Nephrological Diseases Category (1255 diseases)


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

# Family MCID Name MIFTS
1 P MPL001 Maple Syrup Urine Disease 66
2 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57
3 P BLD134 Bladder Cancer 78
4 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 57
5 c HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40
6 PPL048 Papillorenal Syndrome 53
7 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 51
8 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 28
9 DNB001 Danubian Endemic Familial Nephropathy 44
10 PRL032 Perlman Syndrome 44
11 P HYP761 Hypouricemia, Renal, 1 40
12 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 30
13 c HYP534 Hypomagnesemia 3, Renal 37
14 CNG116 Congenital Nephrotic Syndrome Finnish Type 15
15 IGG001 Iga Glomerulonephritis 52
16 HMT008 Hematuria, Benign Familial 40
17 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 12
18 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 29
19 FML076 Familial Juvenile Hyperuricaemic Nephropathy 25
20 SML031 Small Cell Carcinoma of the Bladder 34
21 c WLM013 Wilms Tumor 1 69
22 P MMB011 Membranous Nephropathy 55
23 c NPH055 Nephrotic Syndrome, Type 1 46
24 P HRD009 Hereditary Wilms' Tumor 46
25 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
26 c WLM005 Wilms Tumor 2 19
27 c WLM017 Wilms Tumor 4 17
28 c WLM015 Wilms Tumor 3 16
29 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 15
30 c FML094 Familial Wilms Tumor 2 6
31 P MCK013 Meckel Syndrome, Type 1 62
32 P DNT020 Dent Disease 1 55
33 NRG002 Neurogenic Bladder 53
34 c MCK033 Meckel Syndrome, Type 4 26
35 c MCK032 Meckel Syndrome, Type 3 24
36 c MCK030 Meckel Syndrome, Type 7 24
37 c MCK031 Meckel Syndrome, Type 2 23
38 c MCK034 Meckel Syndrome, Type 8 23
39 c MCK026 Meckel Syndrome 12 21
40 c MCK014 Meckel Syndrome, Type 5 21
41 c MCK012 Meckel Syndrome, Type 6 21
42 c MCK035 Meckel Syndrome, Type 10 20
43 c MCK036 Meckel Syndrome, Type 9 20
44 c MCK028 Meckel Syndrome 13 20
45 c MCK020 Meckel Syndrome, Type 11 19
46 P HYP210 Hypomagnesemia 2, Renal 33
47 P KDN018 Kidney Disease 69
48 RNL024 Renal Glucosuria 50
49 c MCR113 Microvascular Complications of Diabetes 3 55
50 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 51
51 RNL051 Renal Cysts and Diabetes Syndrome 45
52 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 41
53 BLD044 Bladder Disease 55
54 P URF003 Urofacial Syndrome 1 42
55 c URF002 Urofacial Syndrome 2 18
56 URN009 Urinary System Disease 58
57 EXS017 Exstrophy of Bladder 45
58 P RNL100 Renal Hypodysplasia/aplasia 1 57
59 LPD004 Lipoid Nephrosis 46
60 P AML002 Amelogenesis Imperfecta 46
61 P GLL032 Galloway-Mowat Syndrome 45
62 c AML020 Amelogenesis Imperfecta, Type Iv 37
63 c GLL038 Galloway-Mowat Syndrome 1 37
64 c AML044 Amelogenesis Imperfecta, Type Ig 37
65 c AML017 Amelogenesis Imperfecta, Type Ib 36
66 c AML061 Amelogenesis Imperfecta, Type Ie 36
67 c AML057 Amelogenesis Imperfecta, Type Iiia 32
68 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 27
69 c BKV001 Bk-Virus Nephropathy 26
70 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 24
71 c AML047 Amelogenesis Imperfecta, Type Ia 21
72 c AML048 Amelogenesis Imperfecta, Type Ih 20
73 c AML050 Amelogenesis Imperfecta, Type if 20
74 c AML018 Amelogenesis Imperfecta, Type Ic 19
75 c GLL040 Galloway-Mowat Syndrome 3 18
76 c GLL041 Galloway-Mowat Syndrome 4 18
77 c GLL042 Galloway-Mowat Syndrome 5 17
78 c AML056 Amelogenesis Imperfecta, Type Iiib 14
79 c AML063 Amelogenesis Imperfecta Type 2a1 12
80 NPH091 Nephrolithiasis, Calcium Oxalate 51
81 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 32
82 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 31
83 BLD131 Bladder Urothelial Carcinoma 55
84 P SNR003 Senior-Loken Syndrome 1 54
85 c SNR016 Senior-Loken Syndrome 9 21
86 c SNR011 Senior-Loken Syndrome 3 20
87 c SNR015 Senior-Loken Syndrome 8 20
88 c SNR004 Senior-Loken Syndrome 4 19
89 c SNR005 Senior-Loken Syndrome 5 18
90 c SNR006 Senior-Loken Syndrome 6 17
91 c SNR007 Senior-Loken Syndrome 7 16
92 CYS036 Cystinosis, Nephropathic 47
93 c NPH068 Nephronophthisis 16 42
94 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 35
95 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
96 P NPH005 Nephronophthisis 57
97 c FML015 Familial Nephrotic Syndrome 34
98 RNL039 Renal Dysplasia-Limb Defects Syndrome 27
99 P RNL028 Renal Tubular Dysgenesis 49
100 c NPH049 Nephrotic Syndrome, Type 2 40
101 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
102 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 19
103 BLD049 Bladder Transitional Cell Papilloma 33
104 c RNL113 Renal Failure, Progressive, with Hypertension 29
105 c FCL082 Focal Segmental Glomerulosclerosis 4 22
106 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
107 c FCL043 Focal Segmental Glomerulosclerosis 6 21
108 c FCL027 Focal Segmental Glomerulosclerosis 3 20
109 c FCL085 Focal Segmental Glomerulosclerosis 7 20
110 c FCL028 Focal Segmental Glomerulosclerosis 5 19
111 c FCL053 Focal Segmental Glomerulosclerosis 8 19
112 c FCL026 Focal Segmental Glomerulosclerosis 2 18
113 c FCL055 Focal Segmental Glomerulosclerosis 9 18
114 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 16
115 MLT033 Multicentric Osteolysis Nephropathy 9
116 BLD029 Bladder Dome Cancer 8
117 MTC065 Mitochondrial Dna Depletion Syndrome 8a 25
118 c CHR089 Chronic Kidney Failure 72
119 c NPH019 Nephronophthisis 1 42
120 SPR001 Superficial Urinary Bladder Cancer 29
121 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
122 HMR004 Hemorrhagic Fever with Renal Syndrome 63
123 P RNL007 Renal Tubular Acidosis 51
124 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
125 RNL018 Renal Pelvis Carcinoma 34
126 LWC001 Low Compliance Bladder 30
127 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 23
128 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 20
129 NPH002 Nephrogenic Adenoma of Urinary Bladder 20
130 BLD026 Bladder Trigone Cancer 8
131 PRS055 Pierson Syndrome 43
132 NPH078 Nephrolithiasis, Uric Acid 27
133 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 24
134 P HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 23
135 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23
136 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 10
137 P CYS018 Cystitis 57
138 c ACT068 Acute Cystitis 50
139 BLD047 Bladder Squamous Cell Carcinoma 43
140 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37
141 c NPH054 Nephrotic Syndrome, Type 3 29
142 c NPH072 Nephrotic Syndrome, Type 7 28
143 c CHR087 Chronic Cystitis 26
144 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
145 RRM005 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 11
146 P RNL017 Renal Oncocytoma 49
147 c NPH030 Nephronophthisis 2 41
148 c BLD008 Bladder Carcinoma in Situ 33
149 JBR007 Joubert Syndrome with Renal Anomalies 30
150 URN022 Urinary Tract Infections, Recurrent 29
151 P RNL115 Renal Tubular Acidosis, Proximal 24
152 c HYP302 Hypomagnesemia 4, Renal 18
153 BRC111 Brachymesomelia-Renal Syndrome 16
154 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 11
155 JWT001 Jewett-Marshall Bladder Cancer 7
156 URN005 Urinary Bladder Villous Adenoma 7
157 P NPH012 Nephrotic Syndrome 60
158 URN003 Urinary Schistosomiasis 50
159 NPH003 Nephrocalcinosis 49
160 c CNG029 Congenital Mesoblastic Nephroma 43
161 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 35
162 c MCR112 Microvascular Complications of Diabetes 2 30
163 c HYP376 Hypouricemia, Renal, 2 19
164 BLD025 Bladder Sarcoma 19
165 c ACT071 Acute Kidney Failure 54
166 BLD009 Bladder Neck Obstruction 40
167 P IGN003 Iga Nephropathy 1 34
168 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 19
169 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 19
170 THY044 Thymic-Renal-Anal-Lung Dysplasia 16
171 P RNL045 Renal Tubular Acidosis, Distal 42
172 c NPH032 Nephronophthisis 4 33
173 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 30
174 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 22
175 BLD046 Bladder Papillary Transitional Cell Neoplasm 20
176 c HYP445 Hypomagnesemia 6, Renal 19
177 CHR176 Chromophil Renal Cell Carcinoma 19
178 APM002 Aapoai Amyloidosis 15
179 RDR001 Radio Renal Syndrome 14
180 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 13
181 APM001 Aapoaii Amyloidosis 13
182 PLY043 Polyomavirus Allograft Nephropathy 11
183 BLD003 Bladder Lateral Wall Cancer 9
184 URN004 Urinary Bladder Inverted Papilloma 9
185 BLD027 Bladder Neck Cancer 7
186 SPL022 Split Hand Urinary Anomalies Spina Bifida 7
187 P URN007 Urinary Bladder Anterior Wall Cancer 6
188 c URN006 Urinary Bladder Posterior Wall Cancer 6
189 HST012 Histidinuria Renal Tubular Defect 6
190 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
191 PRN038 Prune Belly Syndrome 55
192 CYS039 Cystic Kidney Disease 49
193 c MCR130 Microvascular Complications of Diabetes 6 42
194 c BRN131 Branchiootorenal Syndrome 1 41
195 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 40
196 c MCR120 Microvascular Complications of Diabetes 7 34
197 c MCR133 Microvascular Complications of Diabetes 4 32
198 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 21
199 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 18
200 BLD030 Bladder Tuberculosis 17
201 OLG008 Oligomeganephronic Renal Hypoplasia 15
202 c BRN046 Branchiootorenal Spectrum Disorders 8
203 ACR045 Acro-Pectoro-Renal Field Defect 7
204 NPH009 Nephrolithiasis 57
205 P RNL015 Renal Hypertension 46
206 NPH010 Nephrosclerosis 46
207 RNL094 Renal Dysplasia, Cystic 29
208 c NPH047 Nephrotic Syndrome, Type 4 25
209 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 23
210 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 23
211 c NPH074 Nephrotic Syndrome, Type 9 20
212 c NPH096 Nephrotic Syndrome, Type 12 19
213 c NPH095 Nephrotic Syndrome, Type 11 19
214 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
215 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
216 HRD044 Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 7
217 c FCL025 Focal Segmental Glomerulosclerosis 1 59
218 P FNC004 Fanconi Syndrome 54
219 RNL097 Renal Artery Disease 38
220 INV004 Invasive Bladder Transitional Cell Carcinoma 37
221 FML029 Familial Renal Papillary Carcinoma 36
222 RNL012 Renal Tuberculosis 35
223 ACT003 Acute Kidney Tubular Necrosis 34
224 c FNC059 Fanconi-Like Syndrome 34
225 c NPH031 Nephronophthisis 3 32
226 BLD045 Bladder Diverticulum 32
227 NPH001 Nephrogenic Adenoma 31
228 RNL008 Renal Artery Atheroma 30
229 BLD041 Bladder Calculus 30
230 BLD028 Bladder Lymphoma 28
231 c PRM200 Primary Fanconi Syndrome 27
232 RNL021 Renal Tubular Transport Disease 27
233 HNM002 Hinman Syndrome 25
234 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 24
235 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
236 ACT043 Acute Urate Nephropathy 20
237 c NPH070 Nephrotic Syndrome, Type 6 20
238 BLD065 Blue Diaper Syndrome 20
239 RNL019 Renal Pelvis Transitional Cell Carcinoma 18
240 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
241 RDL030 Radial-Renal Syndrome 17
242 BLD023 Bladder Leiomyoma 16
243 OCL029 Oculo Skeletal Renal Syndrome 15
244 INB002 Inborn Renal Aminoaciduria 13
245 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
246 AFB003 Afib Amyloidosis 11
247 P BNG003 Benign Hypertensive Renal Disease 10
248 DNT019 Daentl Towsend Siegel Syndrome 9
249 c MLG055 Malignant Cystic Nephroma 9
250 BLD022 Bladder Flat Intraepithelial Lesion 5
251 P NTR004 Neutropenia 60
252 c SVR003 Severe Congenital Neutropenia 58
253 DPH019 Diaphanospondylodysostosis 39
254 P CYS007 Cystic Nephroma 37
255 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
256 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 32
257 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 32
258 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 32
259 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
260 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
261 KDN006 Kidney Papillary Necrosis 27
262 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 26
263 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
264 P C1Q005 C1q Nephropathy 23
265 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
266 c NPH073 Nephrotic Syndrome, Type 8 21
267 c NPH075 Nephronophthisis 18 21
268 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
269 NPH037 Nephronophthisis-Like Nephropathy 1 20
270 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
271 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
272 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
273 c NPH086 Nephronophthisis 20 19
274 CRM007 Crome Syndrome 19
275 c NPH035 Nephronophthisis 9 18
276 c NTR045 Neutropenia, Chronic Familial 18
277 c IGN004 Iga Nephropathy 3 17
278 c NPH076 Nephrotic Syndrome, Type 10 17
279 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
280 c NPH093 Nephrotic Syndrome, Type 13 16
281 URN010 Urinary Tract Obstruction 57
282 P FNC026 Fanconi Renotubular Syndrome 1 32
283 STN006 Steinfeld Syndrome 26
284 BRN134 Brain Malformations with or Without Urinary Tract Defects 24
285 LWR004 Lower Urinary Tract Calculus 22
286 c BRN086 Branchiootorenal Syndrome 2 18
287 c FNC034 Fanconi Renotubular Syndrome 2 18
288 c NPH094 Nephrotic Syndrome 14 17
289 c FNC049 Fanconi Renotubular Syndrome 3 17
290 c NPH092 Nephrotic Syndrome 15 16
291 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 16
292 BTM003 Beta-Aminoisobutyric Aciduria 14
293 P GLL020 Gallbladder Disease 64
294 END030 End Stage Renal Failure 59
295 RNL078 Renal Dysplasia 49
296 SCN001 Secondary Hyperparathyroidism of Renal Origin 40
297 c GLL024 Gallbladder Disease 1 39
298 RNL105 Renal Agenesis, Unilateral 35
299 HYP114 Hypertensive Nephropathy 35
300 HYP348 Hyperglycinuria 34
301 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 27
302 RNL013 Renal Adenoma 27
303 c HRD020 Hereditary Renal Cell Carcinoma 25
304 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 25
305 c NPH053 Nephronophthisis 11 23
306 SNR010 Senior-Løken Syndrome 23
307 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
308 c NPH065 Nephronophthisis 13 22
309 c NPH077 Nephronophthisis 19 20
310 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
311 BLT020 Bilateral Multicystic Dysplastic Kidney 20
312 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 20
313 c NPH069 Nephronophthisis 15 19
314 c NPH067 Nephronophthisis 12 19
315 c NPH033 Nephronophthisis 7 18
316 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 18
317 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
318 c RNL099 Renal Hypodysplasia/aplasia 2 18
319 c IGN002 Iga Nephropathy 2 17
320 c RNL117 Renal Tubular Acidosis Iii 15
321 NPH008 Nephrogenic Adenoma of the Urethra 15
322 HST019 Histidinuria Due to a Renal Tubular Defect 14
323 ERY007 Erythropoietin Polycythemia 14
324 SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 14
325 BLR029 Biliary Malformation with Renal Tubular Insufficiency 13
326 c GLL027 Gallbladder Disease 4 12
327 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
328 RNL036 Renal Dysplasia Diffuse Cystic 10
329 c CNG407 Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization 10
330 URT023 Ureteric Orifice Cancer 10
331 c GLL026 Gallbladder Disease 3 9
332 c GLL025 Gallbladder Disease 2 9
333 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
334 MLT112 Multiloculated Renal Cyst 9
335 NNN004 Non-Invasive Bladder Urothelial Carcinoma 8
336 RNR002 Ren-Related Kidney Disease 8
337 URN021 Urinary Bladder, Atony of 8
338 BTM002 Beta-Amino Acids, Renal Transport of 7
339 LNG042 Langer Nishino Yamaguchi Syndrome 7
340 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
341 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 6
342 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 6
343 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
344 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 6
345 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 6
346 BLD011 Bladder Verrucous Squamous Cell Carcinoma 6
347 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
348 JJN005 Jejunal Atresia with Renal Adysplasia 6
349 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
350 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 6
351 BLD012 Bladder Urothelial Papillary Carcinoma 5
352 c BLT012 Bilateral Renal Agenesis Dominant Type 5
353 NNR001 Non-Renal Secondary Hyperparathyroidism 5
354 NNT002 Neonatal Urinary Tract Infectious Disease 5
355 STN004 Stone in Bladder Diverticulum 5
356 DBL008 Double Uterus-Hemivagina-Renal Agenesis 4
357 ISC007 Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency 3
358 P MCR115 Microvascular Complications of Diabetes 5 66
359 P CTR002 Cataract 60
360 URM002 Uremia 52
361 ANR004 Anuria 49
362 c CTR130 Cataract 9, Multiple Types 41
363 c CTR118 Cataract 14, Multiple Types 39
364 c CTR115 Cataract 16, Multiple Types 38
365 c CTR122 Cataract 5, Multiple Types 38
366 c CTR129 Cataract 31, Multiple Types 36
367 c CTR170 Cataract 30, Multiple Types 36
368 c CTR098 Cataract 1, Multiple Types 35
369 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
370 c CTR141 Cataract 21, Multiple Types 34
371 STR094 Stromme Syndrome 34
372 c CTR125 Cataract 7 33
373 c CTR174 Cataract 40 33
374 c CTR102 Cataract 2, Multiple Types 32
375 c CTR096 Cataract 6, Multiple Types 32
376 c CTR119 Cataract 32, Multiple Types 32
377 c CTR095 Cataract 8, Multiple Types 31
378 c CTR158 Cataract 37 31
379 c CTR103 Cataract 4, Multiple Types 31
380 c CTR145 Cataract 44 31
381 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
382 c CTR132 Cataract 3, Multiple Types 29
383 c CTR121 Cataract 25 28
384 c CTR175 Cataract 24 28
385 c CTR124 Cataract 10, Multiple Types 28
386 c CTR113 Cataract 11, Multiple Types 27
387 c DNT021 Dent Disease 2 26
388 c CTR169 Cataract 29 25
389 c CTR166 Cataract 33, Multiple Types 23
390 c CTR131 Cataract 17, Multiple Types 23
391 c CTR181 Cataract 18 22
392 WBB001 Webb-Dattani Syndrome 22
393 c CTR180 Cataract 22, Multiple Types 22
394 c CTR162 Cataract 47 22
395 c CTR184 Cataract 39, Multiple Types 21
396 c NPH071 Nephronophthisis 14 21
397 c CTR165 Cataract 19, Multiple Types 21
398 c CTR159 Cataract 35 21
399 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
400 c CTR182 Cataract 23, Multiple Types 20
401 c CTR116 Cataract 15, Multiple Types 20
402 c CTR183 Cataract 38 20
403 c CTR025 Cataract, Total Congenital 20
404 c CTR105 Cataract 12, Multiple Types 20
405 c CTR136 Cataract 41 20
406 c CTR163 Cataract 46, Juvenile-Onset 20
407 c CTR185 Cataract 30 20
408 c CTR111 Cataract 36 20
409 c CTR178 Cataract 27 18
410 c CTR097 Cataract 34, Multiple Types 18
411 c CTR157 Cataract 28 18
412 c CTR139 Cataract 42 18
413 c CTR110 Cataract 26, Multiple Types 18
414 c CTR106 Cataract 20, Multiple Types 18
415 c CTR160 Cataract 45 18
416 c CTR144 Cataract 43 17
417 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 17
418 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 16
419 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 16
420 c CTR128 Cataract 33 14
421 MPL011 Maple Syrup Urine Disease, Mild Variant 12
422 c RNL122 Renal Hypodysplasia/aplasia 3 10
423 ACT006 Acute Gonococcal Cystitis 7
424 c CTR008 Cataract Congenital Autosomal Dominant 7
425 P TBR001 Tuberous Sclerosis 69
426 c TBR026 Tuberous Sclerosis 2 65
427 c TBR025 Tuberous Sclerosis 1 63
428 INT067 Interstitial Nephritis 51
429 c WLM018 Wilms Tumor 5 49
430 c WLM011 Wilms Tumor 6 44
431 KRN001 Korean Hemorrhagic Fever 42
432 PYR004 Pyuria 34
433 KDN001 Kidney Cortex Necrosis 27
434 c JBR012 Joubert Syndrome 5 25
435 c JBR031 Joubert Syndrome 21 24
436 c JBR041 Joubert Syndrome 3 24
437 c JBR024 Joubert Syndrome 14 23
438 c JBR011 Joubert Syndrome 7 23
439 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
440 c JBR035 Joubert Syndrome 24 22
441 c JBR025 Joubert Syndrome 17 22
442 c JBR042 Joubert Syndrome 23 22
443 c JBR018 Joubert Syndrome 4 22
444 c JBR037 Joubert Syndrome 26 22
445 c JBR015 Joubert Syndrome 6 21
446 c JBR030 Joubert Syndrome 22 21
447 c JBR026 Joubert Syndrome 15 21
448 c JBR016 Joubert Syndrome 10 20
449 c JBR027 Joubert Syndrome 16 20
450 c JBR021 Joubert Syndrome 18 20
451 c JBR036 Joubert Syndrome 25 20
452 c JBR013 Joubert Syndrome 8 20
453 c JBR039 Joubert Syndrome 28 19
454 c JBR014 Joubert Syndrome 9 19
455 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 19
456 c JBR040 Joubert Syndrome 30 19
457 c JBR038 Joubert Syndrome 27 18
458 c JBR022 Joubert Syndrome 20 18
459 c JBR028 Joubert Syndrome 13 17
460 c JBR045 Joubert Syndrome 33 17
461 STR095 Structural Heart Defects and Renal Anomalies Syndrome 16
462 CFH006 Cfhr5 Deficiency 16
463 c JBR043 Joubert Syndrome 32 16
464 BLT024 Bilateral Renal Aplasia 14
465 c JBR044 Joubert Syndrome 31 13
466 RNL077 Renal Fibrosis 49
467 KDN015 Kidney Angiomyolipoma 41
468 FML031 Female Stress Incontinence 40
469 RNL025 Renal Hypoplasia 37
470 MLT084 Multicystic Dysplastic Kidney 36
471 CLL007 Cellular Congenital Mesoblastic Nephroma 31
472 c KDN016 Kidney Benign Neoplasm 31
473 RNL001 Renal Artery Obstruction 31
474 NPH006 Nephrogenic Adenofibroma 30
475 CLR112 Clear Cell Papillary Renal Cell Carcinoma 27
476 P ADL014 Adult Mesoblastic Nephroma 25
477 P RNL123 Renal Agenesis, Bilateral 25
478 IMP003 Impaired Renal Function Disease 25
479 BRN121 Branchiootorenal/branchiootic Syndrome 25
480 EPT005 Epithelial Predominant Wilms' Tumor 24
481 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 24
482 c INT262 Intermediate Maple Syrup Urine Disease 23
483 HYP683 Hypogonadism-Cataract Syndrome 22
484 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 21
485 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 21
486 FRS010 Forsythe-Wakeling Syndrome 20
487 c BLD040 Bladder Benign Neoplasm 19
488 TFR002 Tafro Syndrome 18
489 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
490 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 18
491 KDN004 Kidney Hemangiopericytoma 17
492 c FML028 Familial Renal Oncocytoma 17
493 UNL014 Unilateral Multicystic Dysplastic Kidney 17
494 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 17
495 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 17
496 MTH075 Methionine Malabsorption Syndrome 16
497 NPH097 Nephrosialidosis 16
498 NLP003 Nail-Patella-Like Renal Disease 16
499 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 16
500 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
501 RNL109 Renal Hypoplasia, Bilateral 15
502 c LTN020 Late-Onset Nephronophthisis 14
503 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 14
504 SNR014 Senior-Boichis Syndrome 13
505 RNL116 Renal and Mullerian Duct Hypoplasia 13
506 TBL026 Tubulocystic Renal Cell Carcinoma 13
507 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 13
508 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 13
509 PX2001 Pax2-Related Disorder 13
510 BLS005 Blastema Predominant Kidney Wilms' Tumor 12
511 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
512 STR009 Stromal Predominant Kidney Wilms' Tumor 12
513 MXD009 Mixed Cell Type Kidney Wilms' Tumor 12
514 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12
515 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
516 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 11
517 c RNL016 Renal Infectious Disease 11
518 c NPH101 Nephrotic Syndrome 16 11
519 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 10
520 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 9
521 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
522 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 9
523 LTB003 Ltbp4-Related Cutis Laxa 9
524 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 9
525 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 8
526 NPH050 Nephropathy, Progressive, with Deafness 8
527 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
528 RNL010 Renal Pelvis Inverted Papilloma 7
529 c KDN012 Kidney Carcinoma in Situ 7
530 CNG337 Congenital Renal Artery Stenosis 7
531 RNL107 Renal Dysplasia, Bilateral 7
532 RNL106 Renal Dysplasia, Unilateral 7
533 RNL108 Renal Hypoplasia, Unilateral 6
534 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
535 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
536 KLL010 Kallikrein, Decreased Urinary Activity of 6
537 c MLG004 Malignant Hypertensive Renal Disease 6
538 CHL044 Childhood Kidney Angiomyolipoma 6
539 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 6
540 CLS004 Classic Congenital Mesoblastic Nephroma 6
541 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 6
542 HRD003 Hereditary Conventional Renal Cell Carcinoma 5
543 BLD050 Bladder Urachal Carcinoma 5
544 BLD004 Bladder Urachal Urothelial Carcinoma 5
545 TLL007 Tall Stature-Intellectual Disability-Renal Anomalies Syndrome 5
546 DRG019 Drug-Related Renal Tubular Dysgenesis 5
547 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
548 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
549 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 5
550 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 5
551 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 5
552 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
553 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
554 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 4
555 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
556 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
557 c RNL049 Renal Tubular Acidosis, Distal, Type 4 4
558 RNL020 Renal Pelvis Urothelial Papilloma 4
559 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
560 BLD024 Bladder Squamous Papilloma 4
561 GLY095 Glycoprotein, Renal 3
562 PLM171 Pulmonic Stenosis and Congenital Nephrosis 3
563 NPH099 Nephropathy, Chronic Tubulointerstitial 3
564 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
565 GLL001 Gall Bladder Carcinoma in Situ 3
566 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
567 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 3
568 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 2
569 RNL031 Renal Agenesis Meningomyelocele Mullerian Defect 2
570 RNL030 Renal Adysplasia Dominant Type 2
571 P AMY004 Amyloidosis 69
572 P CNJ013 Conjunctivitis 67
573 P PLY014 Polycystic Kidney Disease 60
574 P PYL005 Pyelonephritis 56
575 P CNG411 Congenital Disorder of Glycosylation, Type in 55
576 P SMP003 Simpson-Golabi-Behmel Syndrome 54
577 P DBT005 Diabetes Insipidus 54
578 c PLY145 Polycystic Kidney Disease 1 54
579 P PRM002 Primary Hyperoxaluria 53
580 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
581 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51
582 HYD002 Hydronephrosis 49
583 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
584 c PLY060 Polycystic Kidney Disease 2 49
585 c ACT042 Acute Pyelonephritis 48
586 P RPD001 Rapidly Progressive Glomerulonephritis 48
587 c HRD039 Hereditary Amyloidosis 47
588 P PSD003 Pseudohypoaldosteronism 47
589 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
590 HYP347 Hypotonia-Cystinuria Syndrome 47
591 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
592 IDP073 Idiopathic Hypercalciuria 46
593 P PRL003 Proliferative Glomerulonephritis 45
594 URT001 Urethritis 44
595 c CHR086 Chronic Conjunctivitis 44
596 CRS001 Crescentic Glomerulonephritis 44
597 LPP002 Lipoprotein Glomerulopathy 44
598 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
599 c PLY141 Polycystic Kidney Disease 5 42
600 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
601 c HYP794 Hyperoxaluria, Primary, Type I 41
602 PRP056 Porphyria, Acute Hepatic 41
603 URT004 Urethral Syndrome 41
604 PDT035 Pediatric Systemic Lupus Erythematosus 41
605 EPS026 Epispadias 41
606 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40
607 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
608 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
609 P XNT004 Xanthinuria 39
610 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
611 URT014 Ureterolithiasis 38
612 PYL004 Pyelitis 38
613 c PLY139 Polycystic Kidney Disease 3 38
614 c CHR098 Chronic Pyelonephritis 38
615 ACT040 Acute Poststreptococcal Glomerulonephritis 37
616 c BCT006 Bacterial Conjunctivitis 37
617 VTR016 Vater/vacterl Association 37
618 c HYP602 Hyperoxaluria, Primary, Type Ii 37
619 c PSD092 Pseudohypoaldosteronism, Type Iie 37
620 P HRD086 Hereditary Hypophosphatemic Rickets 36
621 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
622 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 36
623 c TYP024 Type Ii Mixed Cryoglobulinemia 36
624 URT037 Urethral Stricture 35
625 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
626 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
627 P ANT061 Antenatal Bartter Syndrome 35
628 c CNG379 Congenital Disorder of Glycosylation, Type It 34
629 PRN007 Perinephritis 34
630 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
631 KLL014 Kelley-Seegmiller Syndrome 33
632 RDT001 Radiation Cystitis 32
633 c ACT067 Acute Conjunctivitis 32
634 XNT001 Xanthogranulomatous Pyelonephritis 32
635 DFF015 Diffuse Glomerulonephritis 32
636 c ACT079 Acute Proliferative Glomerulonephritis 32
637 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
638 c PSD090 Pseudohypoaldosteronism, Type Iia 32
639 URT016 Urethral Diverticulum 31
640 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
641 c PRP091 Porphyria Cutanea Tarda, Type I 31
642 OSC001 Oeis Complex 31
643 c HYP603 Hyperoxaluria, Primary, Type Iii 30
644 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
645 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
646 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
647 URT011 Urethral Calculus 30
648 c HRD142 Hereditary Xanthinuria 30
649 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
650 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
651 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
652 TRG001 Trigonitis 29
653 c CNG188 Congenital Disorder of Glycosylation, Type if 29
654 c BRT052 Bartter Syndrome, Type 1, Antenatal 29
655 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
656 ORT001 Orthostatic Proteinuria 29
657 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
658 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
659 c MDL008 Medullary Cystic Kidney Disease 1 28
660 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
661 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
662 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
663 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
664 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
665 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
666 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
667 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
668 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
669 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
670 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
671 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
672 c RBN008 Rubinstein-Taybi Syndrome 2 25
673 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
674 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
675 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
676 KDN013 Kidney Hypertrophy 25
677 c PSD093 Pseudohypoaldosteronism, Type Iid 24
678 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
679 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
680 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
681 HVY003 Heavy Chain Deposition Disease 23
682 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
683 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
684 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
685 P ACR072 Acrorenal Syndrome 23
686 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
687 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
688 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
689 P MDL021 Medullary Cystic Kidney Disease 2 22
690 c FML324 Familial Porphyria Cutanea Tarda 22
691 c HML035 Hemolytic Uremic Syndrome, Atypical 2 22
692 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
693 MSC089 Mosaic Monosomy X 22
694 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
695 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 21
696 THY105 Thyrocerebroretinal Syndrome 20
697 EXD002 Exudative Glomerulonephritis 19
698 c PRM150 Primary Localized Amyloidosis 19
699 c SBC010 Subacute Glomerulonephritis 19
700 c PSD068 Pseudohypoaldosteronism, Type Iic 19
701 c HRD156 Hereditary Central Diabetes Insipidus 18
702 c PSD094 Pseudohypoaldosteronism, Type Iib 18
703 c SYS066 Systemic Polyarteritis Nodosa 18
704 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
705 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
706 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 16
707 c TRN053 Transient Pseudohypoaldosteronism 16
708 c ACQ034 Acquired Central Diabetes Insipidus 16
709 CNG330 Congenital Megacalycosis 16
710 IGG011 Igg4-Related Kidney Disease 15
711 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 15
712 c PSD047 Pseudo-Turner Syndrome 15
713 ACR109 Acropectororenal Dysplasia 14
714 P CNG326 Congenital Primary Megaureter 14
715 GNR029 Generalized Galactose Epimerase Deficiency 14
716 LGH014 Light and Heavy Chain Deposition Disease 14
717 PTN009 Patent Urachus 14
718 c AHM002 Ah Amyloidosis 13
719 ATR053 Atresia of Urethra 13
720 c MXD037 Mixed Cryoglobulinemia Type Iii 13
721 APV001 Aapoaiv Amyloidosis 12
722 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
723 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 12
724 P ANT062 Anterior Urethral Valve 12
725 CLL035 Collagen Type Iii Glomerulopathy 12
726 ACT041 Acute Diffuse Nephritis 11
727 URC013 Urachal Diverticulum 11
728 PYL001 Pyeloureteritis Cystica 11
729 URC012 Urachal Sinus 11
730 c PRM222 Primary Polyarteritis Nodosa 11
731 ERY041 Erythrocyte Galactose Epimerase Deficiency 11
732 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 8
733 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
734 MGC005 Megacystis-Megaureter Syndrome 8
735 c SCN055 Secondary Polyarteritis Nodosa 8
736 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
737 P JVN036 Juvenile Sialidosis Type 2 8
738 c CNG348 Congenital Sialidosis Type 2 8
739 SNG013 Single-Organ Polyarteritis Nodosa 7
740 c ACR048 Acrorenal Syndrome Recessive 7
741 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
742 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
743 P RBN007 Rubinstein Taybi Like Syndrome 6
744 NNC001 Non-Congenital Cyst of Kidney 5
745 UNL009 Unilateral Congenital Megacalycosis 5
746 CNG331 Congenital Bilateral Megacalycosis 5
747 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
748 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
749 ANT002 Anti-Basement Membrane Glomerulonephritis 5
750 STR004 Stricture or Kinking of Ureter 4
751 c PRM147 Primary Megaureter, Adult-Onset Form 4
752 BNG089 Benign Metanephric Tumour 4
753 CNG270 Congenital Primary Megaureter, Obstructed Form 4
754 CNG269 Congenital Primary Megaureter, Refluxing Form 4
755 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
756 FCL004 Focal Embolic Glomerulonephritis 3
757 RNL065 Renal Cell Carcinoma, Papillary, 1 56
758 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 22
759 RNL114 Renal Cell Carcinoma, Nonpapillary 68
760 CHR177 Chromophobe Renal Cell Carcinoma 59
761 P RNL003 Renal Clear Cell Carcinoma 58
762 CLR030 Clear Cell Renal Cell Carcinoma 55
763 RNL119 Renal Cell Carcinoma, Xp11-Associated 30
764 P KDN017 Kidney Cancer 66
765 P INT143 Interstitial Cystitis 63
766 c CHR020 Chronic Interstitial Cystitis 44
767 BLD039 Bladder Adenocarcinoma 34
768 BLD064 Bladder Cancer, Childhood 7
769 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 50
770 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 18
771 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42
772 c ALM001 Al Amyloidosis 56
773 RNL011 Renal Osteodystrophy 49
774 c AMY009 Amyloidosis Aa 48
775 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
776 DNY001 Denys-Drash Syndrome 54
777 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 24
778 RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 12
779 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 11
780 BLD031 Bladder Signet Ring Cell Adenocarcinoma 11
781 LWC002 Lowe Oculocerebrorenal Syndrome 62
782 P BRN006 Branchiootorenal Syndrome 44
783 P CTS001 Cutis Laxa 62
784 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
785 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 45
786 GNT031 Genitopatellar Syndrome 43
787 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
788 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
789 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
790 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
791 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
792 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
793 c ACQ027 Acquired Cutis Laxa 29
794 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
795 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
796 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
797 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
798 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
799 CYS045 Cystinosis, Adult Nonnephropathic 23
800 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
801 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 19
802 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
803 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
804 FNC009 Fanconi-Bickel Syndrome 53
805 RNL089 Renal Nutcracker Syndrome 20
806 RNL112 Renal, Genital, and Middle Ear Anomalies 17
807 ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 13
808 BLD043 Bladder Clear Cell Adenocarcinoma 9
809 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 7
810 P JBR020 Joubert Syndrome 1 68
811 c MCR129 Microvascular Complications of Diabetes 1 62
812 P FCL005 Focal Segmental Glomerulosclerosis 60
813 NPH018 Nephrogenic Systemic Fibrosis 56
814 P ALP074 Alport Syndrome, Autosomal Dominant 47
815 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
816 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
817 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
818 CRN239 Carnitine Deficiency, Systemic Primary 52
819 RHY001 Rhyns Syndrome 44
820 KDN007 Kidney Clear Cell Sarcoma 39
821 ACR102 Acrorenal-Mandibular Syndrome 28
822 ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 20
823 RNL004 Renal Pelvis Adenocarcinoma 17
824 DNM003 Daneman Davy Mancer Syndrome 11
825 STK001 Saito Kuba Tsuruta Syndrome 10
826 GTL001 Gitelman Syndrome 62
827 TRN018 Transitional Cell Carcinoma 58
828 CYS010 Cystinosis 55
829 MDL009 Medullary Sponge Kidney 46
830 SRC002 Sarcomatoid Renal Cell Carcinoma 42
831 DCR008 Dicarboxylic Aminoaciduria 38
832 CHL010 Childhood Kidney Cell Carcinoma 37
833 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 32
834 RNL009 Renal Pelvis Squamous Cell Carcinoma 14
835 RNL032 Renal Caliceal Diverticuli Deafness 12
836 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 8
837 BLD014 Bladder Colonic Type Adenocarcinoma 7
838 KDN008 Kidney Pelvis Papillary Carcinoma 7
839 GRN023 Green Sandford Davison Syndrome 7
840 BLD010 Bladder Colloid Adenocarcinoma 6
841 NPH025 Nephrotic Syndrome Ocular Anomalies 5
842 HST006 Histidinemia 46
843 c TWN011 Townes-Brocks Syndrome 1 31
844 c JBR004 Joubert Syndrome 2 28
845 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 24
846 c TWN010 Townes-Brocks Syndrome 2 22
847 SLC010 Salcedo Syndrome 7
848 c PRX045 Peroxisome Biogenesis Disorder 1b 57
849 P BRT004 Bartter Disease 52
850 c PRX059 Peroxisome Biogenesis Disorder 1a 41
851 c BRT042 Bartter Syndrome, Type 3 41
852 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 37
853 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 32
854 c PRX060 Peroxisome Biogenesis Disorder 5a 29
855 c PRX063 Peroxisome Biogenesis Disorder 2a 29
856 c PRX054 Peroxisome Biogenesis Disorder 12a 26
857 ARD001 Aredyld 26
858 c PRX053 Peroxisome Biogenesis Disorder 14b 26
859 c PRX055 Peroxisome Biogenesis Disorder 11a 25
860 c PRX065 Peroxisome Biogenesis Disorder 3a 25
861 c PRX091 Peroxisome Biogenesis Disorder 8a 24
862 c PRX057 Peroxisome Biogenesis Disorder 4a 24
863 c PRX048 Peroxisome Biogenesis Disorder 10a 24
864 c PRX046 Peroxisome Biogenesis Disorder 7a 24
865 c PRX052 Peroxisome Biogenesis Disorder 13a 23
866 c PRX051 Peroxisome Biogenesis Disorder 6a 22
867 c PRX050 Peroxisome Biogenesis Disorder 9b 22
868 c PRX058 Peroxisome Biogenesis Disorder 4b 21
869 c PRX047 Peroxisome Biogenesis Disorder 5b 21
870 c PRX062 Peroxisome Biogenesis Disorder 8b 21
871 c PRX043 Peroxisome Biogenesis Disorder 6b 20
872 c PRX066 Peroxisome Biogenesis Disorder 3b 19
873 c PRX056 Peroxisome Biogenesis Disorder 11b 19
874 P PRX064 Peroxisome Biogenesis Disorder 2b 19
875 c BRT024 Bartter Syndrome Type 4 18
876 c PRX089 Peroxisome Biogenesis Disorder 10b 18
877 c PRX068 Peroxisome Biogenesis Disorder 7b 18
878 ELL004 Ellis Yale Winter Syndrome 8
879 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
880 c MLG074 Malignant Mesenchymoma 51
881 FRY002 Fryns Syndrome 43
882 P MSN006 Mesenchymoma 37
883 DFF021 Diffuse Mesangial Sclerosis 36
884 KDN019 Kidney Sarcoma 31
885 KDN002 Kidney Rhabdoid Cancer 25
886 c BNG012 Benign Mesenchymoma 24
887 HLZ001 Holzgreve Syndrome 22
888 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 21
889 VSC014 Vascular Hyalinosis 18
890 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
891 LBN003 Lubinsky Syndrome 16
892 ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 16
893 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 15
894 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 14
895 URT041 Urethral Obstruction Sequence 12
896 c ADL020 Adult Malignant Mesenchymoma 12
897 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 9
898 c RNL048 Renal Tubular Acidosis, Distal, Type 3 9
899 VCT003 Vacterl Hydrocephaly 8
900 BLD021 Bladder Urachal Adenocarcinoma 7
901 SLG001 Selig Benacerraf Greene Syndrome 7
902 KRN006 Karandikar Maria Kamble Syndrome 6
903 BLD018 Bladder Hepatoid Adenocarcinoma 6
904 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
905 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
906 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 5
907 BNR003 Ben Ari Shuper Mimouni Syndrome 5
908 FRS005 Fraser Jequier Chen Syndrome 5
909 ALS004 Alsing Syndrome 5
910 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
911 BLD017 Bladder Mixed Adenocarcinoma 4
912 LCH006 Lachiewicz Sibley Syndrome 4
913 GRL001 Gorlin Bushkell Jensen Syndrome 4
914 ALL011 Allain-Babin-Demarquez Syndrome 4
915 BLL008 Billet Bear Syndrome 3
916 NPH022 Nephropathy Familial with Hyperuricemia 3
917 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 3
918 c SYS001 Systemic Lupus Erythematosus 86
919 P FNC027 Fanconi Anemia, Complementation Group a 78
920 FBR012 Fabry Disease 72
921 P LPS004 Lupus Erythematosus 69
922 P NRF023 Neurofibromatosis, Type Ii 69
923 P TRN020 Turner Syndrome 69
924 BHC003 Behcet Syndrome 68
925 P PSD087 Pseudoxanthoma Elasticum 67
926 TKY002 Takayasu Arteritis 66
927 ADL030 Adult-Onset Still's Disease 65
928 GLC006 Galactosemia 64
929 CYS013 Cystinuria 64
930 WLL001 Williams-Beuren Syndrome 63
931 c NRF024 Neurofibromatosis, Type I 63
932 P BRD002 Bardet-Biedl Syndrome 61
933 ELL001 Ellis-Van Creveld Syndrome 61
934 P GLM007 Glomerulonephritis 61
935 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
936 NRM005 Neuromuscular Disease 60
937 PRP083 Porphyria, Acute Intermittent 60
938 MCR088 Microscopic Polyangiitis 58
939 P BCK002 Beckwith-Wiedemann Syndrome 58
940 PRT118 Protoporphyria, Erythropoietic 58
941 c BRD014 Bardet-Biedl Syndrome 2 58
942 P PLY041 Polymyositis 57
943 c BRD011 Bardet-Biedl Syndrome 10 56
944 c FNC042 Fanconi Anemia, Complementation Group D2 56
945 PRP082 Porphyria, Congenital Erythropoietic 56
946 c BRD010 Bardet-Biedl Syndrome 1 56
947 c FRC011 Fructose Intolerance, Hereditary 56
948 MTH078 Methylmalonic Aciduria, Cblb Type 56
949 ALS001 Alstrom Syndrome 55
950 RLP001 Relapsing Polychondritis 55
951 c BRD013 Bardet-Biedl Syndrome 12 55
952 c BRD012 Bardet-Biedl Syndrome 11 55
953 BRT002 Birt-Hogg-Dube Syndrome 54
954 PRP032 Porphyria Variegata 54
955 APP015 Apparent Mineralocorticoid Excess 54
956 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
957 LDD002 Liddle Syndrome 53
958 P CRN108 Cranioectodermal Dysplasia 1 53
959 c PSD066 Pseudohypoparathyroidism, Type Ib 52
960 HMG002 Hemoglobinuria 52
961 P FNC043 Fanconi Anemia, Complementation Group E 52
962 MMB001 Membranoproliferative Glomerulonephritis 51
963 FRS002 Frasier Syndrome 51
964 P PLY017 Polyarteritis Nodosa 51
965 c PST041 Posterior Urethral Valves 51
966 PTS001 Patau Syndrome 50
967 P PSD015 Pseudohypoparathyroidism 50
968 CTY001 Cat Eye Syndrome 49
969 HRT031 Hartnup Disorder 48
970 NRM019 Neuraminidase Deficiency 47
971 LGH004 Light Chain Deposition Disease 47
972 c BRD044 Bardet-Biedl Syndrome 17 46
973 GLC011 Galactose Epimerase Deficiency 46
974 FSH001 Fish-Eye Disease 45
975 MSN001 Mesangial Proliferative Glomerulonephritis 45
976 c BRD020 Bardet-Biedl Syndrome 8 44
977 c XNT010 Xanthinuria, Type I 43
978 c BRD018 Bardet-Biedl Syndrome 6 43
979 c BRD048 Bardet-Biedl Syndrome 18 42
980 c BRD016 Bardet-Biedl Syndrome 4 42
981 GLC004 Galactokinase Deficiency 42
982 c BRD033 Bardet-Biedl Syndrome 13 41
983 c BRD032 Bardet-Biedl Syndrome 14 40
984 c BRD015 Bardet-Biedl Syndrome 3 40
985 CMP042 Complement Factor H Deficiency 39
986 c PSD117 Pseudohypoparathyroidism, Type Ic 39
987 IMM001 Immune-Complex Glomerulonephritis 39
988 c BRD035 Bardet-Biedl Syndrome 15 38
989 c BRD017 Bardet-Biedl Syndrome 5 37
990 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
991 c FNC045 Fanconi Anemia, Complementation Group F 35
992 c SYS061 Systemic Lupus Erythematosus 16 35
993 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
994 c BRD045 Bardet-Biedl Syndrome 19 35
995 c XNT011 Xanthinuria, Type Ii 34
996 c PSD104 Pseudohypoparathyroidism, Type Ii 34
997 PTT002 Potter's Syndrome 34
998 c BRD047 Bardet-Biedl Syndrome 16 33
999 c FNC028 Fanconi Anemia, Complementation Group L 32
1000 c SYS043 Systemic Lupus Erythematosus 1 32
1001 c BRD019 Bardet-Biedl Syndrome 7 31
1002 PCM002 Pauci-Immune Glomerulonephritis 30
1003 CTN019 Cutaneous Polyarteritis Nodosa 29
1004 INT258 Interstitial Nephritis, Karyomegalic 28
1005 c FNC024 Fanconi Anemia, Complementation Group D1 28
1006 TBL025 Tubulointerstitial Nephritis with Uveitis 28
1007 c FNC023 Fanconi Anemia, Complementation Group N 27
1008 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
1009 c BRD050 Bardet-Biedl Syndrome 21 26
1010 MTH077 Methylmalonic Aciduria, Cbla Type 26
1011 c ALG016 Alagille Syndrome 2 26
1012 HYP648 Hypertension and Brachydactyly Syndrome 26
1013 c FNC046 Fanconi Anemia, Complementation Group P 25
1014 c CRN109 Cranioectodermal Dysplasia 2 25
1015 c FNC029 Fanconi Anemia, Complementation Group I 25
1016 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 24
1017 c FNC047 Fanconi Anemia, Complementation Group Q 24
1018 c CRN111 Cranioectodermal Dysplasia 4 24
1019 AXL004 Axial Mesodermal Dysplasia Spectrum 23
1020 c BRD051 Bardet-Biedl Syndrome 20 23
1021 c BRD021 Bardet-Biedl Syndrome 9 23
1022 c CRN110 Cranioectodermal Dysplasia 3 23
1023 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
1024 FBR085 Fibrillary Glomerulonephritis 23
1025 HYP344 Hyperthyroidism, Familial Gestational 22
1026 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 22
1027 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
1028 c FNC048 Fanconi Anemia, Complementation Group O 22
1029 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
1030 URC005 Urachal Cyst 22
1031 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 21
1032 c FNC025 Fanconi Anemia, Complementation Group J 21
1033 FCC002 Faciocardiorenal Syndrome 21
1034 c FNC057 Fanconi Anemia, Complementation Group U 21
1035 c FNC058 Fanconi Anemia, Complementation Group R 20
1036 c FNC052 Fanconi Anemia, Complementation Group T 20
1037 c FNC056 Fanconi Anemia, Complementation Group V 20
1038 URM001 Uremic Neuropathy 20
1039 c SYS038 Systemic Lupus Erythematosus 2 19
1040 DYS180 Dyschondrosteosis and Nephritis 18
1041 c SYS069 Systemic Lupus Erythematosus 6 17
1042 c JVN046 Juvenile Polymyositis 17
1043 NNM007 Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 16
1044 c FNC061 Fanconi Anemia, Complementation Group W 16
1045 c SYS040 Systemic Lupus Erythematosus 10 16
1046 INF059 Infundibulopelvic Dysgenesis 15
1047 c SYS053 Systemic Lupus Erythematosus 5 15
1048 c SYS041 Systemic Lupus Erythematosus 9 15
1049 P ACQ013 Acquired Fructose Intolerance 15
1050 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 15
1051 DPL007 Duplication of Urethra 15
1052 c SYS046 Systemic Lupus Erythematosus 3 14
1053 c SYS065 Systemic Lupus Erythematosus 11 14
1054 c SYS055 Systemic Lupus Erythematosus 12 14
1055 c SYS051 Systemic Lupus Erythematosus 4 13
1056 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
1057 c SYS045 Systemic Lupus Erythematosus 14 11
1058 c SYS052 Systemic Lupus Erythematosus 13 11
1059 c SYS048 Systemic Lupus Erythematosus 8 11
1060 c SYS047 Systemic Lupus Erythematosus 7 11
1061 c SYS067 Systemic Lupus Erythematosus 15 11
1062 PCM003 Pauci-Immune Glomerulonephritis Without Anca 9
1063 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1064 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 8
1065 URT019 Urethral Gland Abscess 8
1066 GLB017 Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 8
1067 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1068 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1069 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
1070 AMY082 Amyloidosis, Familial Visceral 47
1071 P OST001 Osteopetrosis 70
1072 c OST131 Osteopetrosis, Autosomal Dominant 2 43
1073 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1074 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1075 c OST129 Osteopetrosis, Autosomal Recessive 2 33
1076 c OST163 Osteopetrosis, Autosomal Recessive 3 33
1077 c OST134 Osteopetrosis, Autosomal Recessive 6 31
1078 c OST136 Osteopetrosis, Autosomal Recessive 7 25
1079 c OST125 Osteopetrosis, Autosomal Dominant 1 24
1080 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1081 c OST120 Osteopetrosis, Autosomal Recessive 5 23
1082 c OST137 Osteopetrosis, Autosomal Recessive 4 23
1083 ALP046 Alport Syndrome, X-Linked 74
1084 CLL002 Collecting Duct Carcinoma 43
1085 SCH016 Schimke Immunoosseous Dysplasia 47
1086 P MLN066 Melanoma, Cutaneous Malignant 1 60
1087 c MLN043 Melanoma, Cutaneous Malignant 8 26
1088 c MLN067 Melanoma, Cutaneous Malignant 2 20
1089 c MLN075 Melanoma, Cutaneous Malignant 3 20
1090 c MLN077 Melanoma, Cutaneous Malignant 9 18
1091 c MLN076 Melanoma, Cutaneous Malignant 5 16
1092 c MLN055 Melanoma, Cutaneous Malignant 10 16
1093 c MLN042 Melanoma, Cutaneous Malignant 6 15
1094 c MLN074 Melanoma, Cutaneous Malignant 4 15
1095 c MLN040 Melanoma, Cutaneous Malignant 7 14
1096 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 34
1097 SMT004 Smith-Lemli-Opitz Syndrome 70
1098 P TWN003 Townes-Brocks Syndrome 57
1099 MCK007 Muckle-Wells Syndrome 64
1100 c ALP073 Alport Syndrome, Autosomal Recessive 50
1101 DNR002 Duane-Radial Ray Syndrome 44
1102 GDP001 Goodpasture Syndrome 55
1103 P HML001 Hemolytic-Uremic Syndrome 50
1104 HPT014 Hepatorenal Syndrome 49
1105 MRC004 Murcs Association 31
1106 MLL009 Mullerian Aplasia 21
1107 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
1108 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1109 3MC003 3mc Syndrome 42
1110 LYM029 Lymphedema-Distichiasis Syndrome 41
1111 DNN002 Donnai-Barrow Syndrome 40
1112 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 27
1113 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
1114 ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 17
1115 c RNL034 Renal Cell Carcinoma 4 12
1116 KDN010 Kidney Osteogenic Sarcoma 11
1117 SNT001 Santos Mateus Leal Syndrome 9
1118 c RNL033 Renal Carcinoma, Familial 5
1119 P NNN008 Noonan Syndrome 1 77
1120 SCK003 Sickle Cell Anemia 73
1121 P FML018 Familial Mediterranean Fever 73
1122 WLS001 Wilson Disease 72
1123 WGN006 Wegener Granulomatosis 71
1124 c BTT014 Beta-Thalassemia 70
1125 P SYS005 Systemic Scleroderma 67
1126 P TMP003 Temporal Arteritis 67
1127 MXD005 Mixed Connective Tissue Disease 66
1128 c LCL006 Localized Scleroderma 66
1129 P THL005 Thalassemia 65
1130 P DRM010 Dermatomyositis 65
1131 c GLY008 Glycogen Storage Disease Ii 64
1132 VLC001 Velocardiofacial Syndrome 64
1133 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1134 P HYP802 Hypocalcemia, Autosomal Dominant 1 64
1135 P SRC025 Sarcoidosis 1 63
1136 P THR005 Thrombotic Thrombocytopenic Purpura 63
1137 DBT087 Diabetes Insipidus, Neurohypophyseal 62
1138 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1139 P GLY013 Glycogen Storage Disease 61
1140 c SCL052 Scleroderma, Familial Progressive 60
1141 c ALP101 Alpha-Thalassemia 60
1142 ALP103 Alpha-1-Antitrypsin Deficiency 60
1143 c GLY060 Glycogen Storage Disease Ia 57
1144 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1145 c GLY003 Glycogen Storage Disease Iii 56
1146 PLY156 Polycystic Kidney Disease 4 with or Without Hepatic Disease 56
1147 c HYP731 Hyperaldosteronism, Familial, Type I 56
1148 NLP001 Nail-Patella Syndrome 56
1149 CHL028 Childhood Type Dermatomyositis 55
1150 c TYR012 Tyrosinemia, Type I 55
1151 c GLY004 Glycogen Storage Disease V 55
1152 CPR004 Coproporphyria, Hereditary 54
1153 c ORF040 Orofaciodigital Syndrome Viii 53
1154 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53
1155 DFF035 Diffuse Cutaneous Systemic Sclerosis 53
1156 c ORF037 Orofaciodigital Syndrome I 51
1157 P OLV001 Olivopontocerebellar Atrophy 51
1158 c GLY005 Glycogen Storage Disease Vi 51
1159 c GLY007 Glycogen Storage Disease Iv 51
1160 c RBN021 Rubinstein-Taybi Syndrome 1 50
1161 P HML033 Hemolytic Uremic Syndrome, Atypical 1 49
1162 c GLY011 Glycogen Storage Disease Vii 48
1163 P TYR004 Tyrosinemia 48
1164 RYN003 Reynolds Syndrome 47
1165 LMT001 Limited Scleroderma 47
1166 SCR020 Sacral Defect with Anterior Meningocele 46
1167 P ORF001 Orofaciodigital Syndrome 46
1168 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 45
1169 c TYR013 Tyrosinemia, Type Ii 45
1170 c ORF034 Orofaciodigital Syndrome Vi 43
1171 c NNN010 Noonan Syndrome 3 42
1172 c ADL027 Adult Dermatomyositis 41
1173 c GLY098 Glycogen Storage Disease, Type Ixd 40
1174 c TYR011 Tyrosinemia, Type Iii 39
1175 c NNN012 Noonan Syndrome 5 39
1176 HYP193 Hypocomplementemic Urticarial Vasculitis 38
1177 c GLY016 Glycogen Storage Disease Ib 36
1178 P FML156 Familial Hyperaldosteronism 35
1179 c GLY023 Glycogen Storage Disease Type 0 34
1180 c ORF035 Orofaciodigital Syndrome Iv 34
1181 c HYP600 Hyperaldosteronism, Familial, Type Ii 33
1182 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1183 P GLM015 Glomerulopathy with Fibronectin Deposits 2 30
1184 c GLY044 Glycogen Storage Disease Ixc 30
1185 c SRC023 Sarcoidosis 2 30
1186 c GLY057 Glycogen Storage Disease X 30
1187 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1188 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 29
1189 c NNN011 Noonan Syndrome 4 29
1190 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1191 c GLY017 Glycogen Storage Disease Ic 28
1192 c HYP438 Hyperaldosteronism, Familial, Type Iii 28
1193 c NNN021 Noonan Syndrome 8 27
1194 c ORF033 Orofaciodigital Syndrome V 27
1195 c GLY097 Glycogen Storage Disease Ixb 27
1196 c GLY043 Glycogen Storage Disease Xii 27
1197 c NNN025 Noonan Syndrome 10 26
1198 IDP085 Idiopathic Infantile Hypercalcemia 26
1199 c GLY009 Glycogen Storage Disease Xv 26
1200 c NNN013 Noonan Syndrome 6 26
1201 c NNN009 Noonan Syndrome 2 26
1202 c ORF038 Orofaciodigital Syndrome Iii 25
1203 c NNN024 Noonan Syndrome 9 25
1204 c ORF036 Orofaciodigital Syndrome Xiv 24
1205 c ORF043 Orofaciodigital Syndrome Ix 24
1206 c ORF041 Orofaciodigital Syndrome X 23
1207 c JVN019 Juvenile Temporal Arteritis 23
1208 IMM053 Immunotactoid Glomerulopathy 23
1209 c NNN020 Noonan Syndrome 7 23
1210 c GLY059 Glycogen Storage Disease Xiii 22
1211 c ORF045 Orofaciodigital Syndrome Xv 22
1212 c ORF042 Orofaciodigital Syndrome Xi 21
1213 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1214 c FML344 Familial Mediterranean Fever, Autosomal Dominant 21
1215 NRF010 Neurofaciodigitorenal Syndrome 21
1216 c ORF046 Orofaciodigital Syndrome Xvi 21
1217 c GLY006 Glycogen Storage Disease Viii 19
1218 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
1219 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 19
1220 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
1221 c GLM014 Glomerulopathy with Fibronectin Deposits 1 18
1222 c GLY093 Glycogen Storage Disease Ixa 17
1223 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 17
1224 GRH002 Graham Boyle Troxell Syndrome 15
1225 c OLV005 Olivopontocerebellar Atrophy V 15
1226 c ORF006 Orofaciodigital Syndrome 13 14
1227 c ORF005 Orofaciodigital Syndrome 12 14
1228 c ORF039 Orofaciodigital Syndrome Vii 13
1229 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
1230 c GLY001 Glycogen Storage Disease Ix 12
1231 c SRC024 Sarcoidosis 3 10
1232 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1233 VSC006 Vascular Cancer 43
1234 MYL069 Myeloma, Multiple 86
1235 VNH007 Von Hippel-Lindau Syndrome 72
1236 P ALG028 Alagille Syndrome 1 68
1237 P PRP003 Porphyria Cutanea Tarda 67
1238 ADR054 Adrenocortical Carcinoma, Hereditary 63
1239 BRG013 Buerger Disease 62
1240 LSC001 Lesch-Nyhan Syndrome 62
1241 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60
1242 PSD014 Pseudopseudohypoparathyroidism 56
1243 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51
1244 P CRY007 Cryoglobulinemia, Familial Mixed 49
1245 HYP741 Hyperparathyroidism 2 with Jaw Tumors 49
1246 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 49
1247 RGH009 Right Atrial Isomerism 48
1248 ESN020 Eosinophilic Granulomatosis with Polyangiitis 47
1249 HYP550 Hypomagnesemia 1, Intestinal 38
1250 IMM073 Immunoglobulin a Vasculitis 28
1251 HYP249 Hyperthyroidism, Nonautoimmune 27
1252 P MGL001 Megaloblastic Anemia 52
1253 VSC044 Visceral Myopathy 52
1254 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45
1255 c MGL018 Megaloblastic Anemia 1 43



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