 Joubert Syndrome with Oculorenal Anomalies 43
830 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
831 GTL001 Gitelman Syndrome 63
832 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
833 CRN239 Carnitine Deficiency, Systemic Primary 53
834 KDN007 Kidney Clear Cell Sarcoma 37
835 ACR102 Acrorenal-Mandibular Syndrome 29
836 RHY001 Rhyns Syndrome 27
837 RNL004 Renal Pelvis Adenocarcinoma 27
838 DNM003 Daneman Davy Mancer Syndrome 11
839 STK001 Saito Kuba Tsuruta Syndrome 9
840 TRN018 Transitional Cell Carcinoma 61
841 CYS010 Cystinosis 54
842 MDL009 Medullary Sponge Kidney 45
843 SRC002 Sarcomatoid Renal Cell Carcinoma 43
844 CHL010 Childhood Kidney Cell Carcinoma 43
845 DCR008 Dicarboxylic Aminoaciduria 37
846 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 33
847 MRC004 Murcs Association 32
848 RNL009 Renal Pelvis Squamous Cell Carcinoma 14
849 RNL032 Renal Caliceal Diverticuli Deafness 11
850 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 8
851 BLD014 Bladder Colonic Type Adenocarcinoma 7
852 KDN008 Kidney Pelvis Papillary Carcinoma 7
853 BLD010 Bladder Colloid Adenocarcinoma 6
854 GRN023 Green Sandford Davison Syndrome 6
855 NPH025 Nephrotic Syndrome Ocular Anomalies 5
856 HST006 Histidinemia 45
857 STR094 Stromme Syndrome 35
858 c TWN011 Townes-Brocks Syndrome 1 32
859 c JBR004 Joubert Syndrome 2 27
860 ARD001 Aredyld 25
861 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 23
862 c TWN010 Townes-Brocks Syndrome 2 22
863 SLC010 Salcedo Syndrome 6
864 c ATS347 Autosomal Dominant Polycystic Kidney Disease 60
865 c PRX045 Peroxisome Biogenesis Disorder 1b 56
866 P BRT004 Bartter Disease 51
867 c BRT042 Bartter Syndrome, Type 3 41
868 c PRX059 Peroxisome Biogenesis Disorder 1a 40
869 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 33
870 c PRX055 Peroxisome Biogenesis Disorder 11a 32
871 c PRX063 Peroxisome Biogenesis Disorder 2a 29
872 c PRX060 Peroxisome Biogenesis Disorder 5a 28
873 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 28
874 c PRX053 Peroxisome Biogenesis Disorder 14b 27
875 c PRX056 Peroxisome Biogenesis Disorder 11b 27
876 c PRX054 Peroxisome Biogenesis Disorder 12a 26
877 c PRX065 Peroxisome Biogenesis Disorder 3a 24
878 c PRX091 Peroxisome Biogenesis Disorder 8a 24
879 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 24
880 c PRX057 Peroxisome Biogenesis Disorder 4a 24
881 c PRX048 Peroxisome Biogenesis Disorder 10a 24
882 c PRX046 Peroxisome Biogenesis Disorder 7a 24
883 c PRX052 Peroxisome Biogenesis Disorder 13a 23
884 c PRX043 Peroxisome Biogenesis Disorder 6b 22
885 c PRX051 Peroxisome Biogenesis Disorder 6a 22
886 c PRX050 Peroxisome Biogenesis Disorder 9b 22
887 c PRX058 Peroxisome Biogenesis Disorder 4b 22
888 c PRX047 Peroxisome Biogenesis Disorder 5b 22
889 c PRX062 Peroxisome Biogenesis Disorder 8b 21
890 c PRX066 Peroxisome Biogenesis Disorder 3b 20
891 P PRX064 Peroxisome Biogenesis Disorder 2b 19
892 c BRT024 Bartter Syndrome Type 4 19
893 c PRX068 Peroxisome Biogenesis Disorder 7b 18
894 c PRX089 Peroxisome Biogenesis Disorder 10b 18
895 ELL004 Ellis Yale Winter Syndrome 8
896 LCH006 Lachiewicz Sibley Syndrome 6
897 c MLG074 Malignant Mesenchymoma 54
898 FRY002 Fryns Syndrome 42
899 P MSN006 Mesenchymoma 36
900 KDN019 Kidney Sarcoma 36
901 DFF021 Diffuse Mesangial Sclerosis 36
902 KDN002 Kidney Rhabdoid Cancer 26
903 c BNG012 Benign Mesenchymoma 23
904 HLZ001 Holzgreve Syndrome 21
905 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 21
906 VSC014 Vascular Hyalinosis 18
907 LBN003 Lubinsky Syndrome 18
908 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
909 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 14
910 c ADL020 Adult Malignant Mesenchymoma 14
911 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 14
912 URT041 Urethral Obstruction Sequence 12
913 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 10
914 VCT003 Vacterl Hydrocephaly 9
915 c RNL048 Renal Tubular Acidosis, Distal, Type 3 9
916 BLD021 Bladder Urachal Adenocarcinoma 7
917 BLD018 Bladder Hepatoid Adenocarcinoma 6
918 SLG001 Selig Benacerraf Greene Syndrome 6
919 KRN006 Karandikar Maria Kamble Syndrome 6
920 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
921 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
922 BNR003 Ben Ari Shuper Mimouni Syndrome 5
923 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 5
924 ALS004 Alsing Syndrome 5
925 FRS005 Fraser Jequier Chen Syndrome 5
926 BLD017 Bladder Mixed Adenocarcinoma 4
927 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
928 ALL011 Allain-Babin-Demarquez Syndrome 4
929 GRL001 Gorlin Bushkell Jensen Syndrome 4
930 BLL008 Billet Bear Syndrome 3
931 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
932 NPH022 Nephropathy Familial with Hyperuricemia 3
933 c SYS001 Systemic Lupus Erythematosus 86
934 P FNC027 Fanconi Anemia, Complementation Group a 78
935 FBR012 Fabry Disease 71
936 P NRF023 Neurofibromatosis, Type Ii 68
937 P LPS004 Lupus Erythematosus 68
938 P TRN020 Turner Syndrome 68
939 BHC003 Behcet Syndrome 67
940 P PSD087 Pseudoxanthoma Elasticum 67
941 c NRF024 Neurofibromatosis, Type I 66
942 TKY002 Takayasu Arteritis 66
943 P ASP006 Aspergillosis 65
944 GLC006 Galactosemia 65
945 ADL030 Adult-Onset Still's Disease 64
946 WLL001 Williams-Beuren Syndrome 63
947 CYS013 Cystinuria 63
948 P BRD002 Bardet-Biedl Syndrome 62
949 PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 62
950 MTH078 Methylmalonic Aciduria, Cblb Type 61
951 PRP083 Porphyria, Acute Intermittent 61
952 P GLM007 Glomerulonephritis 61
953 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
954 ELL001 Ellis-Van Creveld Syndrome 60
955 NRM005 Neuromuscular Disease 60
956 c BRD014 Bardet-Biedl Syndrome 2 58
957 PRT118 Protoporphyria, Erythropoietic 58
958 P BCK002 Beckwith-Wiedemann Syndrome 57
959 MCR088 Microscopic Polyangiitis 57
960 c FRC011 Fructose Intolerance, Hereditary 56
961 P PLY041 Polymyositis 56
962 PRP082 Porphyria, Congenital Erythropoietic 55
963 PRP032 Porphyria Variegata 55
964 RLP001 Relapsing Polychondritis 54
965 c BRD010 Bardet-Biedl Syndrome 1 54
966 APP015 Apparent Mineralocorticoid Excess 54
967 LDD002 Liddle Syndrome 54
968 ALS001 Alstrom Syndrome 54
969 P CRN108 Cranioectodermal Dysplasia 1 53
970 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 53
971 BRT002 Birt-Hogg-Dube Syndrome 53
972 c PSD066 Pseudohypoparathyroidism, Type Ib 53
973 PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52
974 HMG002 Hemoglobinuria 52
975 P PLY017 Polyarteritis Nodosa 51
976 P FNC043 Fanconi Anemia, Complementation Group E 51
977 FRS002 Frasier Syndrome 50
978 PTS001 Patau Syndrome 50
979 MMB001 Membranoproliferative Glomerulonephritis 50
980 P PSD015 Pseudohypoparathyroidism 50
981 c PST041 Posterior Urethral Valves 49
982 CTY001 Cat Eye Syndrome 49
983 c FNC042 Fanconi Anemia, Complementation Group D2 49
984 HRT031 Hartnup Disorder 47
985 LGH004 Light Chain Deposition Disease 47
986 NRM019 Neuraminidase Deficiency 46
987 c BRD012 Bardet-Biedl Syndrome 11 45
988 c BRD044 Bardet-Biedl Syndrome 17 45
989 FSH001 Fish-Eye Disease 45
990 GLC011 Galactose Epimerase Deficiency 45
991 MSN001 Mesangial Proliferative Glomerulonephritis 44
992 c BRD013 Bardet-Biedl Syndrome 12 44
993 c XNT010 Xanthinuria, Type I 43
994 c BRD016 Bardet-Biedl Syndrome 4 42
995 c BRD048 Bardet-Biedl Syndrome 18 42
996 c BRD033 Bardet-Biedl Syndrome 13 41
997 GLC004 Galactokinase Deficiency 41
998 c BRD011 Bardet-Biedl Syndrome 10 41
999 c BRD020 Bardet-Biedl Syndrome 8 40
1000 c BRD015 Bardet-Biedl Syndrome 3 40
1001 c BRD032 Bardet-Biedl Syndrome 14 40
1002 c BRD018 Bardet-Biedl Syndrome 6 39
1003 CMP042 Complement Factor H Deficiency 39
1004 c BRD035 Bardet-Biedl Syndrome 15 38
1005 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38
1006 IMM001 Immune-Complex Glomerulonephritis 38
1007 c BRD017 Bardet-Biedl Syndrome 5 37
1008 c PSD117 Pseudohypoparathyroidism, Type Ic 36
1009 c FNC045 Fanconi Anemia, Complementation Group F 36
1010 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
1011 c SYS061 Systemic Lupus Erythematosus 16 35
1012 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
1013 c XNT011 Xanthinuria, Type Ii 34
1014 PTT002 Potter's Syndrome 34
1015 c BRD045 Bardet-Biedl Syndrome 19 34
1016 PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 33
1017 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1018 c BRD047 Bardet-Biedl Syndrome 16 33
1019 CTN019 Cutaneous Polyarteritis Nodosa 32
1020 PCM002 Pauci-Immune Glomerulonephritis 30
1021 INT258 Interstitial Nephritis, Karyomegalic 29
1022 c FNC062 Fanconi Anemia, Complementation Group S 29
1023 c FNC023 Fanconi Anemia, Complementation Group N 29
1024 c FNC028 Fanconi Anemia, Complementation Group L 29
1025 c BRD019 Bardet-Biedl Syndrome 7 28
1026 c CRN109 Cranioectodermal Dysplasia 2 28
1027 TBL025 Tubulointerstitial Nephritis with Uveitis 28
1028 c FNC024 Fanconi Anemia, Complementation Group D1 28
1029 c ALG016 Alagille Syndrome 2 27
1030 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 26
1031 MTH077 Methylmalonic Aciduria, Cbla Type 26
1032 HYP648 Hypertension and Brachydactyly Syndrome 26
1033 c SYS043 Systemic Lupus Erythematosus 1 25
1034 c BRD050 Bardet-Biedl Syndrome 21 25
1035 c FNC048 Fanconi Anemia, Complementation Group O 25
1036 c FNC029 Fanconi Anemia, Complementation Group I 24
1037 c CRN111 Cranioectodermal Dysplasia 4 24
1038 HYP344 Hyperthyroidism, Familial Gestational 23
1039 c FNC046 Fanconi Anemia, Complementation Group P 23
1040 c BRD021 Bardet-Biedl Syndrome 9 23
1041 AXL004 Axial Mesodermal Dysplasia Spectrum 23
1042 c CRN110 Cranioectodermal Dysplasia 3 23
1043 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 23
1044 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
1045 FBR085 Fibrillary Glomerulonephritis 22
1046 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 22
1047 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
1048 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
1049 c BRD051 Bardet-Biedl Syndrome 20 22
1050 c FNC047 Fanconi Anemia, Complementation Group Q 22
1051 URC005 Urachal Cyst 21
1052 c SYS038 Systemic Lupus Erythematosus 2 21
1053 c FNC061 Fanconi Anemia, Complementation Group W 21
1054 c FNC025 Fanconi Anemia, Complementation Group J 21
1055 FCC002 Faciocardiorenal Syndrome 20
1056 c FNC057 Fanconi Anemia, Complementation Group U 20
1057 c FNC058 Fanconi Anemia, Complementation Group R 20
1058 c FNC052 Fanconi Anemia, Complementation Group T 20
1059 c FNC056 Fanconi Anemia, Complementation Group V 19
1060 URM001 Uremic Neuropathy 19
1061 NNM007 Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 18
1062 DYS180 Dyschondrosteosis and Nephritis 18
1063 c JVN046 Juvenile Polymyositis 18
1064 c SYS046 Systemic Lupus Erythematosus 3 18
1065 c SYS069 Systemic Lupus Erythematosus 6 17
1066 c SYS053 Systemic Lupus Erythematosus 5 17
1067 c SYS041 Systemic Lupus Erythematosus 9 15
1068 c SYS040 Systemic Lupus Erythematosus 10 15
1069 INF059 Infundibulopelvic Dysgenesis 15
1070 P ACQ013 Acquired Fructose Intolerance 14
1071 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1072 DPL007 Duplication of Urethra 14
1073 c SYS065 Systemic Lupus Erythematosus 11 14
1074 c SYS055 Systemic Lupus Erythematosus 12 13
1075 NRS002 Neuroaspergillosis 13
1076 c SYS051 Systemic Lupus Erythematosus 4 13
1077 c SYS047 Systemic Lupus Erythematosus 7 13
1078 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
1079 c SYS048 Systemic Lupus Erythematosus 8 11
1080 c SYS052 Systemic Lupus Erythematosus 13 11
1081 c SYS045 Systemic Lupus Erythematosus 14 11
1082 c SYS067 Systemic Lupus Erythematosus 15 10
1083 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
1084 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1085 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 8
1086 URT019 Urethral Gland Abscess 8
1087 GLB017 Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 8
1088 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1089 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1090 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
1091 AMY082 Amyloidosis, Familial Visceral 46
1092 P OST001 Osteopetrosis 61
1093 c OST131 Osteopetrosis, Autosomal Dominant 2 43
1094 c ATS282 Autosomal Recessive Malignant Osteopetrosis 40
1095 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1096 c OST163 Osteopetrosis, Autosomal Recessive 3 33
1097 c OST129 Osteopetrosis, Autosomal Recessive 2 32
1098 c OST134 Osteopetrosis, Autosomal Recessive 6 30
1099 c OST136 Osteopetrosis, Autosomal Recessive 7 25
1100 c OST125 Osteopetrosis, Autosomal Dominant 1 23
1101 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1102 c OST120 Osteopetrosis, Autosomal Recessive 5 23
1103 c OST137 Osteopetrosis, Autosomal Recessive 4 22
1104 c CLC009 Clcn7-Related Osteopetrosis 9
1105 CLL002 Collecting Duct Carcinoma 43
1106 SCH016 Schimke Immunoosseous Dysplasia 47
1107 P MLN066 Melanoma, Cutaneous Malignant 1 59
1108 c MLN043 Melanoma, Cutaneous Malignant 8 27
1109 c MLN067 Melanoma, Cutaneous Malignant 2 20
1110 c MLN075 Melanoma, Cutaneous Malignant 3 19
1111 c MLN077 Melanoma, Cutaneous Malignant 9 18
1112 c MLN055 Melanoma, Cutaneous Malignant 10 16
1113 c MLN076 Melanoma, Cutaneous Malignant 5 16
1114 c MLN042 Melanoma, Cutaneous Malignant 6 15
1115 c MLN074 Melanoma, Cutaneous Malignant 4 15
1116 c MLN040 Melanoma, Cutaneous Malignant 7 14
1117 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 41
1118 SMT004 Smith-Lemli-Opitz Syndrome 68
1119 P TWN003 Townes-Brocks Syndrome 58
1120 MCK007 Muckle-Wells Syndrome 64
1121 P HML001 Hemolytic-Uremic Syndrome 50
1122 c ALP073 Alport Syndrome, Autosomal Recessive 48
1123 DNR002 Duane-Radial Ray Syndrome 43
1124 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1125 GDP001 Goodpasture Syndrome 55
1126 HPT014 Hepatorenal Syndrome 49
1127 MLL009 Mullerian Aplasia 24
1128 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
1129 DNN002 Donnai-Barrow Syndrome 43
1130 3MC003 3mc Syndrome 42
1131 LYM029 Lymphedema-Distichiasis Syndrome 41
1132 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 28
1133 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
1134 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 16
1135 KDN010 Kidney Osteogenic Sarcoma 13
1136 c RNL034 Renal Cell Carcinoma 4 11
1137 SNT001 Santos Mateus Leal Syndrome 9
1138 c RNL033 Renal Carcinoma, Familial 5
1139 P NNN008 Noonan Syndrome 1 77
1140 P FML018 Familial Mediterranean Fever 73
1141 SCK003 Sickle Cell Anemia 72
1142 WLS001 Wilson Disease 71
1143 WGN006 Wegener Granulomatosis 70
1144 c BTT014 Beta-Thalassemia 69
1145 P SYS005 Systemic Scleroderma 66
1146 P SRC025 Sarcoidosis 1 66
1147 P TMP003 Temporal Arteritis 66
1148 MXD005 Mixed Connective Tissue Disease 65
1149 P THL005 Thalassemia 64
1150 c GLY008 Glycogen Storage Disease Ii 64
1151 c LCL006 Localized Scleroderma 64
1152 c SCL052 Scleroderma, Familial Progressive 64
1153 P DRM010 Dermatomyositis 64
1154 VLC001 Velocardiofacial Syndrome 63
1155 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1156 P THR005 Thrombotic Thrombocytopenic Purpura 63
1157 P HYP802 Hypocalcemia, Autosomal Dominant 1 62
1158 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1159 P GLY013 Glycogen Storage Disease 61
1160 ALP103 Alpha-1-Antitrypsin Deficiency 61
1161 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1162 c ALP101 Alpha-Thalassemia 59
1163 PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 58
1164 c ORF040 Orofaciodigital Syndrome Viii 58
1165 c GLY060 Glycogen Storage Disease Ia 57
1166 P ALL008 Allergic Bronchopulmonary Aspergillosis 57
1167 P HML033 Hemolytic Uremic Syndrome, Atypical 1 56
1168 c HYP731 Hyperaldosteronism, Familial, Type I 56
1169 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1170 CHL028 Childhood Type Dermatomyositis 56
1171 CPR004 Coproporphyria, Hereditary 56
1172 c GLY003 Glycogen Storage Disease Iii 55
1173 NLP001 Nail-Patella Syndrome 55
1174 c TYR012 Tyrosinemia, Type I 54
1175 c GLY004 Glycogen Storage Disease V 54
1176 DFF035 Diffuse Cutaneous Systemic Sclerosis 52
1177 c GLY007 Glycogen Storage Disease Iv 51
1178 c GLY005 Glycogen Storage Disease Vi 51
1179 P OLV001 Olivopontocerebellar Atrophy 50
1180 c RBN021 Rubinstein-Taybi Syndrome 1 49
1181 c NNN010 Noonan Syndrome 3 49
1182 LMT001 Limited Scleroderma 49
1183 P TYR004 Tyrosinemia 48
1184 c ORF037 Orofaciodigital Syndrome I 48
1185 P ORF001 Orofaciodigital Syndrome 48
1186 c GLY011 Glycogen Storage Disease Vii 48
1187 RYN003 Reynolds Syndrome 47
1188 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 47
1189 c TYR013 Tyrosinemia, Type Ii 46
1190 c TYR011 Tyrosinemia, Type Iii 42
1191 c ORF034 Orofaciodigital Syndrome Vi 42
1192 c ADL027 Adult Dermatomyositis 40
1193 c GLY098 Glycogen Storage Disease, Type Ixd 40
1194 HYP193 Hypocomplementemic Urticarial Vasculitis 37
1195 c GLY016 Glycogen Storage Disease Ib 35
1196 P FML156 Familial Hyperaldosteronism 35
1197 c NNN012 Noonan Syndrome 5 34
1198 c GLY023 Glycogen Storage Disease Type 0 34
1199 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
1200 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 34
1201 c ORF035 Orofaciodigital Syndrome Iv 34
1202 c NNN011 Noonan Syndrome 4 32
1203 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1204 c GLY044 Glycogen Storage Disease Ixc 31
1205 P GLM015 Glomerulopathy with Fibronectin Deposits 2 30
1206 c SRC023 Sarcoidosis 2 29
1207 c GLY057 Glycogen Storage Disease X 29
1208 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1209 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1210 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1211 c GLY017 Glycogen Storage Disease Ic 28
1212 c NNN021 Noonan Syndrome 8 28
1213 c NNN024 Noonan Syndrome 9 27
1214 IDP085 Idiopathic Infantile Hypercalcemia 27
1215 c ORF033 Orofaciodigital Syndrome V 27
1216 c GLY043 Glycogen Storage Disease Xii 27
1217 c NNN025 Noonan Syndrome 10 26
1218 c GLY097 Glycogen Storage Disease Ixb 26
1219 c NNN013 Noonan Syndrome 6 26
1220 c GLY009 Glycogen Storage Disease Xv 26
1221 c NNN009 Noonan Syndrome 2 26
1222 c ORF038 Orofaciodigital Syndrome Iii 25
1223 c ORF041 Orofaciodigital Syndrome X 25
1224 c ORF043 Orofaciodigital Syndrome Ix 24
1225 c ORF036 Orofaciodigital Syndrome Xiv 24
1226 c ORF042 Orofaciodigital Syndrome Xi 23
1227 c NNN020 Noonan Syndrome 7 23
1228 c JVN019 Juvenile Temporal Arteritis 23
1229 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 23
1230 c ORF046 Orofaciodigital Syndrome Xvi 23
1231 IMM053 Immunotactoid Glomerulopathy 23
1232 c GLY059 Glycogen Storage Disease Xiii 22
1233 c ORF045 Orofaciodigital Syndrome Xv 22
1234 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1235 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
1236 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 20
1237 c GLY006 Glycogen Storage Disease Viii 20
1238 NRF010 Neurofaciodigitorenal Syndrome 20
1239 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
1240 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
1241 c ORF052 Orofaciodigital Syndrome Xviii 18
1242 c ORF051 Orofaciodigital Syndrome Xvii 18
1243 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
1244 c GLM014 Glomerulopathy with Fibronectin Deposits 1 18
1245 c GLY093 Glycogen Storage Disease Ixa 17
1246 c SRC024 Sarcoidosis 3 16
1247 c ORF039 Orofaciodigital Syndrome Vii 15
1248 GRH002 Graham Boyle Troxell Syndrome 15
1249 c OLV005 Olivopontocerebellar Atrophy V 14
1250 c ORF006 Orofaciodigital Syndrome 13 13
1251 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
1252 c ORF005 Orofaciodigital Syndrome 12 13
1253 c GLY001 Glycogen Storage Disease Ix 12
1254 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1255 VSC006 Vascular Cancer 47
1256 MYL069 Myeloma, Multiple 83
1257 P ALG028 Alagille Syndrome 1 73
1258 ADR054 Adrenocortical Carcinoma, Hereditary 70
1259 VNH007 Von Hippel-Lindau Syndrome 69
1260 P PRP003 Porphyria Cutanea Tarda 66
1261 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1262 LSC001 Lesch-Nyhan Syndrome 62
1263 BRG013 Buerger Disease 62
1264 PSD014 Pseudopseudohypoparathyroidism 55
1265 P CRY007 Cryoglobulinemia, Familial Mixed 54
1266 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
1267 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
1268 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 48
1269 RGH009 Right Atrial Isomerism 47
1270 ESN020 Eosinophilic Granulomatosis with Polyangiitis 47
1271 HYP550 Hypomagnesemia 1, Intestinal 35
1272 IMM073 Immunoglobulin a Vasculitis 32
1273 HYP249 Hyperthyroidism, Nonautoimmune 29
1274 RHB001 Rhabdoid Cancer 62
1275 VSC044 Visceral Myopathy 55
1276 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 55
1277 P MGL001 Megaloblastic Anemia 51
1278 c MGL018 Megaloblastic Anemia 1 42



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