Nephrological Diseases Category (1794 diseases)


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

# Family MCID Name MIFTS
1 P MPL001 Maple Syrup Urine Disease 68
2 P BLD134 Bladder Cancer 79
3 CNG116 Congenital Nephrotic Syndrome Finnish Type 19
4 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 37
5 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 31
6 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 20
7 SML031 Small Cell Carcinoma of the Bladder 45
8 P HYP658 Hypoplastic Amelogenesis Imperfecta 25
9 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 19
10 NRG002 Neurogenic Bladder 55
11 c MCR113 Microvascular Complications of Diabetes 3 55
12 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 37
13 c BKV001 Bk-Virus Nephropathy 24
14 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 7
15 P IGN003 Iga Nephropathy 1 50
16 BLD131 Bladder Urothelial Carcinoma 62
17 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 29
18 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
19 c WLM018 Wilms Tumor 5 63
20 c WLM005 Wilms Tumor 2 27
21 P HRD009 Hereditary Wilms' Tumor 26
22 c WLM015 Wilms Tumor 3 18
23 c WLM017 Wilms Tumor 4 18
24 c FML094 Familial Wilms Tumor 2 9
25 BLD029 Bladder Dome Cancer 8
26 c NPH019 Nephronophthisis 1 47
27 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 45
28 SPR001 Superficial Urinary Bladder Cancer 32
29 LWC001 Low Compliance Bladder 45
30 c NPH030 Nephronophthisis 2 44
31 BLD049 Bladder Transitional Cell Papilloma 35
32 LMY010 Leiomyomatosis, Diffuse, with Alport Syndrome 22
33 NPH002 Nephrogenic Adenoma of Urinary Bladder 21
34 c HYP302 Hypomagnesemia 4, Renal 20
35 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 17
36 BLD026 Bladder Trigone Cancer 7
37 c HYP376 Hypouricemia, Renal, 2 25
38 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 9
39 BLD047 Bladder Squamous Cell Carcinoma 39
40 c BLD008 Bladder Carcinoma in Situ 34
41 c NPH032 Nephronophthisis 4 41
42 URN022 Urinary Tract Infections, Recurrent 26
43 PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 23
44 c HYP445 Hypomagnesemia 6, Renal 20
45 BRC111 Brachymesomelia-Renal Syndrome 14
46 URN005 Urinary Bladder Villous Adenoma 9
47 JWT001 Jewett-Marshall Bladder Cancer 6
48 URN003 Urinary Schistosomiasis 45
49 c MCR112 Microvascular Complications of Diabetes 2 42
50 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 39
51 BLD025 Bladder Sarcoma 22
52 RNL094 Renal Dysplasia, Cystic 35
53 c NPH031 Nephronophthisis 3 42
54 c BRN131 Branchiootorenal Syndrome 1 40
55 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 24
56 URN004 Urinary Bladder Inverted Papilloma 21
57 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 20
58 BLD046 Bladder Papillary Transitional Cell Neoplasm 19
59 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
60 PLY043 Polyomavirus Allograft Nephropathy 10
61 BLD003 Bladder Lateral Wall Cancer 9
62 SPL022 Split Hand Urinary Anomalies Spina Bifida 8
63 HST012 Histidinuria Renal Tubular Defect 7
64 BLD027 Bladder Neck Cancer 6
65 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 5
66 c URN006 Urinary Bladder Posterior Wall Cancer 5
67 P URN007 Urinary Bladder Anterior Wall Cancer 5
68 RDR001 Radio Renal Syndrome 4
69 c VSC019 Vesicoureteral Reflux 1 62
70 c MCR120 Microvascular Complications of Diabetes 7 48
71 c MCR133 Microvascular Complications of Diabetes 4 42
72 c MCR130 Microvascular Complications of Diabetes 6 42
73 c NPH035 Nephronophthisis 9 40
74 c NPH075 Nephronophthisis 18 37
75 P FML284 Familial Vesicoureteral Reflux 27
76 NPH037 Nephronophthisis-Like Nephropathy 1 27
77 c VSC043 Vesicoureteral Reflux 6 14
78 c VSC042 Vesicoureteral Reflux 5 13
79 c VSC040 Vesicoureteral Reflux 4 12
80 c VSC041 Vesicoureteral Reflux 7 12
81 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
82 CYS010 Cystinosis 55
83 DCR008 Dicarboxylic Aminoaciduria 43
84 CYS045 Cystinosis, Adult Nonnephropathic 31
85 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 23
86 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 23
87 BLD023 Bladder Leiomyoma 20
88 c NPH053 Nephronophthisis 11 41
89 c NPH068 Nephronophthisis 16 38
90 c NPH077 Nephronophthisis 19 36
91 c NPH069 Nephronophthisis 15 35
92 c NPH033 Nephronophthisis 7 34
93 INV004 Invasive Bladder Transitional Cell Carcinoma 32
94 BLD028 Bladder Lymphoma 32
95 c NPH065 Nephronophthisis 13 32
96 RNL008 Renal Artery Atheroma 27
97 c NPH067 Nephronophthisis 12 25
98 BLD065 Blue Diaper Syndrome 20
99 c RNL099 Renal Hypodysplasia/aplasia 2 20
100 RDL030 Radial-Renal Syndrome 17
101 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 16
102 RRR008 Rare Urinary Tract Tumor 7
103 BLD022 Bladder Flat Intraepithelial Lesion 6
104 INB002 Inborn Renal Aminoaciduria 6
105 ACR045 Acro-Pectoro-Renal Field Defect 6
106 RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 5
107 NPH018 Nephrogenic Systemic Fibrosis 51
108 IMN001 Iminoglycinuria 45
109 c NPH071 Nephronophthisis 14 37
110 P FNC026 Fanconi Renotubular Syndrome 1 36
111 c IGN004 Iga Nephropathy 3 23
112 c NPH086 Nephronophthisis 20 22
113 c FNC049 Fanconi Renotubular Syndrome 3 19
114 c FNC034 Fanconi Renotubular Syndrome 2 19
115 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 19
116 FGN001 Feigenbaum Bergeron Richardson Syndrome 9
117 HYP348 Hyperglycinuria 42
118 PNT006 Pentosuria 29
119 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 28
120 ACR102 Acrorenal-Mandibular Syndrome 26
121 c BRN086 Branchiootorenal Syndrome 2 22
122 BTM003 Beta-Aminoisobutyric Aciduria 20
123 DNM003 Daneman Davy Mancer Syndrome 10
124 STK001 Saito Kuba Tsuruta Syndrome 9
125 RNR002 Ren-Related Kidney Disease 7
126 P GLL020 Gallbladder Disease 60
127 URN010 Urinary Tract Obstruction 59
128 c GLL024 Gallbladder Disease 1 53
129 HYP114 Hypertensive Nephropathy 36
130 MRC004 Murcs Association 31
131 RNL013 Renal Adenoma 28
132 c GLL027 Gallbladder Disease 4 26
133 c URF002 Urofacial Syndrome 2 22
134 WBB001 Webb-Dattani Syndrome 20
135 c IGN002 Iga Nephropathy 2 18
136 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 16
137 ERY007 Erythropoietin Polycythemia 16
138 ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 15
139 OBS665 Obsolete: Shy-Drager Syndrome 15
140 c RNL117 Renal Tubular Acidosis Iii 14
141 HST019 Histidinuria Due to a Renal Tubular Defect 13
142 c GLL026 Gallbladder Disease 3 12
143 RNL036 Renal Dysplasia Diffuse Cystic 12
144 URT023 Ureteric Orifice Cancer 12
145 c GLL025 Gallbladder Disease 2 12
146 BLR029 Biliary Malformation with Renal Tubular Insufficiency 12
147 BTM002 Beta-Amino Acids, Renal Transport of 12
148 NNN004 Non-Invasive Bladder Urothelial Carcinoma 9
149 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 9
150 NPH025 Nephrotic Syndrome Ocular Anomalies 8
151 LNG042 Langer Nishino Yamaguchi Syndrome 7
152 GRN023 Green Sandford Davison Syndrome 7
153 JJN005 Jejunal Atresia with Renal Adysplasia 6
154 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
155 BLD011 Bladder Verrucous Squamous Cell Carcinoma 5
156 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 5
157 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
158 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 5
159 URN021 Urinary Bladder, Atony of 5
160 NNT002 Neonatal Urinary Tract Infectious Disease 5
161 NNR001 Non-Renal Secondary Hyperparathyroidism 4
162 c BLT012 Bilateral Renal Agenesis Dominant Type 4
163 STN004 Stone in Bladder Diverticulum 4
164 DBL008 Double Uterus-Hemivagina-Renal Agenesis 3
165 GNT076 Genetic Renal or Urinary Tract Malformation 2
166 GNT143 Genetic Non-Syndromic Renal or Urinary Tract Malformation 2
167 P MCR115 Microvascular Complications of Diabetes 5 67
168 HST006 Histidinemia 49
169 URT031 Ureteral Disease 42
170 RTR011 Retroperitoneal Fibrosis 41
171 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 40
172 c JBR004 Joubert Syndrome 2 40
173 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
174 BLD040 Bladder Benign Neoplasm 25
175 P C1Q005 C1q Nephropathy 22
176 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 21
177 P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 21
178 MPL011 Maple Syrup Urine Disease, Mild Variant 18
179 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 18
180 SQL002 Squalene Synthase Deficiency 17
181 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 16
182 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 16
183 c NPH108 Nephrotic Syndrome, Type 20 15
184 ACT006 Acute Gonococcal Cystitis 10
185 SLC010 Salcedo Syndrome 9
186 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 55
187 CYS019 Cystathioninuria 50
188 c MTC061 Mitochondrial Dna Depletion Syndrome 1 47
189 P MTC010 Mitochondrial Dna Depletion Syndrome 47
190 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 45
191 c MTC054 Mitochondrial Dna Depletion Syndrome 7 44
192 VCT001 Vacterl Association 43
193 c LTH007 Lethal Congenital Contracture Syndrome 1 42
194 c LTH008 Lethal Congenital Contracture Syndrome 2 42
195 c MTC063 Mitochondrial Dna Depletion Syndrome 3 41
196 c MTC088 Mitochondrial Dna Depletion Syndrome 13 40
197 c MTC058 Mitochondrial Dna Depletion Syndrome 6 38
198 P LTH003 Lethal Congenital Contracture Syndrome 38
199 c WLM011 Wilms Tumor 6 38
200 c MTC060 Mitochondrial Dna Depletion Syndrome 9 36
201 c MTC059 Mitochondrial Dna Depletion Syndrome 5 35
202 PYR004 Pyuria 34
203 c MTC062 Mitochondrial Dna Depletion Syndrome 2 34
204 PLV001 Pelvic Lipomatosis 33
205 c MDL021 Medullary Cystic Kidney Disease 2 28
206 c JBR011 Joubert Syndrome 7 27
207 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
208 c MTC014 Mitochondrial Dna Deletion Syndromes 27
209 c CRN111 Cranioectodermal Dysplasia 4 26
210 c CRN110 Cranioectodermal Dysplasia 3 26
211 GLT014 Glutathionuria 25
212 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
213 c LTH047 Lethal Congenital Contracture Syndrome 3 25
214 BRN121 Branchiootorenal/branchiootic Syndrome 25
215 c LTH027 Lethal Congenital Contracture Syndrome 5 25
216 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
217 c LTH039 Lethal Congenital Contracture Syndrome 11 23
218 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 23
219 c VSC046 Vesicoureteral Reflux 8 22
220 c LTH032 Lethal Congenital Contracture Syndrome 7 22
221 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
222 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
223 c LTH029 Lethal Congenital Contracture Syndrome 9 21
224 c LTH042 Lethal Congenital Contracture Syndrome 10 21
225 c VSC020 Vesicoureteral Reflux 2 21
226 c LTH030 Lethal Congenital Contracture Syndrome 8 21
227 c GLL047 Galloway-Mowat Syndrome 8 21
228 c VSC025 Vesicoureteral Reflux 3 21
229 c LTH026 Lethal Congenital Contracture Syndrome 4 20
230 c LTH031 Lethal Congenital Contracture Syndrome 6 20
231 STR095 Structural Heart Defects and Renal Anomalies Syndrome 16
232 c MTC182 Mitochondrial Dna Depletion Syndrome 16 16
233 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 8
234 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 8
235 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
236 LCH006 Lachiewicz Sibley Syndrome 6
237 P HYP726 Hypercalcemia, Infantile, 1 58
238 QFV001 Q Fever 58
239 LMY014 Leiomyoma, Uterine 57
240 SPT004 Septic Arthritis 55
241 c 3MT015 3-Methylglutaconic Aciduria, Type I 50
242 PRS129 Prostatic Hyperplasia, Benign 49
243 INV006 Inverted Papilloma 49
244 HNT002 Hantavirus Pulmonary Syndrome 48
245 c 3MT014 3-Methylglutaconic Aciduria, Type V 44
246 DFF021 Diffuse Mesangial Sclerosis 43
247 c ORT011 Orthostatic Hypotension 1 42
248 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 41
249 c ATS018 Autosomal Recessive Alport Syndrome 40
250 FML031 Female Stress Incontinence 40
251 HMR023 Hemorrhagic Cystitis 40
252 c MYG007 Myoglobinuria, Recurrent 37
253 CYS003 Cystitis Cystica 36
254 CLC011 Cloacal Exstrophy 36
255 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 35
256 c 3MT007 3-Methylglutaconic Aciduria 33
257 HWK001 Hawkinsinuria 33
258 RNL001 Renal Artery Obstruction 33
259 c ATS015 Autosomal Dominant Alport Syndrome 31
260 MLK004 Malakoplakia 31
261 5XP001 5-Oxoprolinase Deficiency 30
262 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 28
263 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
264 P ADL014 Adult Mesoblastic Nephroma 27
265 c ORT012 Orthostatic Hypotension 2 27
266 P PRM227 Primary Orthostatic Hypotension 26
267 HLZ001 Holzgreve Syndrome 24
268 c SNR016 Senior-Loken Syndrome 9 23
269 c FCL027 Focal Segmental Glomerulosclerosis 3 23
270 c INT262 Intermediate Maple Syrup Urine Disease 23
271 HYP683 Hypogonadism-Cataract Syndrome 23
272 c SNR005 Senior-Loken Syndrome 5 22
273 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
274 P RTN220 Retinal Ciliopathy 21
275 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 20
276 VSC014 Vascular Hyalinosis 19
277 LNP001 Loin Pain Hematuria Syndrome 18
278 GLM024 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 18
279 NPH097 Nephrosialidosis 17
280 FRS010 Forsythe-Wakeling Syndrome 17
281 PX2001 Pax2-Related Disorder 16
282 MTH075 Methionine Malabsorption Syndrome 14
283 CHR645 Chromosome 8q12.1-Q21.2 Deletion Syndrome 12
284 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 12
285 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 10
286 RNL116 Renal and Mullerian Duct Hypoplasia 10
287 KLL010 Kallikrein, Decreased Urinary Activity of 10
288 HYP787 Hypophosphatemia, Renal, with Intracerebral Calcifications 10
289 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 10
290 VCT003 Vacterl Hydrocephaly 9
291 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
292 NDL023 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities 8
293 c RNL048 Renal Tubular Acidosis, Distal, Type 3 8
294 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 8
295 URL004 Urolithiasis, Uric Acid, Autosomal Dominant 8
296 MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 7
297 PLV019 Pelvic Lipomatosis with Crossed Renal Ectopia 7
298 KRN006 Karandikar Maria Kamble Syndrome 7
299 SLG001 Selig Benacerraf Greene Syndrome 6
300 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 6
301 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
302 ULN026 Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 5
303 BLD024 Bladder Squamous Papilloma 5
304 EPT027 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 4
305 NPH099 Nephropathy, Chronic Tubulointerstitial 4
306 ALS004 Alsing Syndrome 4
307 BNR003 Ben Ari Shuper Mimouni Syndrome 4
308 OBS153 Obsolete: Craniosynostosis-Synostoses-Hypertensive Nephropathy Syndrome 4
309 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 4
310 GLY095 Glycoprotein, Renal 4
311 PLM171 Pulmonic Stenosis and Congenital Nephrosis 4
312 ALL011 Allain-Babin-Demarquez Syndrome 4
313 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
314 RNL124 Renal Disease with Cataract 3
315 BLL008 Billet Bear Syndrome 2
316 GNT063 Genetic Renal Tubular Disease 2
317 GNT064 Genetic Renal Tumor 2
318 NPH109 Nephropathy-Associated Ciliopathy 2
319 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 2
320 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 2
321 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 2
322 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 2
323 OBS652 Obsolete: Non-Pore-Loop Channelopathy Involved in Other Renal Tubular Disorder 2
324 WLS001 Wilson Disease 69
325 c GLY008 Glycogen Storage Disease Ii 68
326 c GLY060 Glycogen Storage Disease Ia 63
327 ALP103 Alpha-1-Antitrypsin Deficiency 63
328 c GLY003 Glycogen Storage Disease Iii 62
329 c GLY004 Glycogen Storage Disease V 60
330 P GLY013 Glycogen Storage Disease 59
331 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 58
332 HYD002 Hydronephrosis 58
333 P PYL005 Pyelonephritis 58
334 GLC004 Galactokinase Deficiency 57
335 c GLY011 Glycogen Storage Disease Vii 55
336 PRP082 Porphyria, Congenital Erythropoietic 55
337 c GLY007 Glycogen Storage Disease Iv 54
338 PLV003 Pelvic Inflammatory Disease 54
339 P DBT005 Diabetes Insipidus 54
340 c GLY005 Glycogen Storage Disease Vi 52
341 BCT004 Bacteriuria 48
342 HYP236 Hyperbilirubinemia, Rotor Type 46
343 FSH001 Fish-Eye Disease 45
344 c ACT042 Acute Pyelonephritis 44
345 URT001 Urethritis 44
346 c BRD012 Bardet-Biedl Syndrome 11 43
347 P PRL003 Proliferative Glomerulonephritis 43
348 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
349 CRS001 Crescentic Glomerulonephritis 42
350 URT037 Urethral Stricture 42
351 DNS007 Dense Deposit Disease 42
352 c GLY098 Glycogen Storage Disease, Type Ixd 42
353 c BRD032 Bardet-Biedl Syndrome 14 42
354 INF159 Infantile Sialic Acid Storage Disease 40
355 P XNT004 Xanthinuria 39
356 RDT001 Radiation Cystitis 39
357 c GLY044 Glycogen Storage Disease Ixc 38
358 c GLY016 Glycogen Storage Disease Ib 38
359 URT014 Ureterolithiasis 38
360 c CHR098 Chronic Pyelonephritis 38
361 c BRD047 Bardet-Biedl Syndrome 16 37
362 ACT040 Acute Poststreptococcal Glomerulonephritis 37
363 PYL004 Pyelitis 37
364 MTN001 Metanephric Adenoma 37
365 URT016 Urethral Diverticulum 36
366 P BRN042 Branchiootic Syndrome 36
367 PRN007 Perinephritis 36
368 c CHR020 Chronic Interstitial Cystitis 36
369 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 36
370 c ACT079 Acute Proliferative Glomerulonephritis 34
371 HRS011 Horseshoe Kidney 34
372 URT020 Ureterocele 34
373 c GLY097 Glycogen Storage Disease Ixb 33
374 DFF015 Diffuse Glomerulonephritis 33
375 c HRD142 Hereditary Xanthinuria 33
376 c PRM339 Primary Glomerular Disease 32
377 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 32
378 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 32
379 c VCT004 Vacterl Association with Hydrocephalus 32
380 c SPS036 Spastic Paraplegia 3 31
381 c GLY057 Glycogen Storage Disease X 31
382 c GLY043 Glycogen Storage Disease Xii 30
383 ORT001 Orthostatic Proteinuria 30
384 URT011 Urethral Calculus 30
385 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 30
386 TRG001 Trigonitis 29
387 TBL025 Tubulointerstitial Nephritis with Uveitis 29
388 c GLY009 Glycogen Storage Disease Xv 29
389 XNT001 Xanthogranulomatous Pyelonephritis 29
390 c GLY017 Glycogen Storage Disease Ic 29
391 OSC001 Oeis Complex 28
392 KDN013 Kidney Hypertrophy 27
393 c GLY023 Glycogen Storage Disease Type 0 27
394 c GLY001 Glycogen Storage Disease Ix 26
395 c BRN128 Branchiootic Syndrome 3 25
396 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 25
397 c GLY059 Glycogen Storage Disease Xiii 25
398 c PLY141 Polycystic Kidney Disease 5 25
399 c TRN053 Transient Pseudohypoaldosteronism 25
400 P VCT008 Vacterl with Hydrocephalus 24
401 P ACR072 Acrorenal Syndrome 24
402 c SNR015 Senior-Loken Syndrome 8 24
403 EXD002 Exudative Glomerulonephritis 24
404 c SBC010 Subacute Glomerulonephritis 24
405 c PSD094 Pseudohypoaldosteronism, Type Iib 23
406 ACT041 Acute Diffuse Nephritis 23
407 c GLY006 Glycogen Storage Disease Viii 23
408 c FCL055 Focal Segmental Glomerulosclerosis 9 23
409 c FCL053 Focal Segmental Glomerulosclerosis 8 22
410 FCC002 Faciocardiorenal Syndrome 22
411 c SNR006 Senior-Loken Syndrome 6 21
412 c GLY093 Glycogen Storage Disease Ixa 21
413 KDN009 Kidney Fibrosarcoma 20
414 c ACQ034 Acquired Central Diabetes Insipidus 20
415 c BRN073 Branchiootic Syndrome 2 19
416 c HRD156 Hereditary Central Diabetes Insipidus 19
417 PTN009 Patent Urachus 17
418 c CHR471 Chronic Hepatic Porphyria 16
419 ISL133 Isolated Epispadias 16
420 CLL035 Collagen Type Iii Glomerulopathy 14
421 ACT215 Actg2-Related Disorders 14
422 MGL007 Megalocytic Interstitial Nephritis 13
423 c CNG342 Congenital Central Diabetes Insipidus 12
424 PYL001 Pyeloureteritis Cystica 11
425 c ACR115 Acrorenal Syndrome, Autosomal Recessive 11
426 KDN003 Kidney Lipoma 10
427 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
428 c SCN055 Secondary Polyarteritis Nodosa 9
429 c BNG028 Benign Renovascular Hypertension 8
430 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 7
431 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
432 CNG106 Congenital Megalo-Ureter 6
433 c ACR048 Acrorenal Syndrome Recessive 6
434 c ATY048 Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 6
435 ABD005 Abderhalden Kaufmann Lignac Syndrome 5
436 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
437 UNL009 Unilateral Congenital Megacalycosis 4
438 BLK002 Balkan Hemorrhagic Fever 4
439 STR004 Stricture or Kinking of Ureter 4
440 NNC001 Non-Congenital Cyst of Kidney 4
441 FCL004 Focal Embolic Glomerulonephritis 3
442 MLT033 Multicentric Osteolysis Nephropathy 13
443 BLD039 Bladder Adenocarcinoma 37
444 HMT008 Hematuria, Benign Familial 53
445 BLD064 Bladder Cancer, Childhood 5
446 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 27
447 CHR176 Chromophil Renal Cell Carcinoma 24
448 BLD031 Bladder Signet Ring Cell Adenocarcinoma 10
449 c ATS420 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 24
450 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 17
451 BLD043 Bladder Clear Cell Adenocarcinoma 9
452 RNL097 Renal Artery Disease 44
453 HNM002 Hinman Syndrome 26
454 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 13
455 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 11
456 c MCR129 Microvascular Complications of Diabetes 1 67
457 TRN018 Transitional Cell Carcinoma 57
458 DNR002 Duane-Radial Ray Syndrome 49
459 RNL112 Renal, Genital, and Middle Ear Anomalies 11
460 BLD010 Bladder Colloid Adenocarcinoma 7
461 BLD014 Bladder Colonic Type Adenocarcinoma 6
462 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 5
463 BLD012 Bladder Urothelial Papillary Carcinoma 5
464 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 5
465 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 5
466 OCL029 Oculo Skeletal Renal Syndrome 3
467 ALK013 Alkaptonuria 57
468 AMN007 Aminoacylase 1 Deficiency 35
469 c TWN011 Townes-Brocks Syndrome 1 34
470 P FML068 Familial Hypocalciuric Hypercalcemia 50
471 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 43
472 SCL046 Scalp-Ear-Nipple Syndrome 42
473 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 37
474 ADL060 Adult Polyglucosan Body Disease 33
475 CMB011 Combined Malonic and Methylmalonic Aciduria 32
476 HYD030 Hydroxykynureninuria 26
477 BRN134 Brain Malformations with or Without Urinary Tract Defects 25
478 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
479 c GLL045 Galloway-Mowat Syndrome 6 24
480 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 17
481 c MYG006 Myoglobinuria, Autosomal Dominant 15
482 ELL004 Ellis Yale Winter Syndrome 7
483 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
484 MLT157 Multiple System Atrophy 1 71
485 P EMB005 Embryonal Rhabdomyosarcoma 52
486 ALP077 Alpha-Methylacetoacetic Aciduria 51
487 c MLG074 Malignant Mesenchymoma 50
488 GLY014 Glycerol Kinase Deficiency 47
489 c BRD013 Bardet-Biedl Syndrome 12 46
490 c RHB023 Rhabdomyosarcoma, Embryonal, 1 44
491 BLB005 Beaulieu-Boycott-Innes Syndrome 36
492 P MSN006 Mesenchymoma 35
493 MCR257 Microcephaly, Amish Type 33
494 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 33
495 c XLN231 X-Linked Alport Syndrome 32
496 TFR002 Tafro Syndrome 27
497 LMB076 Lumbar Syndrome 24
498 c GLL046 Galloway-Mowat Syndrome 7 23
499 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 22
500 LTB003 Ltbp4-Related Cutis Laxa 22
501 c BNG012 Benign Mesenchymoma 21
502 c RHB021 Rhabdomyosarcoma, Embryonal, 2 21
503 MLY011 Maleylacetoacetate Isomerase Deficiency 19
504 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 18
505 c RNL034 Renal Cell Carcinoma 4 18
506 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
507 ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 16
508 LBN003 Lubinsky Syndrome 16
509 HPT086 Hepatocyte Nuclear Factor 1ß -Associated Disease 16
510 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 15
511 CLP007 Clpb Deficiency 15
512 NPH050 Nephropathy, Progressive, with Deafness 13
513 HYP786 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy 13
514 URT041 Urethral Obstruction Sequence 12
515 c ADL020 Adult Malignant Mesenchymoma 12
516 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 12
517 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 10
518 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 10
519 c HYP799 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion 10
520 BLD050 Bladder Urachal Carcinoma 9
521 BLD021 Bladder Urachal Adenocarcinoma 8
522 SNT001 Santos Mateus Leal Syndrome 8
523 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 8
524 P OBS777 Obsolete: Male Infertility with Impaired Virilization 7
525 c OBS792 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder 6
526 BLD013 Bladder Urachal Squamous Cell Carcinoma 6
527 FRS005 Fraser Jequier Chen Syndrome 6
528 c OBS790 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect 6
529 BLD004 Bladder Urachal Urothelial Carcinoma 5
530 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
531 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 5
532 GLL001 Gall Bladder Carcinoma in Situ 5
533 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
534 c OBS776 Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder 4
535 c OBS791 Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia 4
536 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 4
537 BLD017 Bladder Mixed Adenocarcinoma 4
538 OBS173 Obsolete: Neuroaxonal Dystrophy-Renal Tubular Acidosis Syndrome 3
539 c OBS769 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease 3
540 c OBS782 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease 3
541 c OBS783 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure 3
542 c OBS784 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity 3
543 c OBS785 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease 3
544 c OBS786 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis 3
545 c OBS787 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder 3
546 c OBS788 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease 3
547 c OBS789 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness 3
548 c OBS793 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related 3
549 c OBS794 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin 3
550 c OBS795 Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis 3
551 c OBS796 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma 3
552 NNR019 Non-Rare Renal Disease 3
553 OBS177 Obsolete: Oculo-Skeletal-Renal Syndrome 3
554 RRG073 Rare Genetic Renal Disease 3
555 OBS604 Obsolete: Arterial Hypertension Due to Renal Artery Stenosis Secondary to Vasculitis 3
556 OBS650 Obsolete: Platelet Function Disease Associated with Renal Insufficiency 3
557 P NNN008 Noonan Syndrome 1 76
558 VNH007 Von Hippel-Lindau Syndrome 73
559 P KDN018 Kidney Disease 73
560 P JBR020 Joubert Syndrome 1 72
561 P LVR013 Liver Disease 71
562 P OST001 Osteopetrosis 70
563 FBR012 Fabry Disease 68
564 c HML033 Hemolytic Uremic Syndrome, Atypical 1 67
565 c HRD010 Hereditary Spastic Paraplegia 67
566 P NPH012 Nephrotic Syndrome 65
567 c ACT068 Acute Cystitis 63
568 GT001 Gout 63
569 c BRN108 Branchiootic Syndrome 1 62
570 P BCK002 Beckwith-Wiedemann Syndrome 62
571 P CTR002 Cataract 62
572 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 61
573 c PRX045 Peroxisome Biogenesis Disorder 1b 61
574 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
575 P PLY014 Polycystic Kidney Disease 61
576 LSC001 Lesch-Nyhan Syndrome 61
577 c ACT071 Acute Kidney Failure 60
578 ALS001 Alstrom Syndrome 60
579 WLL001 Williams-Beuren Syndrome 60
580 END030 End Stage Renal Failure 60
581 P CYS018 Cystitis 59
582 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
583 P THR005 Thrombotic Thrombocytopenic Purpura 59
584 P FML052 Familial Cold Autoinflammatory Syndrome 58
585 c PRX059 Peroxisome Biogenesis Disorder 1a 57
586 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
587 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57
588 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
589 c NPH055 Nephrotic Syndrome, Type 1 56
590 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 55
591 P CYS039 Cystic Kidney Disease 55
592 VSC044 Visceral Myopathy 54
593 MMB001 Membranoproliferative Glomerulonephritis 54
594 P MMB011 Membranous Nephropathy 54
595 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
596 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
597 c ACT134 Acute Liver Failure 53
598 c OST163 Osteopetrosis, Autosomal Recessive 3 53
599 P RNL017 Renal Oncocytoma 52
600 c OST131 Osteopetrosis, Autosomal Dominant 2 51
601 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
602 c PST041 Posterior Urethral Valves 50
603 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
604 URM002 Uremia 50
605 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 50
606 P ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 50
607 c INF145 Infantile Liver Failure Syndrome 1 50
608 P RNV001 Renovascular Hypertension 49
609 RNL077 Renal Fibrosis 49
610 P RNL007 Renal Tubular Acidosis 49
611 c BRD016 Bardet-Biedl Syndrome 4 48
612 P FNC004 Fanconi Syndrome 48
613 MTH078 Methylmalonic Aciduria, Cblb Type 47
614 ANR004 Anuria 47
615 c ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 46
616 c NNN010 Noonan Syndrome 3 46
617 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 46
618 INT067 Interstitial Nephritis 46
619 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
620 MYH015 Myh-9 Related Disease 45
621 P PSD003 Pseudohypoaldosteronism 45
622 INP001 Inappropriate Adh Syndrome 45
623 P HYP733 Hypercalciuria, Absorptive, 2 45
624 c NPH049 Nephrotic Syndrome, Type 2 45
625 c CTR098 Cataract 1, Multiple Types 45
626 P HYP347 Hypotonia-Cystinuria Syndrome 44
627 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 44
628 OBS082 Obstructive Nephropathy 44
629 MLT084 Multicystic Dysplastic Kidney 43
630 IDP073 Idiopathic Hypercalciuria 43
631 IDP091 Idiopathic Nephrotic Syndrome 43
632 c OST136 Osteopetrosis, Autosomal Recessive 7 43
633 c JBR015 Joubert Syndrome 6 43
634 P MYG005 Myoglobinuria 43
635 PRS042 Prostate Disease 42
636 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
637 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
638 ACT003 Acute Kidney Tubular Necrosis 42
639 P GLM044 Glomerular Disease 42
640 c OST129 Osteopetrosis, Autosomal Recessive 2 42
641 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
642 c NPH054 Nephrotic Syndrome, Type 3 42
643 KRN001 Korean Hemorrhagic Fever 42
644 c JBR024 Joubert Syndrome 14 42
645 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
646 c NNN013 Noonan Syndrome 6 41
647 c FML253 Familial Cold Autoinflammatory Syndrome 3 41
648 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
649 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
650 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
651 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
652 THR123 Thrombotic Microangiopathy 41
653 c NNN011 Noonan Syndrome 4 41
654 RNL025 Renal Hypoplasia 40
655 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
656 c FML015 Familial Nephrotic Syndrome 40
657 P ANT061 Antenatal Bartter Syndrome 40
658 c FML117 Familial Cold Autoinflammatory Syndrome 2 40
659 IMM001 Immune-Complex Glomerulonephritis 40
660 c NPH070 Nephrotic Syndrome, Type 6 39
661 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
662 GNT029 Genetic Hypertension 39
663 c OST126 Osteopetrosis, Autosomal Recessive 1 39
664 AMN006 Aminoaciduria 39
665 c CTR096 Cataract 6, Multiple Types 38
666 c CTR130 Cataract 9, Multiple Types 38
667 c NNN024 Noonan Syndrome 9 38
668 c CTR103 Cataract 4, Multiple Types 38
669 c JBR025 Joubert Syndrome 17 38
670 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
671 c CTR132 Cataract 3, Multiple Types 38
672 TBS001 Tabes Dorsalis 38
673 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
674 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
675 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
676 BLD009 Bladder Neck Obstruction 37
677 URT004 Urethral Syndrome 37
678 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
679 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
680 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
681 c NNN021 Noonan Syndrome 8 37
682 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
683 c MCK033 Meckel Syndrome, Type 4 36
684 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 36
685 c NNN012 Noonan Syndrome 5 36
686 c OST134 Osteopetrosis, Autosomal Recessive 6 36
687 c JBR041 Joubert Syndrome 3 36
688 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
689 c ATS282 Autosomal Recessive Malignant Osteopetrosis 36
690 BSM001 Basement Membrane Disease 36
691 c CTR141 Cataract 21, Multiple Types 35
692 P CYS007 Cystic Nephroma 35
693 c CTR118 Cataract 14, Multiple Types 35
694 c FNC059 Fanconi-Like Syndrome 35
695 c CTR170 Cataract 30, Multiple Types 35
696 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
697 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
698 c NNN025 Noonan Syndrome 10 35
699 c CTR174 Cataract 40 35
700 c CTR122 Cataract 5, Multiple Types 35
701 c CTR115 Cataract 16, Multiple Types 35
702 P BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 35
703 c SPS021 Spastic Paraplegia 10 35
704 ANT002 Anti-Basement Membrane Glomerulonephritis 34
705 c NNN020 Noonan Syndrome 7 34
706 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
707 c CTR145 Cataract 44 34
708 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
709 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34
710 NPH078 Nephrolithiasis, Uric Acid 34
711 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
712 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
713 c NNN009 Noonan Syndrome 2 34
714 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
715 c JBR022 Joubert Syndrome 20 34
716 PTT002 Potter's Syndrome 34
717 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
718 c LVR030 Liver Failure, Infantile, Transient 33
719 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
720 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
721 c JBR012 Joubert Syndrome 5 32
722 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 32
723 c NPH072 Nephrotic Syndrome, Type 7 32
724 c NPH047 Nephrotic Syndrome, Type 4 32
725 TRL002 Tarlov Cysts 32
726 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
727 CLL007 Cellular Congenital Mesoblastic Nephroma 32
728 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
729 c CTR129 Cataract 31, Multiple Types 31
730 VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 31
731 c CTR102 Cataract 2, Multiple Types 31
732 c PRX060 Peroxisome Biogenesis Disorder 5a 31
733 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
734 c SPS025 Spastic Paraplegia 15 31
735 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
736 c OST125 Osteopetrosis, Autosomal Dominant 1 31
737 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
738 c PRX051 Peroxisome Biogenesis Disorder 6a 31
739 NPH001 Nephrogenic Adenoma 31
740 c PRX057 Peroxisome Biogenesis Disorder 4a 30
741 c MCK034 Meckel Syndrome, Type 8 30
742 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
743 c JBR014 Joubert Syndrome 9 30
744 c SPS013 Spastic Paraplegia 8 30
745 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
746 FRC005 Fructosuria, Essential 30
747 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 30
748 c PRX065 Peroxisome Biogenesis Disorder 3a 30
749 c PRX054 Peroxisome Biogenesis Disorder 12a 30
750 P VNM004 Van Maldergem Syndrome 30
751 c JBR026 Joubert Syndrome 15 30
752 EPD025 Epidermolysis Bullosa with Pyloric Atresia 30
753 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
754 c JBR042 Joubert Syndrome 23 29
755 BLD045 Bladder Diverticulum 29
756 c JBR031 Joubert Syndrome 21 29
757 c PRX063 Peroxisome Biogenesis Disorder 2a 29
758 c INF147 Infantile Nephronophthisis 29
759 c SPS091 Spastic Paraplegia 4 29
760 c CTR181 Cataract 18 29
761 c PRX056 Peroxisome Biogenesis Disorder 11b 29
762 c PRX050 Peroxisome Biogenesis Disorder 9b 29
763 c CTR095 Cataract 8, Multiple Types 29
764 c PRX055 Peroxisome Biogenesis Disorder 11a 29
765 RNL021 Renal Tubular Transport Disease 28
766 c JBR013 Joubert Syndrome 8 28
767 c JBR016 Joubert Syndrome 10 28
768 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 28
769 c NPH096 Nephrotic Syndrome, Type 12 28
770 c CTR175 Cataract 24 28
771 c CTR166 Cataract 33, Multiple Types 28
772 c PRX043 Peroxisome Biogenesis Disorder 6b 28
773 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
774 KDN001 Kidney Cortex Necrosis 28
775 c CTR113 Cataract 11, Multiple Types 28
776 c SPS039 Spastic Paraplegia 5a 28
777 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
778 c MLG003 Malignant Renovascular Hypertension 28
779 c PRX048 Peroxisome Biogenesis Disorder 10a 28
780 KDN006 Kidney Papillary Necrosis 28
781 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
782 c PRX046 Peroxisome Biogenesis Disorder 7a 27
783 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
784 c PRX053 Peroxisome Biogenesis Disorder 14b 27
785 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
786 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
787 c CTR158 Cataract 37 27
788 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 27
789 c OST120 Osteopetrosis, Autosomal Recessive 5 27
790 c JBR039 Joubert Syndrome 28 27
791 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
792 c OST137 Osteopetrosis, Autosomal Recessive 4 27
793 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
794 c VNM002 Van Maldergem Syndrome 2 27
795 c NPH076 Nephrotic Syndrome, Type 10 27
796 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
797 c CHR087 Chronic Cystitis 26
798 c PRX047 Peroxisome Biogenesis Disorder 5b 26
799 c PRX058 Peroxisome Biogenesis Disorder 4b 26
800 BLD041 Bladder Calculus 26
801 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
802 c JBR030 Joubert Syndrome 22 26
803 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
804 P SPS012 Spastic Paraplegia 3a 26
805 STN013 Stenotrophomonas Maltophilia Infection 26
806 c SPS041 Spastic Paraplegia 6 26
807 c CTR180 Cataract 22, Multiple Types 26
808 c NPH102 Nephrotic Syndrome, Type 14 26
809 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
810 c JBR018 Joubert Syndrome 4 26
811 c SNR004 Senior-Loken Syndrome 4 26
812 c PRX052 Peroxisome Biogenesis Disorder 13a 25
813 c PRX091 Peroxisome Biogenesis Disorder 8a 25
814 FBR085 Fibrillary Glomerulonephritis 25
815 c CTR116 Cataract 15, Multiple Types 25
816 c INF138 Infantile Liver Failure Syndrome 2 25
817 c HML035 Hemolytic Uremic Syndrome, Atypical 2 25
818 c FML270 Familial Cold Autoinflammatory Syndrome 4 25
819 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
820 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
821 c PSD068 Pseudohypoaldosteronism, Type Iic 25
822 c JBR027 Joubert Syndrome 16 25
823 c JBR021 Joubert Syndrome 18 25
824 c JBR043 Joubert Syndrome 32 25
825 c PRX066 Peroxisome Biogenesis Disorder 3b 25
826 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
827 c JBR035 Joubert Syndrome 24 25
828 c NPH074 Nephrotic Syndrome, Type 9 25
829 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
830 c NPH073 Nephrotic Syndrome, Type 8 24
831 c JBR040 Joubert Syndrome 30 24
832 c JBR045 Joubert Syndrome 33 24
833 c CTR131 Cataract 17, Multiple Types 24
834 IMP003 Impaired Renal Function Disease 24
835 c PRX062 Peroxisome Biogenesis Disorder 8b 24
836 c CTR182 Cataract 23, Multiple Types 24
837 c CTR111 Cataract 36 24
838 c JBR037 Joubert Syndrome 26 24
839 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 24
840 c CTR124 Cataract 10, Multiple Types 24
841 c CTR165 Cataract 19, Multiple Types 24
842 HYP344 Hyperthyroidism, Familial Gestational 24
843 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
844 c NPH103 Nephrotic Syndrome, Type 15 24
845 c NPH095 Nephrotic Syndrome, Type 11 24
846 c CTR105 Cataract 12, Multiple Types 24
847 EPT005 Epithelial Predominant Wilms' Tumor 24
848 NPH006 Nephrogenic Adenofibroma 24
849 c NPH105 Nephrotic Syndrome, Type 17 24
850 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
851 c SPS027 Spastic Paraplegia 17 24
852 SCN001 Secondary Hyperparathyroidism of Renal Origin 23
853 c HML032 Hemolytic Uremic Syndrome, Atypical 4 23
854 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
855 c SNR007 Senior-Loken Syndrome 7 23
856 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
857 c CTR136 Cataract 41 23
858 c CTR110 Cataract 26, Multiple Types 23
859 c OST106 Osteopetrosis, Autosomal Recessive 8 23
860 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
861 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 23
862 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
863 c FCL085 Focal Segmental Glomerulosclerosis 7 23
864 c CTR183 Cataract 38 23
865 ARD001 Aredyld 23
866 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
867 P PRX064 Peroxisome Biogenesis Disorder 2b 23
868 c PRX068 Peroxisome Biogenesis Disorder 7b 23
869 c HML036 Hemolytic Uremic Syndrome, Atypical 6 23
870 c JBR028 Joubert Syndrome 13 23
871 c JBR047 Joubert Syndrome 35 23
872 URM001 Uremic Neuropathy 23
873 c CTR125 Cataract 7 23
874 c SPS020 Spastic Paraplegia 1 22
875 AXL004 Axial Mesodermal Dysplasia Spectrum 22
876 MXD010 Mixed Epithelial Stromal Tumour 22
877 c CTR162 Cataract 47 22
878 c CTR169 Cataract 29 22
879 c JBR038 Joubert Syndrome 27 22
880 c CTR184 Cataract 39, Multiple Types 22
881 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
882 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 22
883 NRF010 Neurofaciodigitorenal Syndrome 22
884 c JBR044 Joubert Syndrome 31 22
885 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
886 c SPS042 Spastic Paraplegia 9 22
887 c CTR187 Cataract 48 22
888 FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 22
889 c NPH106 Nephrotic Syndrome, Type 18 21
890 c CTR163 Cataract 46, Juvenile-Onset 21
891 c PRM200 Primary Fanconi Syndrome 21
892 c SPS023 Spastic Paraplegia 13 21
893 c OST171 Osteopetrosis, Autosomal Dominant 3 21
894 c MCK036 Meckel Syndrome, Type 9 21
895 c HRD186 Hereditary Spastic Paraplegia 51 20
896 DPL007 Duplication of Urethra 20
897 c NPH104 Nephrotic Syndrome, Type 16 20
898 c CTR119 Cataract 32, Multiple Types 20
899 c CTR144 Cataract 43 20
900 BLT024 Bilateral Renal Aplasia 20
901 RNL005 Renal Wilms' Tumor 20
902 c CTR159 Cataract 35 20
903 c NPH107 Nephrotic Syndrome, Type 19 20
904 BLD030 Bladder Tuberculosis 20
905 c CTR097 Cataract 34, Multiple Types 20
906 c CTR185 Cataract 30 20
907 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 20
908 c PRX089 Peroxisome Biogenesis Disorder 10b 20
909 c CTR106 Cataract 20, Multiple Types 20
910 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
911 ESN013 Eosinophilic Cystitis 20
912 c CTR139 Cataract 42 20
913 c HYP712 Hypercalcemia, Infantile, 2 20
914 c SPS037 Spastic Paraplegia 31 20
915 HVY003 Heavy Chain Deposition Disease 19
916 c CTR160 Cataract 45 19
917 c NPH093 Nephrotic Syndrome, Type 13 19
918 c SPS038 Spastic Paraplegia 39 19
919 c CTR121 Cataract 25 19
920 OCL073 Oculoskeletodental Syndrome 19
921 c HRD188 Hereditary Spastic Paraplegia 72 19
922 c SPS022 Spastic Paraplegia 12 19
923 c SPS028 Spastic Paraplegia 18 18
924 c AHM002 Ah Amyloidosis 18
925 c NNN029 Noonan Syndrome 11 18
926 c CTR178 Cataract 27 18
927 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 18
928 c CTR157 Cataract 28 18
929 c SPS034 Spastic Paraplegia 26 18
930 RRC029 Rare Cause of Hypertension 17
931 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 17
932 c CTR128 Cataract 33 17
933 IGG011 Igg4-Related Kidney Disease 17
934 KDN014 Kidney Leiomyosarcoma 16
935 DYS180 Dyschondrosteosis and Nephritis 16
936 LWR004 Lower Urinary Tract Calculus 16
937 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 16
938 THY105 Thyrocerebroretinal Syndrome 15
939 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
940 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 15
941 c HYP809 Hypercalciuria, Absorptive, 1 15
942 c SPS032 Spastic Paraplegia 24 15
943 c HRD210 Hereditary Spastic Paraplegia 23 14
944 SNR014 Senior-Boichis Syndrome 14
945 LGH014 Light and Heavy Chain Deposition Disease 14
946 c SPS029 Spastic Paraplegia 19 14
947 URC012 Urachal Sinus 14
948 URC013 Urachal Diverticulum 13
949 APV001 Aapoaiv Amyloidosis 13
950 P ANT062 Anterior Urethral Valve 13
951 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
952 c SPS035 Spastic Paraplegia 29 13
953 c SPS161 Spastic Paraplegia 32 13
954 P SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 13
955 c SCN053 Secondary Glomerular Disease 13
956 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 13
957 c SPS033 Spastic Paraplegia 25 13
958 URT019 Urethral Gland Abscess 12
959 c SPS080 Spastic Paraplegia 51 12
960 c SPS024 Spastic Paraplegia 14 12
961 STR009 Stromal Predominant Kidney Wilms' Tumor 12
962 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
963 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
964 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
965 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
966 c SPS165 Spastic Paraplegia 47 12
967 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
968 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
969 c CNG590 Congenital and Infantile Nephrotic Syndrome 12
970 c RNL016 Renal Infectious Disease 12
971 SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 11
972 c SPS230 Spastic Paraplegia Type 49 11
973 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
974 c PRM152 Primary Renal Tubular Acidosis 11
975 c SPS026 Spastic Paraplegia 16 11
976 P CNG326 Congenital Primary Megaureter 11
977 c CTR025 Cataract, Total Congenital 11
978 P ATY049 Atypical Hemolytic Uremic Syndrome with C3 Anomaly 10
979 KDN005 Kidney Liposarcoma 10
980 ATY044 Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly 10
981 PCM003 Pauci-Immune Glomerulonephritis Without Anca 10
982 c PLY176 Polycystic Kidney Disease 4 9
983 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 9
984 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 8
985 c SPS040 Spastic Paraplegia 5b 7
986 c KDN012 Kidney Carcinoma in Situ 7
987 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 6
988 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 6
989 MTC002 Metachronous Kidney Wilms' Tumor 5
990 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
991 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 5
992 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
993 RNL020 Renal Pelvis Urothelial Papilloma 5
994 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
995 CNG580 Congenital Disorder of Glycosylation with Nephropathy As a Major Feature 4
996 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
997 c CTR008 Cataract Congenital Autosomal Dominant 4
998 BNG089 Benign Metanephric Tumour 4
999 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
1000 c FML358 Familial Cystic Renal Disease 3
1001 ATH002 Atheroembolism of Kidney 3
1002 P MLN066 Melanoma, Cutaneous Malignant 1 69
1003 c MLN043 Melanoma, Cutaneous Malignant 8 34
1004 c MLN067 Melanoma, Cutaneous Malignant 2 29
1005 c MLN075 Melanoma, Cutaneous Malignant 3 26
1006 c MLN055 Melanoma, Cutaneous Malignant 10 24
1007 c MLN076 Melanoma, Cutaneous Malignant 5 24
1008 c MLN077 Melanoma, Cutaneous Malignant 9 22
1009 c MLN042 Melanoma, Cutaneous Malignant 6 21
1010 c MLN074 Melanoma, Cutaneous Malignant 4 20
1011 c MLN040 Melanoma, Cutaneous Malignant 7 19
1012 OBS373 Obsolete: Renal Cell Carcinoma Associated with Neuroblastoma 7
1013 3MC003 3mc Syndrome 44
1014 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 64
1015 P SHR029 Short Syndrome 56
1016 P AMY084 Amyloidosis, Finnish Type 53
1017 HYD061 Hydrocephalus, Normal-Pressure 49
1018 SLR001 Sialuria 48
1019 c SHR030 Short Qt Syndrome 47
1020 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 44
1021 P SPS133 Spastic Paraplegia 2, X-Linked 44
1022 c FML294 Familial Short Qt Syndrome 41
1023 c SHR032 Short Qt Syndrome 2 29
1024 c SHR033 Short Qt Syndrome 3 28
1025 c SHR031 Short Qt Syndrome 1 28
1026 c FML249 Familial Amyloidosis, Finnish Type 21
1027 c SPS198 Spastic Paraplegia 16, X-Linked 21
1028 c SPS062 Spastic Paraplegia 34, X-Linked 20
1029 BLD018 Bladder Hepatoid Adenocarcinoma 7
1030 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 7
1031 OBS109 Obsolete: Familial Renal Cell Carcinoma 3
1032 c SYS001 Systemic Lupus Erythematosus 88
1033 RNL114 Renal Cell Carcinoma, Nonpapillary 79
1034 P NRF023 Neurofibromatosis, Type Ii 77
1035 c NRF024 Neurofibromatosis, Type I 72
1036 P TMP003 Temporal Arteritis 68
1037 NPH091 Nephrolithiasis, Calcium Oxalate 66
1038 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1039 P ALP004 Alport Syndrome 66
1040 P BRD002 Bardet-Biedl Syndrome 66
1041 CYS013 Cystinuria 66
1042 P LPS004 Lupus Erythematosus 62
1043 P PLV020 Pelvic Organ Prolapse 61
1044 c BRD010 Bardet-Biedl Syndrome 1 61
1045 P PRM002 Primary Hyperoxaluria 60
1046 P CRN108 Cranioectodermal Dysplasia 1 60
1047 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 59
1048 c PRT132 Protoporphyria, Erythropoietic, 1 59
1049 ADL030 Adult-Onset Still's Disease 59
1050 P GLM007 Glomerulonephritis 58
1051 BLR008 Bilirubin Metabolic Disorder 58
1052 c HYP731 Hyperaldosteronism, Familial, Type I 57
1053 c BRD014 Bardet-Biedl Syndrome 2 56
1054 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 56
1055 P BRT004 Bartter Disease 56
1056 P ALP106 Alport Syndrome 1, X-Linked 55
1057 HMR004 Hemorrhagic Fever with Renal Syndrome 54
1058 CLR030 Clear Cell Renal Cell Carcinoma 54
1059 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52
1060 NPH003 Nephrocalcinosis 52
1061 MCR088 Microscopic Polyangiitis 51
1062 P RBN002 Robinow Syndrome 51
1063 c XNT010 Xanthinuria, Type I 51
1064 VTR016 Vater/vacterl Association 51
1065 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
1066 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 51
1067 c AMY009 Amyloidosis Aa 50
1068 BLD044 Bladder Disease 50
1069 IGG001 Iga Glomerulonephritis 50
1070 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 49
1071 HMG002 Hemoglobinuria 49
1072 FRS002 Frasier Syndrome 49
1073 RLP001 Relapsing Polychondritis 49
1074 HPT014 Hepatorenal Syndrome 49
1075 CKT002 Cakut 48
1076 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1077 LPD004 Lipoid Nephrosis 48
1078 LMT001 Limited Scleroderma 48
1079 GLC106 Glucocorticoid Resistance, Generalized 48
1080 HRT031 Hartnup Disorder 47
1081 c RBN022 Robinow Syndrome, Autosomal Recessive 1 47
1082 P SMP003 Simpson-Golabi-Behmel Syndrome 47
1083 P RNL015 Renal Hypertension 47
1084 c FCL025 Focal Segmental Glomerulosclerosis 1 47
1085 c MCK032 Meckel Syndrome, Type 3 47
1086 P RPD001 Rapidly Progressive Glomerulonephritis 46
1087 P PRP056 Porphyria, Acute Hepatic 46
1088 HLX001 Helix Syndrome 46
1089 TRC003 Trichomoniasis 46
1090 NPH010 Nephrosclerosis 46
1091 KDN015 Kidney Angiomyolipoma 46
1092 c ALP104 Alport Syndrome 3, Autosomal Dominant 46
1093 c PSD092 Pseudohypoaldosteronism, Type Iie 45
1094 EXS017 Exstrophy of Bladder 45
1095 MSN001 Mesangial Proliferative Glomerulonephritis 45
1096 c BRD044 Bardet-Biedl Syndrome 17 45
1097 c BRD018 Bardet-Biedl Syndrome 6 45
1098 c BRD015 Bardet-Biedl Syndrome 3 45
1099 PDT035 Pediatric Systemic Lupus Erythematosus 45
1100 c BRD020 Bardet-Biedl Syndrome 8 45
1101 c BRD033 Bardet-Biedl Syndrome 13 44
1102 LPP002 Lipoprotein Glomerulopathy 44
1103 ONC003 Oncogenic Osteomalacia 44
1104 BNS003 Binswanger's Disease 43
1105 HYP550 Hypomagnesemia 1, Intestinal 43
1106 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 43
1107 c BRD011 Bardet-Biedl Syndrome 10 43
1108 MDL009 Medullary Sponge Kidney 42
1109 c RBN018 Robinow Syndrome, Autosomal Dominant 1 42
1110 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 42
1111 c BRD017 Bardet-Biedl Syndrome 5 42
1112 BP1002 Bap1 Tumor Predisposition Syndrome 41
1113 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 41
1114 P FML156 Familial Hyperaldosteronism 41
1115 c RBN017 Robinow Syndrome, Autosomal Dominant 2 41
1116 INT258 Interstitial Nephritis, Karyomegalic 40
1117 PRM237 Primary Hypomagnesemia 40
1118 C3G002 C3 Glomerulopathy 40
1119 c BRD048 Bardet-Biedl Syndrome 18 40
1120 c BRD035 Bardet-Biedl Syndrome 15 39
1121 c ATS082 Autosomal Dominant Robinow Syndrome 39
1122 c SYS043 Systemic Lupus Erythematosus 1 39
1123 P ACR062 Acroosteolysis 38
1124 c HYP603 Hyperoxaluria, Primary, Type Iii 38
1125 c ATM045 Autoimmune Glomerulonephritis 38
1126 CHL010 Childhood Kidney Cell Carcinoma 38
1127 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
1128 c DNT021 Dent Disease 2 37
1129 MLN011 Malonyl-Coa Decarboxylase Deficiency 37
1130 c ACR044 Acroosteolysis Dominant Type 37
1131 c BRD019 Bardet-Biedl Syndrome 7 37
1132 c XNT011 Xanthinuria, Type Ii 36
1133 RNL012 Renal Tuberculosis 36
1134 c SYS061 Systemic Lupus Erythematosus 16 36
1135 c TYP024 Type Ii Mixed Cryoglobulinemia 36
1136 c RBN020 Robinow Syndrome, Autosomal Dominant 3 36
1137 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 35
1138 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 34
1139 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 34
1140 P GLM015 Glomerulopathy with Fibronectin Deposits 2 34
1141 P MDL008 Medullary Cystic Kidney Disease 1 34
1142 OLG021 Oligomeganephronia 34
1143 c RNL113 Renal Failure, Progressive, with Hypertension 34
1144 c BRD045 Bardet-Biedl Syndrome 19 33
1145 MTH077 Methylmalonic Aciduria, Cbla Type 33
1146 c CRN109 Cranioectodermal Dysplasia 2 33
1147 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1148 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1149 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 32
1150 KDN002 Kidney Rhabdoid Cancer 32
1151 c BRD021 Bardet-Biedl Syndrome 9 32
1152 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
1153 P RNL115 Renal Tubular Acidosis, Proximal 31
1154 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1155 PDN001 Pudendal Neuralgia 31
1156 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
1157 c PRP091 Porphyria Cutanea Tarda, Type I 31
1158 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1159 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
1160 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 30
1161 PCM002 Pauci-Immune Glomerulonephritis 30
1162 c PSD093 Pseudohypoaldosteronism, Type Iid 30
1163 CTN019 Cutaneous Polyarteritis Nodosa 29
1164 MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28
1165 KDN016 Kidney Benign Neoplasm 28
1166 c JVN019 Juvenile Temporal Arteritis 28
1167 c SYS066 Systemic Polyarteritis Nodosa 27
1168 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 27
1169 c BRD050 Bardet-Biedl Syndrome 21 27
1170 GLN006 Glandular Cystitis 26
1171 P RNL123 Renal Agenesis, Bilateral 26
1172 c FCL028 Focal Segmental Glomerulosclerosis 5 26
1173 c BRT024 Bartter Syndrome Type 4 26
1174 c FCL082 Focal Segmental Glomerulosclerosis 4 26
1175 HYP481 Hyperbiliverdinemia 26
1176 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 26
1177 c FCL043 Focal Segmental Glomerulosclerosis 6 26
1178 IMM053 Immunotactoid Glomerulopathy 25
1179 c FCL026 Focal Segmental Glomerulosclerosis 2 25
1180 3HY001 3-Hydroxyisobutyric Aciduria 25
1181 CLR112 Clear Cell Papillary Renal Cell Carcinoma 25
1182 c JBR036 Joubert Syndrome 25 25
1183 c SYS038 Systemic Lupus Erythematosus 2 25
1184 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 25
1185 URC004 Urachal Cancer 25
1186 P TTR028 Tetraamelia Syndrome 1 24
1187 c BRD051 Bardet-Biedl Syndrome 20 23
1188 PLY179 Polyomavirus-Associated Nephropathy 23
1189 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 22
1190 c SYS040 Systemic Lupus Erythematosus 10 22
1191 c SYS046 Systemic Lupus Erythematosus 3 21
1192 c SYS053 Systemic Lupus Erythematosus 5 21
1193 c MLG004 Malignant Hypertensive Renal Disease 21
1194 BLT020 Bilateral Multicystic Dysplastic Kidney 21
1195 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 21
1196 c SYS069 Systemic Lupus Erythematosus 6 21
1197 c SYS051 Systemic Lupus Erythematosus 4 20
1198 ATR053 Atresia of Urethra 20
1199 c SYS041 Systemic Lupus Erythematosus 9 20
1200 c TTR029 Tetraamelia Syndrome 2 20
1201 c GLM014 Glomerulopathy with Fibronectin Deposits 1 19
1202 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
1203 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
1204 c FML028 Familial Renal Oncocytoma 19
1205 NLP003 Nail-Patella-Like Renal Disease 19
1206 UNL014 Unilateral Multicystic Dysplastic Kidney 18
1207 RNL019 Renal Pelvis Transitional Cell Carcinoma 18
1208 PHS019 Phosphohydroxylysinuria 18
1209 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 18
1210 c SYS065 Systemic Lupus Erythematosus 11 18
1211 c PRT135 Protoporphyria, Erythropoietic, 2 18
1212 KDN004 Kidney Hemangiopericytoma 17
1213 VLN001 Valinemia 17
1214 c SYS055 Systemic Lupus Erythematosus 12 16
1215 c SYS048 Systemic Lupus Erythematosus 8 16
1216 c SYS052 Systemic Lupus Erythematosus 13 16
1217 c RBN023 Robinow Syndrome, Autosomal Recessive 2 16
1218 CNG330 Congenital Megacalycosis 15
1219 RRR010 Rare Renal Tumor 15
1220 c SYS047 Systemic Lupus Erythematosus 7 15
1221 INF059 Infundibulopelvic Dysgenesis 15
1222 RNL109 Renal Hypoplasia, Bilateral 15
1223 MLT112 Multiloculated Renal Cyst 14
1224 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1225 KDN008 Kidney Pelvis Papillary Carcinoma 14
1226 c SYS045 Systemic Lupus Erythematosus 14 13
1227 BLS005 Blastema Predominant Kidney Wilms' Tumor 13
1228 GRH002 Graham Boyle Troxell Syndrome 13
1229 GNR029 Generalized Galactose Epimerase Deficiency 13
1230 c SYS067 Systemic Lupus Erythematosus 15 13
1231 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 13
1232 NPH008 Nephrogenic Adenoma of the Urethra 13
1233 c PLV014 Pelvic Organ Prolapse 2 12
1234 c ATY051 Atypical Hemolytic Uremic Syndrome with I Factor Anomaly 12
1235 MGC005 Megacystis-Megaureter Syndrome 11
1236 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1237 MXD009 Mixed Cell Type Kidney Wilms' Tumor 11
1238 c LTN020 Late-Onset Nephronophthisis 11
1239 RNL107 Renal Dysplasia, Bilateral 10
1240 CHL044 Childhood Kidney Angiomyolipoma 10
1241 c RRP004 Rare Primary Hyperaldosteronism 10
1242 CNG337 Congenital Renal Artery Stenosis 9
1243 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
1244 RNL010 Renal Pelvis Inverted Papilloma 9
1245 ATY050 Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly 9
1246 P ATY047 Atypical Hemolytic Uremic Syndrome with B Factor Anomaly 9
1247 P BNG003 Benign Hypertensive Renal Disease 9
1248 c MLG055 Malignant Cystic Nephroma 9
1249 RNL108 Renal Hypoplasia, Unilateral 8
1250 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1251 DCT001 Dioctophymiasis 8
1252 P JVN036 Juvenile Sialidosis Type 2 7
1253 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 7
1254 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1255 CLS004 Classic Congenital Mesoblastic Nephroma 5
1256 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1257 RRR011 Rare Renal Tubular Disease 5
1258 CNG583 Congenital Urachal Anomaly 5
1259 SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
1260 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 5
1261 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1262 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
1263 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1264 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1265 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1266 c PRM147 Primary Megaureter, Adult-Onset Form 4
1267 SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
1268 CNG331 Congenital Bilateral Megacalycosis 4
1269 INH026 Inherited Renal Cancer-Predisposing Syndrome 3
1270 URN009 Urinary System Disease 52
1271 VSC006 Vascular Cancer 52
1272 PRT010 Parathyroid Carcinoma 67
1273 GLT007 Glutathione Synthetase Deficiency 47
1274 RNL065 Renal Cell Carcinoma, Papillary, 1 75
1275 c TBR025 Tuberous Sclerosis 1 74
1276 c BTT014 Beta-Thalassemia 73
1277 P TBR001 Tuberous Sclerosis 72
1278 P AMY004 Amyloidosis 71
1279 c TBR026 Tuberous Sclerosis 2 69
1280 c CHR684 Chronic Kidney Disease 68
1281 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
1282 P TRN020 Turner Syndrome 66
1283 P CHR071 Charcot-Marie-Tooth Disease 65
1284 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64
1285 LWC002 Lowe Oculocerebrorenal Syndrome 63
1286 c ALP101 Alpha-Thalassemia 63
1287 P FCL005 Focal Segmental Glomerulosclerosis 63
1288 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
1289 P THL005 Thalassemia 62
1290 GTL001 Gitelman Syndrome 62
1291 P INT143 Interstitial Cystitis 62
1292 P KDN017 Kidney Cancer 60
1293 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60
1294 P NPH005 Nephronophthisis 60
1295 RNL024 Renal Glucosuria 59
1296 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1297 P PRP029 Porphyria 58
1298 c ORF040 Orofaciodigital Syndrome Viii 56
1299 VRG001 Variegate Porphyria 55
1300 P SNR003 Senior-Loken Syndrome 1 55
1301 c RBN021 Rubinstein-Taybi Syndrome 1 55
1302 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 54
1303 CYS036 Cystinosis, Nephropathic 53
1304 P ORF001 Orofaciodigital Syndrome 53
1305 c ORF034 Orofaciodigital Syndrome Vi 52
1306 P PLY017 Polyarteritis Nodosa 52
1307 P GNT009 Giant Axonal Neuropathy 52
1308 RNL078 Renal Dysplasia 51
1309 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
1310 P D2H002 D-2-Hydroxyglutaric Aciduria 1 50
1311 MYL003 Myeloid Sarcoma 50
1312 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1313 c ACT078 Acute Porphyria 49
1314 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1315 PPL048 Papillorenal Syndrome 49
1316 RNL011 Renal Osteodystrophy 49
1317 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 49
1318 CLL002 Collecting Duct Carcinoma 48
1319 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
1320 c HYP794 Hyperoxaluria, Primary, Type I 48
1321 P TRN034 Transverse Myelitis 48
1322 c HRD039 Hereditary Amyloidosis 46
1323 RYN003 Reynolds Syndrome 46
1324 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 45
1325 P DST107 Distal Renal Tubular Acidosis 45
1326 HND004 Hand-Foot-Genital Syndrome 44
1327 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 44
1328 CTY001 Cat Eye Syndrome 43
1329 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 43
1330 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 43
1331 P HYP761 Hypouricemia, Renal, 1 43
1332 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 43
1333 P HYP210 Hypomagnesemia 2, Renal 43
1334 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 42
1335 ARC002 Arachnoiditis 42
1336 c CNG029 Congenital Mesoblastic Nephroma 42
1337 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
1338 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 40
1339 SCH037 Schinzel-Giedion Midface Retraction Syndrome 40
1340 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 40
1341 c ACT159 Acute Transverse Myelitis 40
1342 c 2HY001 2-Hydroxyglutaric Aciduria 40
1343 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 40
1344 c HYP602 Hyperoxaluria, Primary, Type Ii 39
1345 CDQ001 Cauda Equina Syndrome 39
1346 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 39
1347 SRC002 Sarcomatoid Renal Cell Carcinoma 39
1348 RNL018 Renal Pelvis Carcinoma 38
1349 RHY001 Rhyns Syndrome 37
1350 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 37
1351 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
1352 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
1353 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 37
1354 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
1355 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
1356 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 36
1357 c ORF035 Orofaciodigital Syndrome Iv 36
1358 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
1359 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 36
1360 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 36
1361 CFH006 Cfhr5 Deficiency 36
1362 c JVN041 Juvenile Nephronophthisis 35
1363 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
1364 NRS001 Neuroschistosomiasis 34
1365 PLY158 Polyglucosan Body Neuropathy, Adult Form 33
1366 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1367 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
1368 P BTR001 Botryoid Rhabdomyosarcoma 33
1369 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 32
1370 c ORF038 Orofaciodigital Syndrome Iii 32
1371 c ORF033 Orofaciodigital Syndrome V 32
1372 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 31
1373 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
1374 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1375 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 30
1376 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30
1377 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 29
1378 JBR007 Joubert Syndrome with Renal Anomalies 29
1379 KDN019 Kidney Sarcoma 28
1380 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 28
1381 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 28
1382 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 28
1383 c ORF036 Orofaciodigital Syndrome Xiv 28
1384 RNL039 Renal Dysplasia-Limb Defects Syndrome 27
1385 c ORF043 Orofaciodigital Syndrome Ix 27
1386 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
1387 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 27
1388 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 27
1389 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1390 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
1391 c SPS092 Spastic Paraplegia 11 26
1392 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
1393 c ORF046 Orofaciodigital Syndrome Xvi 26
1394 c FML269 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 25
1395 c CHR135 Charcot-Marie-Tooth Disease Type 2a 25
1396 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 25
1397 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
1398 c ORF042 Orofaciodigital Syndrome Xi 24
1399 SDH011 Sedoheptulokinase Deficiency 24
1400 RNL004 Renal Pelvis Adenocarcinoma 24
1401 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
1402 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
1403 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 24
1404 c CHR139 Charcot-Marie-Tooth Disease Type 2c 23
1405 STN006 Steinfeld Syndrome 23
1406 c ORF052 Orofaciodigital Syndrome Xviii 23
1407 c D2H003 D-2-Hydroxyglutaric Aciduria 2 23
1408 RNL089 Renal Nutcracker Syndrome 23
1409 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
1410 c ORF041 Orofaciodigital Syndrome X 22
1411 c ORF051 Orofaciodigital Syndrome Xvii 22
1412 c PSD047 Pseudo-Turner Syndrome 22
1413 THV001 Thauvin-Robinet-Faivre Syndrome 21
1414 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 21
1415 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
1416 c ORF045 Orofaciodigital Syndrome Xv 21
1417 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1418 c CHR026 Charcot-Marie-Tooth Disease Type X 20
1419 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
1420 c SNR011 Senior-Loken Syndrome 3 19
1421 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 19
1422 c PRM150 Primary Localized Amyloidosis 19
1423 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
1424 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 19
1425 CRM007 Crome Syndrome 19
1426 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
1427 BRK013 Birk-Landau-Perez Syndrome 18
1428 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
1429 c CHR550 Charcot-Marie-Tooth Disease Type 2n 17
1430 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 17
1431 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 16
1432 APM002 Aapoai Amyloidosis 16
1433 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
1434 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 14
1435 c ORF039 Orofaciodigital Syndrome Vii 14
1436 TBL026 Tubulocystic Renal Cell Carcinoma 13
1437 KDN010 Kidney Osteogenic Sarcoma 13
1438 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1439 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
1440 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 13
1441 c ORF006 Orofaciodigital Syndrome 13 12
1442 c ORF005 Orofaciodigital Syndrome 12 12
1443 c CHR143 Charcot-Marie-Tooth Disease Type 2g 11
1444 c GNT045 Giant Axonal Neuropathy 2 11
1445 c CHR571 Charcot-Marie-Tooth Disease Type 5 11
1446 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 11
1447 c CHR551 Charcot-Marie-Tooth Disease Type 2o 9
1448 c CHR553 Charcot-Marie-Tooth Disease Type 2q 9
1449 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 9
1450 RNL106 Renal Dysplasia, Unilateral 9
1451 SNG013 Single-Organ Polyarteritis Nodosa 8
1452 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
1453 c ALP107 Alpha-Thalassemia and Related Diseases 7
1454 c CNG348 Congenital Sialidosis Type 2 7
1455 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
1456 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
1457 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 7
1458 HRD003 Hereditary Conventional Renal Cell Carcinoma 7
1459 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1460 P RBN007 Rubinstein Taybi Like Syndrome 6
1461 c SCN040 Secondary Acute Transverse Myelitis 6
1462 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
1463 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
1464 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
1465 c BTT015 Beta-Thalassemia and Related Diseases 5
1466 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
1467 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 4
1468 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 4
1469 FML356 Familial Primary Hypomagnesemia with Normocalcuria 4
1470 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1471 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1472 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
1473 HMT022 Hematological Disorder with Renal Involvement 3
1474 c FNC027 Fanconi Anemia, Complementation Group a 81
1475 P ALG028 Alagille Syndrome 1 70
1476 BHC003 Behcet Syndrome 70
1477 ADR054 Adrenocortical Carcinoma, Hereditary 68
1478 SMT004 Smith-Lemli-Opitz Syndrome 67
1479 P PSD087 Pseudoxanthoma Elasticum 67
1480 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 65
1481 c FNC043 Fanconi Anemia, Complementation Group E 64
1482 PRP083 Porphyria, Acute Intermittent 62
1483 CHR103 Charge Syndrome 62
1484 ELL001 Ellis-Van Creveld Syndrome 62
1485 P DRM010 Dermatomyositis 62
1486 P MCH002 Machado-Joseph Disease 61
1487 TKY002 Takayasu Arteritis 61
1488 P RNL100 Renal Hypodysplasia/aplasia 1 61
1489 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1490 P DNT020 Dent Disease 1 60
1491 P INT070 Intestinal Obstruction 60
1492 CHR177 Chromophobe Renal Cell Carcinoma 58
1493 BRG013 Buerger Disease 58
1494 P PLY041 Polymyositis 57
1495 CPR004 Coproporphyria, Hereditary 57
1496 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57
1497 c FNC042 Fanconi Anemia, Complementation Group D2 56
1498 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 56
1499 P FNC044 Fanconi Anemia, Complementation Group C 56
1500 c INT072 Intestinal Pseudo-Obstruction 55
1501 GRN034 Grange Syndrome 55
1502 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 55
1503 c FRS014 Fraser Syndrome 1 55
1504 CNN011 Cenani-Lenz Syndactyly Syndrome 55
1505 MXD005 Mixed Connective Tissue Disease 55
1506 PLY023 Polycystic Liver Disease 55
1507 GDP001 Goodpasture Syndrome 54
1508 RNL051 Renal Cysts and Diabetes Syndrome 54
1509 P HML001 Hemolytic-Uremic Syndrome 54
1510 P MGL001 Megaloblastic Anemia 54
1511 RGH009 Right Atrial Isomerism 52
1512 SCH016 Schimke Immunoosseous Dysplasia 52
1513 FRC011 Fructose Intolerance, Hereditary 52
1514 c FNC025 Fanconi Anemia, Complementation Group J 51
1515 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 50
1516 c FNC029 Fanconi Anemia, Complementation Group I 50
1517 P CRY007 Cryoglobulinemia, Familial Mixed 50
1518 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 49
1519 c MGL018 Megaloblastic Anemia 1 49
1520 SCR020 Sacral Defect with Anterior Meningocele 48
1521 PTS001 Patau Syndrome 48
1522 c FNC024 Fanconi Anemia, Complementation Group D1 48
1523 c FNC045 Fanconi Anemia, Complementation Group F 48
1524 CMP042 Complement Factor H Deficiency 47
1525 P SLL003 Salla Disease 47
1526 c FNC028 Fanconi Anemia, Complementation Group L 47
1527 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1528 c BRT042 Bartter Syndrome, Type 3 46
1529 GLC011 Galactose Epimerase Deficiency 46
1530 c FNC032 Fanconi Anemia, Complementation Group B 45
1531 c FNC030 Fanconi Anemia, Complementation Group G 45
1532 RNL119 Renal Cell Carcinoma, Xp11-Associated 44
1533 P BRN006 Branchiootorenal Syndrome 44
1534 c FNC046 Fanconi Anemia, Complementation Group P 44
1535 c FNC048 Fanconi Anemia, Complementation Group O 44
1536 c RNL122 Renal Hypodysplasia/aplasia 3 43
1537 DNB001 Danubian Endemic Familial Nephropathy 43
1538 LGH004 Light Chain Deposition Disease 43
1539 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 42
1540 KDN007 Kidney Clear Cell Sarcoma 42
1541 FMR004 Fumarase Deficiency 41
1542 c FNC057 Fanconi Anemia, Complementation Group U 41
1543 c FNC023 Fanconi Anemia, Complementation Group N 41
1544 BTR002 Beta-Ureidopropionase Deficiency 41
1545 c VNM003 Van Maldergem Syndrome 1 40
1546 c FNC047 Fanconi Anemia, Complementation Group Q 39
1547 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 39
1548 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
1549 P HYP111 Hyperprolinemia 39
1550 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 39
1551 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
1552 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38
1553 c FNC052 Fanconi Anemia, Complementation Group T 37
1554 c FNC058 Fanconi Anemia, Complementation Group R 35
1555 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1556 OMS001 Omsk Hemorrhagic Fever 34
1557 c BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 34
1558 c FNC062 Fanconi Anemia, Complementation Group S 34
1559 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 34
1560 c FNC056 Fanconi Anemia, Complementation Group V 33
1561 c HYP248 Hyperprolinemia, Type I 31
1562 c ADL027 Adult Dermatomyositis 31
1563 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
1564 PSD119 Pseudohypoparathyroidism with Albright Hereditary Osteodystrophy 31
1565 c HYP597 Hyperprolinemia, Type Ii 31
1566 GLT011 Glutamine Deficiency, Congenital 31
1567 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 30
1568 HYP193 Hypocomplementemic Urticarial Vasculitis 30
1569 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 29
1570 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 28
1571 P HRD020 Hereditary Renal Cell Carcinoma 28
1572 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 28
1573 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 27
1574 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 27
1575 URC005 Urachal Cyst 26
1576 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 26
1577 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 25
1578 c FRS016 Fraser Syndrome 2 25
1579 FML029 Familial Renal Papillary Carcinoma 24
1580 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
1581 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1582 c FNC061 Fanconi Anemia, Complementation Group W 24
1583 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
1584 c FRS015 Fraser Syndrome 3 22
1585 c BRN138 Branchiootorenal Spectrum Disorder 22
1586 c JVN046 Juvenile Polymyositis 20
1587 LGH017 Leigh Syndrome with Nephrotic Syndrome 20
1588 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 19
1589 FTL074 Fetal Lower Urinary Tract Obstruction 18
1590 MSC089 Mosaic Monosomy X 18
1591 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 18
1592 AFB003 Afib Amyloidosis 17
1593 RNL009 Renal Pelvis Squamous Cell Carcinoma 16
1594 APM001 Aapoaii Amyloidosis 16
1595 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 15
1596 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
1597 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1598 c MCH013 Machado-Joseph Disease Type 3 14
1599 c MCH012 Machado-Joseph Disease Type 1 14
1600 c MCH014 Machado-Joseph Disease Type 2 14
1601 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1602 c PRM222 Primary Polyarteritis Nodosa 13
1603 DNT019 Daentl Towsend Siegel Syndrome 13
1604 c INT094 Intermediate Severe Salla Disease 13
1605 P FRS017 Fraser-Like Syndrome 13
1606 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
1607 RNL032 Renal Caliceal Diverticuli Deafness 8
1608 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1609 P LYN001 Lynch Syndrome 77
1610 P HYP802 Hypocalcemia, Autosomal Dominant 1 69
1611 P SYS005 Systemic Scleroderma 68
1612 CHL065 Cholangiocarcinoma 68
1613 c CNG411 Congenital Disorder of Glycosylation, Type in 66
1614 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65
1615 FCT007 Factor Vii Deficiency 65
1616 c RHB024 Rhabdomyosarcoma 2 64
1617 P MCK013 Meckel Syndrome, Type 1 64
1618 P RHB003 Rhabdomyosarcoma 62
1619 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
1620 BRT002 Birt-Hogg-Dube Syndrome 62
1621 GRN037 Granulomatosis with Polyangiitis 62
1622 PLL001 Pallister-Hall Syndrome 62
1623 c SCL052 Scleroderma, Familial Progressive 62
1624 c LYN004 Lynch Syndrome I 61
1625 c LCL006 Localized Scleroderma 61
1626 P LDD007 Liddle Syndrome 1 58
1627 DBN001 Dubin-Johnson Syndrome 58
1628 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57
1629 DNY001 Denys-Drash Syndrome 57
1630 APP015 Apparent Mineralocorticoid Excess 56
1631 P ZLL001 Zellweger Syndrome 56
1632 P URF003 Urofacial Syndrome 1 55
1633 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
1634 c AML044 Amelogenesis Imperfecta, Type Ig 55
1635 PRL032 Perlman Syndrome 54
1636 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1637 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1638 ADN024 Adenine Phosphoribosyltransferase Deficiency 52
1639 c ALM001 Al Amyloidosis 50
1640 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 49
1641 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
1642 P AML002 Amelogenesis Imperfecta 48
1643 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
1644 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1645 ESN020 Eosinophilic Granulomatosis with Polyangiitis 47
1646 PRS055 Pierson Syndrome 46
1647 c ZLL011 Zellweger Spectrum Disorder 43
1648 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 43
1649 c MCK012 Meckel Syndrome, Type 6 43
1650 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
1651 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 42
1652 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
1653 P HRD086 Hereditary Hypophosphatemic Rickets 41
1654 c MCK031 Meckel Syndrome, Type 2 41
1655 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1656 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1657 c CNG002 Congenital Bile Acid Synthesis Defect 40
1658 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1659 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 40
1660 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
1661 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1662 c HYP534 Hypomagnesemia 3, Renal 40
1663 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
1664 c MCK014 Meckel Syndrome, Type 5 38
1665 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
1666 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
1667 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
1668 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1669 KLL014 Kelley-Seegmiller Syndrome 35
1670 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
1671 c AML020 Amelogenesis Imperfecta, Type Iv 35
1672 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
1673 c AML061 Amelogenesis Imperfecta, Type Ie 35
1674 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
1675 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
1676 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
1677 HYP249 Hyperthyroidism, Nonautoimmune 33
1678 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1679 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 33
1680 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
1681 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
1682 c AML057 Amelogenesis Imperfecta, Type Iiia 32
1683 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 32
1684 c AML017 Amelogenesis Imperfecta, Type Ib 32
1685 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1686 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
1687 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1688 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
1689 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
1690 IDP085 Idiopathic Infantile Hypercalcemia 30
1691 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29
1692 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
1693 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1694 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 28
1695 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
1696 c MCK035 Meckel Syndrome, Type 10 28
1697 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1698 c MCK028 Meckel Syndrome 13 28
1699 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 27
1700 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
1701 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1702 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1703 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1704 c AML047 Amelogenesis Imperfecta, Type Ia 25
1705 c MCK026 Meckel Syndrome 12 24
1706 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
1707 c AML048 Amelogenesis Imperfecta, Type Ih 22
1708 c MCK020 Meckel Syndrome, Type 11 22
1709 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1710 c AML018 Amelogenesis Imperfecta, Type Ic 22
1711 c AML059 Amelogenesis Imperfecta, Type Ij 21
1712 c AML050 Amelogenesis Imperfecta, Type if 20
1713 c LDD008 Liddle Syndrome 2 20
1714 P DSR081 Disorder of Bile Acid Synthesis 19
1715 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 19
1716 c LDD009 Liddle Syndrome 3 18
1717 OCL043 Oculorenocerebellar Syndrome 18
1718 c AML064 Amelogenesis Imperfecta, Type Iiic 17
1719 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1720 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 16
1721 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 14
1722 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 10
1723 c AML063 Amelogenesis Imperfecta Type 2a1 10
1724 P DSR041 Disorder of Multiple Glycosylation 6
1725 MYL069 Myeloma, Multiple 85
1726 c WLM013 Wilms Tumor 1 69
1727 P PRP003 Porphyria Cutanea Tarda 66
1728 RHB001 Rhabdoid Cancer 62
1729 c PSD108 Pseudohypoparathyroidism, Type Ia 61
1730 MCK007 Muckle-Wells Syndrome 61
1731 HNC001 Henoch-Schoenlein Purpura 56
1732 P PSD015 Pseudohypoparathyroidism 54
1733 c PSD066 Pseudohypoparathyroidism, Type Ib 51
1734 P OLV001 Olivopontocerebellar Atrophy 48
1735 PRN038 Prune Belly Syndrome 47
1736 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
1737 TRN021 Transaldolase Deficiency 41
1738 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1739 c MCK030 Meckel Syndrome, Type 7 38
1740 GRC001 Gracile Syndrome 38
1741 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1742 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 36
1743 c ALG016 Alagille Syndrome 2 35
1744 c FML324 Familial Porphyria Cutanea Tarda 31
1745 HYP648 Hypertension and Brachydactyly Syndrome 30
1746 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
1747 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
1748 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 17
1749 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 16
1750 c OLV005 Olivopontocerebellar Atrophy V 14
1751 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 11
1752 SCK003 Sickle Cell Anemia 74
1753 P PLR004 Pleuropulmonary Blastoma 68
1754 GLC006 Galactosemia 63
1755 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1756 NRM019 Neuraminidase Deficiency 61
1757 c TYR012 Tyrosinemia, Type I 61
1758 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1759 FNC009 Fanconi-Bickel Syndrome 56
1760 AMY082 Amyloidosis, Familial Visceral 55
1761 NLP001 Nail-Patella Syndrome 54
1762 P TYR004 Tyrosinemia 54
1763 P TWN003 Townes-Brocks Syndrome 53
1764 P RNL028 Renal Tubular Dysgenesis 51
1765 c TYR013 Tyrosinemia, Type Ii 45
1766 c TYR011 Tyrosinemia, Type Iii 41
1767 P GLL032 Galloway-Mowat Syndrome 41
1768 c GLL038 Galloway-Mowat Syndrome 1 40
1769 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1770 VRH001 Verheij Syndrome 36
1771 STR094 Stromme Syndrome 34
1772 c RBN008 Rubinstein-Taybi Syndrome 2 32
1773 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 29
1774 c GLL040 Galloway-Mowat Syndrome 3 28
1775 MCP039 Mucoepithelial Dysplasia, Hereditary 27
1776 c GLL041 Galloway-Mowat Syndrome 4 23
1777 c TWN010 Townes-Brocks Syndrome 2 21
1778 c GLL042 Galloway-Mowat Syndrome 5 21
1779 c PLR018 Pleuropulmonary Blastoma Type 1 10
1780 c PLR020 Pleuropulmonary Blastoma Type 3 8
1781 c PLR019 Pleuropulmonary Blastoma Type 2 7
1782 c GLL043 Galloway-Mowat Syndrome 2 6
1783 P SRC025 Sarcoidosis 1 72
1784 DGR001 Digeorge Syndrome 61
1785 PSD014 Pseudopseudohypoparathyroidism 56
1786 CHL028 Childhood Type Dermatomyositis 55
1787 c SRC023 Sarcoidosis 2 43
1788 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1789 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
1790 c SRC024 Sarcoidosis 3 21
1791 P FML018 Familial Mediterranean Fever 70
1792 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 60
1793 c ORF037 Orofaciodigital Syndrome I 59
1794 c FML344 Familial Mediterranean Fever, Autosomal Dominant 24



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