Nephrological Diseases Category (1273 diseases)


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

# Family MCID Name MIFTS
1 c MPL012 Maple Syrup Urine Disease, Type Ii 54
2 LMY005 Leiomyomatosis and Renal Cell Cancer 56
3 PPL048 Papillorenal Syndrome 51
4 FML076 Familial Juvenile Hyperuricaemic Nephropathy 21
5 DBT088 Diabetes Insipidus, Nephrogenic 58
6 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 43
7 EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 26
8 URN008 Urinary Bladder Cancer 63
9 BLD087 Bladder Cancer, Somatic 53
10 P HYP612 Hypouricemia, Renal 33
11 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 29
12 PRL032 Perlman Syndrome 50
13 BLK001 Balkan Nephropathy 32
14 c NPH055 Nephrotic Syndrome, Type 1 36
15 CNG116 Congenital Nephrotic Syndrome Finnish Type 27
16 SML031 Small Cell Carcinoma of the Bladder 40
17 WLM007 Wilms Tumor Susceptibility-5 55
18 P MMB011 Membranous Nephropathy 50
19 c HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 31
20 P HYP658 Hypoplastic Amelogenesis Imperfecta 26
21 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 11
22 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 9
23 c HYP210 Hypomagnesemia 2, Renal 34
24 P HYP534 Hypomagnesemia 3, Renal 29
25 P DNT015 Dent Disease 61
26 IGG001 Iga Glomerulonephritis 48
27 HMT008 Hematuria, Benign Familial 38
28 c NPH046 Nephrolithiasis, Type I 34
29 RNL024 Renal Glucosuria 50
30 BLD044 Bladder Disease 50
31 P MCK022 Meckel Syndrome 1 54
32 NRG002 Neurogenic Bladder 50
33 c MCK017 Meckel Syndrome 4 27
34 c MCK024 Meckel Syndrome 3 27
35 c MCK025 Meckel Syndrome 2 26
36 c MCK016 Meckel Syndrome 6 25
37 c MCK015 Meckel Syndrome 7 24
38 c MCK019 Meckel Syndrome 5 24
39 c MCK026 Meckel Syndrome 12 23
40 c MCK018 Meckel Syndrome 8 21
41 c MCK021 Meckel Syndrome 9 18
42 c MCK027 Meckel Syndrome 11 17
43 c MCK023 Meckel Syndrome 10 16
44 c MCK028 Meckel Syndrome 13 16
45 c TCT005 Tctn2-Related Meckel Syndrome 13
46 c B9D001 B9d1-Related Meckel Syndrome 12
47 c B9D002 B9d2-Related Meckel Syndrome 12
48 c TMM014 Tmem231-Related Meckel Syndrome 12
49 c KF1003 Kif14-Related Meckel Syndrome 9
50 c CC2002 Cc2d2a-Related Meckel Syndrome 9
51 c CP2004 Cep290-Related Meckel Syndrome 7
52 c MKS002 Mks1-Related Meckel Syndrome 7
53 c NPH041 Nphp3-Related Meckel Syndrome 7
54 c RPG002 Rpgrip1l-Related Meckel Syndrome 7
55 c TMM004 Tmem216-Related Meckel Syndrome 7
56 c TMM007 Tmem67-Related Meckel Syndrome 7
57 RNL051 Renal Cysts and Diabetes Syndrome 46
58 c CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 33
59 CYS036 Cystinosis, Nephropathic 42
60 P URF003 Urofacial Syndrome 1 39
61 c BKV001 Bk-Virus Nephropathy 24
62 c RNL067 Renal Tubular Acidosis, Distal, Ar 23
63 c URF002 Urofacial Syndrome 2 21
64 c LRG013 Lrig2-Related Urofacial Syndrome 7
65 c HPS002 Hpse2-Related Urofacial Syndrome 7
66 BLD131 Bladder Urothelial Carcinoma 51
67 P RNL100 Renal Hypodysplasia/aplasia 1 50
68 EXS017 Exstrophy of Bladder 41
69 P SNR012 Senior-Loken Syndrome-1 49
70 LPD004 Lipoid Nephrosis 43
71 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 28
72 c SNR004 Senior-Loken Syndrome 4 22
73 c SNR016 Senior-Loken Syndrome 9 22
74 c SNR015 Senior-Loken Syndrome 8 21
75 c SNR006 Senior-Loken Syndrome 6 21
76 c SNR005 Senior-Loken Syndrome 5 21
77 c SNR007 Senior-Loken Syndrome 7 18
78 c SNR011 Senior-Loken Syndrome 3 16
79 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 13
80 URN009 Urinary System Disease 49
81 P RNL066 Renal Tubular Acidosis, Distal, Ad 26
82 P RNL028 Renal Tubular Dysgenesis 52
83 P CNG380 Congenital Anomalies of Kidney and Urinary Tract 34
84 P KDN018 Kidney Disease 65
85 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 35
86 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 18
87 CRP011 Corpus Callosum Agenesis Double Urinary Collecting 15
88 MLT033 Multicentric Osteolysis Nephropathy 11
89 BLD029 Bladder Dome Cancer 10
90 HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 46
91 NPH091 Nephrolithiasis, Calcium Oxalate 44
92 P HYP616 Hyperuricemic Nephropathy, Familial Juvenile 2 23
93 c NPH048 Nephronophthisis 1, Juvenile 40
94 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
95 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 16
96 RRM001 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 12
97 P NPH005 Nephronophthisis 54
98 P AML002 Amelogenesis Imperfecta 44
99 BLD049 Bladder Transitional Cell Papilloma 35
100 c AML017 Amelogenesis Imperfecta, Type Ib 34
101 RNL018 Renal Pelvis Carcinoma 34
102 c AML020 Amelogenesis Imperfecta, Type Iv 34
103 c AML044 Amelogenesis Imperfecta, Type Ig 33
104 c AML016 Amelogenesis Imperfecta, Type 1e 31
105 c AML057 Amelogenesis Imperfecta, Type Iiia 29
106 NPH078 Nephrolithiasis, Uric Acid 28
107 c AML047 Amelogenesis Imperfecta, Type Ia 21
108 c AML018 Amelogenesis Imperfecta, Type Ic 21
109 c AML048 Amelogenesis Imperfecta, Type Ih 20
110 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 19
111 c AML050 Amelogenesis Imperfecta, Type if 19
112 NPH002 Nephrogenic Adenoma of Urinary Bladder 19
113 c AML056 Amelogenesis Imperfecta, Type Iiib 11
114 LMY009 Leiomyomatosis, Esophageal and Vulval, with Nephropathy 10
115 BLD026 Bladder Trigone Cancer 8
116 PRS055 Pierson Syndrome 50
117 MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
118 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 23
119 RNL070 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 23
120 STR026 Star Syndrome 59
121 BLD047 Bladder Squamous Cell Carcinoma 40
122 c NPH054 Nephrotic Syndrome, Type 3 36
123 c NPH072 Nephrotic Syndrome, Type 7 34
124 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
125 ANR016 Aniridia Renal Agenesis Psychomotor Retardation 6
126 ADN024 Adenine Phosphoribosyltransferase Deficiency 48
127 P RNL017 Renal Oncocytoma 45
128 c NPH068 Nephronophthisis 16 38
129 c NPH045 Nephronophthisis 2, Infantile 37
130 c FML015 Familial Nephrotic Syndrome 36
131 c BLD008 Bladder Carcinoma in Situ 35
132 LWC001 Low Compliance Bladder 35
133 P RNL045 Renal Tubular Acidosis, Distal 31
134 JBR007 Joubert Syndrome with Renal Anomalies 31
135 c GLM033 Glomerulosclerosis, Focal Segmental, 4 29
136 c GLM039 Glomerulosclerosis, Focal Segmental, 6 29
137 c GLM026 Glomerulosclerosis, Focal Segmental, 2 28
138 c GLM027 Glomerulosclerosis, Focal Segmental, 3 27
139 c GLM028 Glomerulosclerosis, Focal Segmental, 5 26
140 c GLM041 Glomerulosclerosis, Focal Segmental, 7 25
141 c FCL053 Focal Segmental Glomerulosclerosis 8 23
142 c FCL055 Focal Segmental Glomerulosclerosis 9 22
143 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 7
144 JWT001 Jewett-Marshall Bladder Cancer 6
145 c CHR089 Chronic Kidney Failure 65
146 URN003 Urinary Schistosomiasis 46
147 c MCR113 Microvascular Complications of Diabetes 3 44
148 HYP666 Hypoparathyroidism-Deafness-Renal Disease Syndrome 34
149 BLD025 Bladder Sarcoma 25
150 c HYP376 Hypouricemia, Renal, 2 20
151 HMR004 Hemorrhagic Fever with Renal Syndrome 56
152 P CYS018 Cystitis 52
153 c ACT068 Acute Cystitis 45
154 c CHR087 Chronic Cystitis 34
155 c NPH049 Nephrotic Syndrome, Type 2 29
156 SPR001 Superficial Urinary Bladder Cancer 29
157 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 25
158 CYS025 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic 24
159 c NPH074 Nephrotic Syndrome, Type 9 23
160 c NPH096 Nephrotic Syndrome, Type 12 23
161 PRT069 Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 21
162 c NPH095 Nephrotic Syndrome, Type 11 20
163 THY044 Thymic-Renal-Anal-Lung Dysplasia 15
164 BLD009 Bladder Neck Obstruction 36
165 c NPH032 Nephronophthisis 4 36
166 c NPH070 Nephrotic Syndrome, Type 6 27
167 c HYP302 Hypomagnesemia 4, Renal 25
168 c HYP445 Hypomagnesemia 6, Renal 25
169 NNN005 Non-Invasive Bladder Papillary Urothelial Neoplasm 20
170 URN011 Urinary Tract Papillary Transitional Cell Benign Neoplasm 19
171 BLD027 Bladder Neck Cancer 17
172 P ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 14
173 BLD003 Bladder Lateral Wall Cancer 12
174 TRN058 Transitional Cell Cancer of the Renal Pelvis and Ureter 12
175 APM001 Aapoaii Amyloidosis 12
176 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 11
177 PLY043 Polyomavirus Allograft Nephropathy 11
178 APM002 Aapoai Amyloidosis 10
179 RDR001 Radio Renal Syndrome 10
180 P URN007 Urinary Bladder Anterior Wall Cancer 9
181 c URN006 Urinary Bladder Posterior Wall Cancer 8
182 P UPK001 Upk3a-Related Renal Adysplasia 6
183 URN005 Urinary Bladder Villous Adenoma 5
184 SPL022 Split Hand Urinary Anomalies Spina Bifida 5
185 BRC041 Brachymesomelia Renal Syndrome 4
186 NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 4
187 HST012 Histidinuria Renal Tubular Defect 4
188 RNL007 Renal Tubular Acidosis 48
189 NPH003 Nephrocalcinosis 47
190 HYP251 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 38
191 c NPH073 Nephrotic Syndrome, Type 8 26
192 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 22
193 c NPH076 Nephrotic Syndrome, Type 10 21
194 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
195 BLD030 Bladder Tuberculosis 18
196 c NPH093 Nephrotic Syndrome, Type 13 18
197 OLG008 Oligomeganephronic Renal Hypoplasia 14
198 ACR045 Acro-Pectoro-Renal Field Defect 6
199 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 28
200 RNL094 Renal Dysplasia, Cystic 25
201 c NPH047 Nephrotic Syndrome, Type 4 25
202 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
203 HRD044 Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 6
204 c GLM029 Glomerulosclerosis, Focal Segmental, 1 48
205 P RNL015 Renal Hypertension 47
206 RNL012 Renal Tuberculosis 39
207 c CNG029 Congenital Mesoblastic Nephroma 38
208 RNL021 Renal Tubular Transport Disease 35
209 BLD028 Bladder Lymphoma 34
210 P IGN003 Iga Nephropathy 1 31
211 FML029 Familial Renal Papillary Carcinoma 31
212 c NPH031 Nephronophthisis 3 30
213 BLD041 Bladder Calculus 29
214 ACT003 Acute Kidney Tubular Necrosis 29
215 RNL008 Renal Artery Atheroma 28
216 BLD045 Bladder Diverticulum 27
217 BLD046 Bladder Papillary Transitional Cell Neoplasm 24
218 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
219 BLD023 Bladder Leiomyoma 18
220 CHR176 Chromophil Renal Cell Carcinoma 17
221 BLD065 Blue Diaper Syndrome 17
222 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 16
223 OCL029 Oculo Skeletal Renal Syndrome 14
224 P STR090 Steroid-Resistant Nephrotic Syndrome, Nphs2-Related 14
225 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
226 AFB003 Afib Amyloidosis 11
227 P BNG003 Benign Hypertensive Renal Disease 10
228 DNT019 Daentl Towsend Siegel Syndrome 9
229 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 8
230 BLD022 Bladder Flat Intraepithelial Lesion 4
231 P NPH012 Nephrotic Syndrome 59
232 P NTR004 Neutropenia 58
233 c SVR003 Severe Congenital Neutropenia 56
234 P MCR129 Microvascular Complications of Diabetes 1 52
235 CYS039 Cystic Kidney Disease 50
236 c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42
237 BRN107 Branchiootorenal Syndrome 1, with or Without Cataracts 37
238 P PRX033 Proximal Renal Tubular Acidosis 34
239 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
240 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 33
241 c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32
242 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
243 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 29
244 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
245 c NTR033 Neutropenia, Severe Congenital 1, Autosomal Dominant 26
246 KDN006 Kidney Papillary Necrosis 24
247 c MCR112 Microvascular Complications of Diabetes 2 24
248 P C1Q005 C1q Nephropathy 24
249 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 23
250 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 23
251 c NTR037 Neutropenia, Severe Congenital 2, Autosomal Dominant 22
252 c NPH075 Nephronophthisis 18 22
253 NPH037 Nephronophthisis-Like Nephropathy 1 21
254 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 19
255 c NPH035 Nephronophthisis 9 19
256 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 19
257 c NPH086 Nephronophthisis 20 18
258 CRM007 Crome Syndrome 17
259 c NTR008 Neutropenia Chronic Familial 16
260 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 15
261 MPL011 Maple Syrup Urine Disease, Mild Variant 14
262 c ELN001 Elane-Related Neutropenia 9
263 c GT1005 Gata1-Related Neutropenia 6
264 P NPH009 Nephrolithiasis 55
265 URN010 Urinary Tract Obstruction 53
266 END030 End Stage Renal Failure 51
267 STN006 Steinfeld Syndrome 28
268 c BRN086 Branchiootorenal Syndrome 2 22
269 c BRN046 Branchiootorenal Spectrum Disorders 17
270 c EY1001 Eya1-Related Branchiootorenal Spectrum Disorders 9
271 CHL032 Childhood Multilocular Cystic Kidney Neoplasm 8
272 c SX1001 Six1-Related Branchiootorenal Spectrum Disorders 8
273 c SX5001 Six5-Related Branchiootorenal Spectrum Disorders 8
274 RNL097 Renal Artery Disease 42
275 NPH010 Nephrosclerosis 42
276 INV004 Invasive Bladder Transitional Cell Carcinoma 37
277 NPH004 Nephropathia Epidemica 36
278 P HYP348 Hyperglycinuria 34
279 HYP114 Hypertensive Nephropathy 33
280 RNL013 Renal Adenoma 32
281 c HRD020 Hereditary Renal Cell Carcinoma 31
282 SCN001 Secondary Hyperparathyroidism of Renal Origin 30
283 NPH001 Nephrogenic Adenoma 29
284 RNL104 Renal Hypodysplasia 29
285 HNM002 Hinman Syndrome 27
286 MCN004 Mucinous Tubular and Spindle Renal Cell Carcinoma 25
287 RNL105 Renal Agenesis, Unilateral 25
288 c NPH053 Nephronophthisis 11 25
289 RNL019 Renal Pelvis Transitional Cell Carcinoma 22
290 c NPH067 Nephronophthisis 12 21
291 c NPH065 Nephronophthisis 13 21
292 c RNL113 Renal Failure, Progressive, with Hypertension 21
293 c NPH077 Nephronophthisis 19 21
294 c IGN002 Iga Nephropathy 2 21
295 VNT030 Ventriculomegaly with Cystic Kidney Disease 21
296 c NPH069 Nephronophthisis 15 21
297 SNR010 Senior-Løken Syndrome 20
298 c NPH033 Nephronophthisis 7 19
299 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 19
300 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 18
301 c RNL099 Renal Hypodysplasia/aplasia 2 18
302 c HRD074 Hereditary Nephrotic Syndromes 18
303 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 18
304 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 17
305 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 15
306 ERY007 Erythropoietin Polycythemia 15
307 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 15
308 NPH008 Nephrogenic Adenoma of the Urethra 14
309 RDL030 Radial-Renal Syndrome 14
310 URN004 Urinary Bladder Inverted Papilloma 13
311 HST019 Histidinuria Due to a Renal Tubular Defect 13
312 SPR076 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 13
313 c MLG055 Malignant Cystic Nephroma 11
314 NNT002 Neonatal Urinary Tract Infectious Disease 11
315 URT023 Ureteric Orifice Cancer 11
316 c CNG407 Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization 9
317 INB002 Inborn Renal Aminoaciduria 9
318 BLD012 Bladder Urothelial Papillary Carcinoma 9
319 c VPS002 Vps33b-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 8
320 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 8
321 RNL036 Renal Dysplasia Diffuse Cystic 8
322 c VPS001 Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 8
323 MLT112 Multiloculated Renal Cyst 8
324 c NPH090 Nephrotic Syndrome, Kank4-Related 7
325 c RNL055 Renal Tubular Dysgenesis, Ace-Related 7
326 c RNL056 Renal Tubular Dysgenesis, Agtr1-Related 7
327 c RNL057 Renal Tubular Dysgenesis, Agt-Related 7
328 c RNL058 Renal Tubular Dysgenesis, Ren-Related 7
329 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
330 IDP060 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis 5
331 NNN016 Non-Nephropathic Cystinosis 5
332 BLT012 Bilateral Renal Agenesis Dominant Type 4
333 STN004 Stone in Bladder Diverticulum 4
334 c SLC022 Slc6a20-Related Hyperglycinuria 4
335 DBL008 Double Uterus-Hemivagina-Renal Agenesis 4
336 HPT029 Hepatic Fibrosis Renal Cysts Mental Retardation 3
337 ISC007 Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency 2
338 JJN005 Jejunal Atresia with Renal Adysplasia 2
339 c MCR115 Microvascular Complications of Diabetes 5 53
340 URM002 Uremia 48
341 ANR004 Anuria 44
342 DPH019 Diaphanospondylodysostosis 37
343 c MCR130 Microvascular Complications of Diabetes 6 36
344 c DNT021 Dent Disease 2 35
345 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
346 P CYS007 Cystic Nephroma 33
347 STR094 Stromme Syndrome 31
348 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 29
349 P CTR014 Cataract Microcornea Syndrome 29
350 c MCR133 Microvascular Complications of Diabetes 4 27
351 c MCR120 Microvascular Complications of Diabetes 7 26
352 c NPH071 Nephronophthisis 14 24
353 c IGN004 Iga Nephropathy 3 22
354 WBB001 Webb-Dattani Syndrome 20
355 c NPH094 Nephrotic Syndrome 14 20
356 c CTR164 Cataract 47, Juvenile, with Microcornea 20
357 c NPH092 Nephrotic Syndrome 15 19
358 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 15
359 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 13
360 ACT006 Acute Gonococcal Cystitis 6
361 RNL078 Renal Dysplasia 50
362 TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 49
363 INT067 Interstitial Nephritis 45
364 MLT084 Multicystic Dysplastic Kidney 37
365 P JBR003 Joubert Syndrome and Related Disorders 37
366 CLR112 Clear Cell Papillary Renal Cell Carcinoma 33
367 PYR004 Pyuria 31
368 c JBR012 Joubert Syndrome 5 30
369 c JBR015 Joubert Syndrome 6 29
370 c JBR041 Joubert Syndrome 3 29
371 c JBR018 Joubert Syndrome 4 29
372 c JBR016 Joubert Syndrome 10 27
373 c JBR024 Joubert Syndrome 14 27
374 c JBR014 Joubert Syndrome 9 27
375 c JBR011 Joubert Syndrome 7 27
376 c JBR031 Joubert Syndrome 21 26
377 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 26
378 c JBR026 Joubert Syndrome 15 26
379 c JBR022 Joubert Syndrome 20 26
380 c JBR013 Joubert Syndrome 8 26
381 KDN001 Kidney Cortex Necrosis 26
382 LWR004 Lower Urinary Tract Calculus 25
383 c JBR021 Joubert Syndrome 18 24
384 c JBR027 Joubert Syndrome 16 24
385 c JBR037 Joubert Syndrome 26 24
386 BRN127 Brain Malformations and Urinary Tract Defects 24
387 c JBR025 Joubert Syndrome 17 24
388 c JBR030 Joubert Syndrome 22 24
389 c JBR035 Joubert Syndrome 24 24
390 c FNC026 Fanconi Renotubular Syndrome 1 24
391 c JBR042 Joubert Syndrome 23 23
392 c JBR028 Joubert Syndrome 13 21
393 c JBR036 Joubert Syndrome 25 21
394 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
395 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 20
396 c JBR039 Joubert Syndrome 28 19
397 c JBR038 Joubert Syndrome 27 19
398 P FNC034 Fanconi Renotubular Syndrome 2 19
399 NPH066 Nephropathy Due to Cfhr5 Deficiency 17
400 c FNC049 Fanconi Renotubular Syndrome 3 17
401 c JBR040 Joubert Syndrome 30 15
402 STR095 Structural Heart Defects and Renal Anomalies Syndrome 13
403 c C5R001 C5orf42-Related Joubert Syndrome 11
404 c CSP004 Cspp1-Related Joubert Syndrome 11
405 c AH1001 Ahi1-Related Joubert Syndrome 10
406 c CP2002 Cep290-Related Joubert Syndrome 10
407 c NPH040 Nphp1-Related Joubert Syndrome 10
408 c ARL002 Arl13b-Related Joubert Syndrome 10
409 c CC2001 Cc2d2a-Related Joubert Syndrome 10
410 c CP4001 Cep41-Related Joubert Syndrome 10
411 c K05001 Kiaa0586-Related Joubert Syndrome 10
412 c KF7001 Kif7-Related Joubert Syndrome 10
413 c OFD001 Ofd1-Related Joubert Syndrome 10
414 c PD6004 Pde6d-Related Joubert Syndrome 10
415 c TCT003 Tctn1-Related Joubert Syndrome 10
416 c TCT006 Tctn3-Related Joubert Syndrome 10
417 c TMM003 Tmem216-Related Joubert Syndrome 10
418 c TMM005 Tmem237-Related Joubert Syndrome 10
419 c TMM006 Tmem67-Related Joubert Syndrome 10
420 c TTC001 Ttc21b-Related Joubert Syndrome 10
421 c TCT004 Tctn2-Related Joubert Syndrome 9
422 c TMM002 Tmem138-Related Joubert Syndrome 9
423 c TMM009 Tmem231-Related Joubert Syndrome 9
424 c ZNF004 Znf423-Related Joubert Syndrome 9
425 c INP002 Inpp5e-Related Joubert Syndrome 7
426 c RPG001 Rpgrip1l-Related Joubert Syndrome 7
427 P GLL020 Gallbladder Disease 58
428 c ACT071 Acute Kidney Failure 48
429 RNL077 Renal Fibrosis 46
430 FML031 Female Stress Incontinence 40
431 KDN015 Kidney Angiomyolipoma 40
432 RNL025 Renal Hypoplasia 39
433 IMP003 Impaired Renal Function Disease 36
434 c KDN016 Kidney Benign Neoplasm 36
435 c GLL024 Gallbladder Disease 1 36
436 CLL007 Cellular Congenital Mesoblastic Nephroma 35
437 RNL001 Renal Artery Obstruction 29
438 NPH006 Nephrogenic Adenofibroma 28
439 ACR059 Acro-Renal-Ocular Syndrome 28
440 P ADL014 Adult Mesoblastic Nephroma 28
441 c GLL027 Gallbladder Disease 4 23
442 P BLD040 Bladder Benign Neoplasm 23
443 c RNL016 Renal Infectious Disease 23
444 KDN004 Kidney Hemangiopericytoma 22
445 c FML268 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 22
446 EPT005 Epithelial Predominant Wilms' Tumor 22
447 P INT262 Intermediate Maple Syrup Urine Disease 21
448 BLT020 Bilateral Multicystic Dysplastic Kidney 20
449 ESN003 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma 19
450 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
451 c GLL025 Gallbladder Disease 2 18
452 c GLL026 Gallbladder Disease 3 18
453 BRN121 Branchiootorenal/branchiootic Syndrome 17
454 UNL014 Unilateral Multicystic Dysplastic Kidney 17
455 c FML028 Familial Renal Oncocytoma 17
456 MXD009 Mixed Cell Type Kidney Wilms' Tumor 17
457 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 16
458 TFR002 Tafro Syndrome 16
459 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 16
460 c FML267 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 15
461 RNL109 Renal Hypoplasia, Bilateral 15
462 c KDN012 Kidney Carcinoma in Situ 15
463 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 14
464 BLD011 Bladder Verrucous Squamous Cell Carcinoma 14
465 c LTN020 Late-Onset Nephronophthisis 13
466 RNL010 Renal Pelvis Inverted Papilloma 13
467 SNR014 Senior-Boichis Syndrome 13
468 NLP003 Nail-Patella-Like Renal Disease 12
469 P SPR075 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 12
470 BLS005 Blastema Predominant Kidney Wilms' Tumor 12
471 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
472 STR009 Stromal Predominant Kidney Wilms' Tumor 11
473 BLD024 Bladder Squamous Papilloma 11
474 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 11
475 TBL026 Tubulocystic Renal Cell Carcinoma 11
476 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 11
477 HRD003 Hereditary Conventional Renal Cell Carcinoma 11
478 NPH050 Nephropathy, Progressive, with Deafness 11
479 c NPH034 Nephronophthisis 8 10
480 CLS004 Classic Congenital Mesoblastic Nephroma 10
481 c FML230 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 10
482 ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 10
483 c MLG004 Malignant Hypertensive Renal Disease 10
484 RNL107 Renal Dysplasia, Bilateral 9
485 CNG337 Congenital Renal Artery Stenosis 9
486 BLD004 Bladder Urachal Urothelial Carcinoma 9
487 BLD050 Bladder Urachal Carcinoma 9
488 NNN004 Non-Invasive Bladder Urothelial Carcinoma 9
489 c HRD075 Hereditary Nephrotic Syndromes, Autosomal Dominant 8
490 c HRD076 Hereditary Nephrotic Syndromes, Autosomal Recessive 8
491 c RNR002 Ren-Related Kidney Disease 8
492 RNL106 Renal Dysplasia, Unilateral 8
493 INF035 Infiltrating Renal Pelvis Transitional Cell Carcinoma 8
494 GLL001 Gall Bladder Carcinoma in Situ 8
495 BLD013 Bladder Urachal Squamous Cell Carcinoma 8
496 c RNL049 Renal Tubular Acidosis, Distal, Type 4 7
497 URN002 Urinary Tract Non-Invasive Transitional Cell Neoplasm 7
498 DRG019 Drug-Related Renal Tubular Dysgenesis 6
499 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
500 RNL108 Renal Hypoplasia, Unilateral 6
501 LPD005 Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
502 MCR006 Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma 6
503 MCR008 Microcystic Variant Infiltrating Bladder Urothelial Carcinoma 6
504 CLR016 Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma 6
505 NST001 Nested Variant Infiltrating Bladder Urothelial Carcinoma 6
506 PLS004 Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma 6
507 CHL044 Childhood Kidney Angiomyolipoma 6
508 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 5
509 IDP058 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change 5
510 c CL4008 Col4a4-Related Nephropathy 5
511 P SPR074 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 5
512 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
513 IDP059 Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
514 c CL4006 Col4a5-Related Nephropathy 4
515 c CL4007 Col4a3-Related Nephropathy 4
516 c ATS111 Autosomal Dominant Proximal Renal Tubular Acidosis 4
517 NNR001 Non-Renal Secondary Hyperparathyroidism 4
518 CLS003 Classic Variant of Chromophobe Renal Cell Carcinoma 4
519 RNL020 Renal Pelvis Urothelial Papilloma 4
520 P SPR073 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 4
521 SPR078 Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy 4
522 ADL092 Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome 3
523 c STR091 Steroid-Resistant Nephrotic Syndrome, Xpo5-Related 3
524 c RNL030 Renal Adysplasia Dominant Type 3
525 CRD213 Cardiomyopathy-Renal Anomalies Syndrome 3
526 RNL031 Renal Agenesis Meningomyelocele Mullerian Defect 2
527 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 2
528 P AMY004 Amyloidosis 64
529 P CNJ013 Conjunctivitis 63
530 P GT001 Gout 55
531 P HYP613 Hypophosphatemic Rickets 55
532 P SMP003 Simpson-Golabi-Behmel Syndrome 53
533 P PLY014 Polycystic Kidney Disease 52
534 P PYL005 Pyelonephritis 52
535 P DBT005 Diabetes Insipidus 52
536 c PLY060 Polycystic Kidney Disease 2 51
537 P PRM002 Primary Hyperoxaluria 50
538 c PLY145 Polycystic Kidney Disease 1 50
539 P CNG411 Congenital Disorder of Glycosylation, Type in 48
540 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
541 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
542 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 47
543 HYP135 Hypophosphatemic Rickets with Hypercalciuria 46
544 P RNV001 Renovascular Hypertension 46
545 LPP002 Lipoprotein Glomerulopathy 45
546 GLL032 Galloway-Mowat Syndrome 45
547 c CHR086 Chronic Conjunctivitis 45
548 HYP347 Hypotonia-Cystinuria Syndrome 45
549 c HRD039 Hereditary Amyloidosis 44
550 c ACT042 Acute Pyelonephritis 44
551 P RPD001 Rapidly Progressive Glomerulonephritis 44
552 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43
553 HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43
554 P PSD003 Pseudohypoaldosteronism 43
555 P PRL003 Proliferative Glomerulonephritis 43
556 IDP073 Idiopathic Hypercalciuria 42
557 CRS001 Crescentic Glomerulonephritis 41
558 URT004 Urethral Syndrome 41
559 c HRD009 Hereditary Wilms' Tumor 40
560 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
561 c HYP617 Hyperoxaluria, Primary, Type 1 40
562 c PLY139 Polycystic Kidney Disease 3 40
563 URT001 Urethritis 40
564 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
565 VTR016 Vater/vacterl Association 39
566 PDT035 Pediatric Systemic Lupus Erythematosus 39
567 EPS026 Epispadias 38
568 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 37
569 c PSD092 Pseudohypoaldosteronism, Type Iie 37
570 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
571 RDT001 Radiation Cystitis 35
572 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
573 P XNT004 Xanthinuria 35
574 c CHR098 Chronic Pyelonephritis 35
575 PRP056 Porphyria, Acute Hepatic 35
576 MTH039 Methylmalonic Aciduria, Mut(0) Type 35
577 PYL004 Pyelitis 35
578 URT014 Ureterolithiasis 35
579 c BCT006 Bacterial Conjunctivitis 34
580 DFF015 Diffuse Glomerulonephritis 34
581 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
582 ACT040 Acute Poststreptococcal Glomerulonephritis 34
583 c HYP602 Hyperoxaluria, Primary, Type Ii 34
584 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
585 c TYP024 Type Ii Mixed Cryoglobulinemia 33
586 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
587 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 32
588 c HRD086 Hereditary Hypophosphatemic Rickets 32
589 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32
590 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
591 c ACT079 Acute Proliferative Glomerulonephritis 32
592 URT037 Urethral Stricture 32
593 c HPR001 Hprt-Related Gout 32
594 KDN013 Kidney Hypertrophy 31
595 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
596 PRN007 Perinephritis 31
597 c CNG379 Congenital Disorder of Glycosylation, Type It 31
598 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
599 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
600 c ACT067 Acute Conjunctivitis 31
601 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
602 P ANT061 Antenatal Bartter Syndrome 30
603 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
604 URT016 Urethral Diverticulum 29
605 PRT094 Protoporphyria, Erythropoietic, X-Linked 29
606 c CNG188 Congenital Disorder of Glycosylation, Type if 29
607 OSC001 Oeis Complex 29
608 XNT001 Xanthogranulomatous Pyelonephritis 29
609 c RBN008 Rubinstein-Taybi Syndrome 2 28
610 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
611 c HYP603 Hyperoxaluria, Primary, Type Iii 28
612 c HML034 Hemolytic Uremic Syndrome, Atypical 3 28
613 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
614 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
615 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
616 c HML032 Hemolytic Uremic Syndrome, Atypical 4 28
617 c HML037 Hemolytic Uremic Syndrome, Atypical 5 28
618 TRG001 Trigonitis 27
619 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
620 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
621 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
622 c HRD142 Hereditary Xanthinuria 27
623 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
624 ORT001 Orthostatic Proteinuria 26
625 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
626 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
627 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
628 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
629 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
630 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
631 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
632 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25
633 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
634 c WLM005 Wilms Tumor 2 24
635 KDN009 Kidney Fibrosarcoma 24
636 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
637 c HYP320 Hypophosphatemic Rickets, Ar 23
638 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
639 c PSD090 Pseudohypoaldosteronism, Type Iia 23
640 P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 23
641 c PRP091 Porphyria Cutanea Tarda, Type I 23
642 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
643 c FML324 Familial Porphyria Cutanea Tarda 23
644 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
645 c WLM011 Wilms Tumor 6 22
646 c SYS066 Systemic Polyarteritis Nodosa 22
647 c PSD093 Pseudohypoaldosteronism, Type Iid 22
648 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
649 c PRM150 Primary Localized Amyloidosis 22
650 c MTH034 Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 22
651 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
652 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
653 c HRD156 Hereditary Central Diabetes Insipidus 21
654 HVY003 Heavy Chain Deposition Disease 21
655 c PSD068 Pseudohypoaldosteronism, Type Iic 21
656 c PSD094 Pseudohypoaldosteronism, Type Iib 21
657 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
658 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 20
659 c MLG003 Malignant Renovascular Hypertension 20
660 c PLY048 Polycystic Kidney Disease 1, Autosomal Dominant 19
661 c PLY141 Polycystic Kidney Disease 5 19
662 P ACR072 Acrorenal Syndrome 19
663 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 19
664 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
665 P FML153 Familial Wilms Tumor 18
666 c ACQ034 Acquired Central Diabetes Insipidus 18
667 EXD002 Exudative Glomerulonephritis 18
668 KDN014 Kidney Leiomyosarcoma 17
669 c SBC010 Subacute Glomerulonephritis 16
670 THY105 Thyrocerebroretinal Syndrome 16
671 LGH014 Light and Heavy Chain Deposition Disease 16
672 c PLY049 Polycystic Kidney Disease 2, Autosomal Dominant 16
673 c AHM002 Ah Amyloidosis 16
674 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 16
675 c PRM222 Primary Polyarteritis Nodosa 16
676 c TRN053 Transient Pseudohypoaldosteronism 15
677 GNR029 Generalized Galactose Epimerase Deficiency 15
678 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 15
679 ACR109 Acropectororenal Dysplasia 14
680 P CNG326 Congenital Primary Megaureter 14
681 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 14
682 IGG011 Igg4-Related Kidney Disease 14
683 CNG330 Congenital Megacalycosis 13
684 KDN005 Kidney Liposarcoma 13
685 PTN009 Patent Urachus 12
686 c SCN055 Secondary Polyarteritis Nodosa 12
687 c FML094 Familial Wilms Tumor 2 12
688 APV001 Aapoaiv Amyloidosis 11
689 c MXD037 Mixed Cryoglobulinemia Type Iii 11
690 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
691 ATR053 Atresia of Urethra 11
692 URC012 Urachal Sinus 11
693 P ANT062 Anterior Urethral Valve 11
694 URC013 Urachal Diverticulum 10
695 PYL001 Pyeloureteritis Cystica 10
696 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 10
697 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
698 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
699 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 9
700 CLL035 Collagen Type Iii Glomerulopathy 9
701 MTC002 Metachronous Kidney Wilms' Tumor 9
702 c THB001 Thbd-Related Atypical Hemolytic-Uremic Syndrome 9
703 P RBN007 Rubinstein Taybi Like Syndrome 9
704 c JVN036 Juvenile Sialidosis Type 2 8
705 c CNG348 Congenital Sialidosis Type 2 8
706 c GTH001 Gout, Hprt1-Related 8
707 ACT041 Acute Diffuse Nephritis 8
708 KDN003 Kidney Lipoma 8
709 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
710 MGC005 Megacystis-Megaureter Syndrome 7
711 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
712 c BNG028 Benign Renovascular Hypertension 7
713 ATH002 Atheroembolism of Kidney 7
714 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
715 MSC089 Mosaic Monosomy X 7
716 SNG013 Single-Organ Polyarteritis Nodosa 7
717 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 7
718 c C3R001 C3-Related Atypical Hemolytic-Uremic Syndrome 6
719 c CD4005 Cd46-Related Atypical Hemolytic-Uremic Syndrome 6
720 c CFB001 Cfb-Related Atypical Hemolytic-Uremic Syndrome 6
721 c CFH004 Cfh-Related Atypical Hemolytic-Uremic Syndrome 6
722 c CFR001 Cfi-Related Atypical Hemolytic-Uremic Syndrome 6
723 c GPC001 Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 6
724 c GPC002 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1 6
725 c DGK002 Dgke-Related Atypical Hemolytic-Uremic Syndrome 6
726 c PSD047 Pseudo-Turner Syndrome 6
727 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
728 c OFD003 Ofd1-Related Simpson-Golabi-Behmel Syndrome Type 2 6
729 c PGR001 Piga-Related Simpson-Golabi-Behmel Syndrome Type 2 6
730 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
731 NNC001 Non-Congenital Cyst of Kidney 5
732 c ACR048 Acrorenal Syndrome Recessive 5
733 UNL009 Unilateral Congenital Megacalycosis 4
734 CNG331 Congenital Bilateral Megacalycosis 4
735 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
736 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 4
737 STR004 Stricture or Kinking of Ureter 4
738 c PRM147 Primary Megaureter, Adult-Onset Form 4
739 BNG089 Benign Metanephric Tumour 4
740 CNG270 Congenital Primary Megaureter, Obstructed Form 4
741 CNG269 Congenital Primary Megaureter, Refluxing Form 4
742 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
743 ANT002 Anti-Basement Membrane Glomerulonephritis 4
744 FCL004 Focal Embolic Glomerulonephritis 3
745 RNL101 Renal Cell Carcinoma, Papillary 62
746 RNL026 Renal Tubular Acidosis with Deafness 28
747 P RNL014 Renal Cell Carcinoma 80
748 c RNL003 Renal Clear Cell Carcinoma 54
749 CHR177 Chromophobe Renal Cell Carcinoma 54
750 P INT143 Interstitial Cystitis 54
751 CLR030 Clear Cell Renal Cell Carcinoma 51
752 c CHR020 Chronic Interstitial Cystitis 41
753 BLD039 Bladder Adenocarcinoma 35
754 P ALP004 Alport Syndrome 70
755 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
756 BLD064 Bladder Cancer, Childhood 14
757 P KDN017 Kidney Cancer 65
758 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 45
759 MLT149 Multilocular Cystic Clear Cell Renal Cell Neoplasm of Low Malignant Potential 11
760 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 40
761 RNL039 Renal Dysplasia-Limb Defects Syndrome 21
762 c ALM001 Al Amyloidosis 56
763 DNY001 Denys-Drash Syndrome 54
764 c AMY009 Amyloidosis Aa 45
765 FNC009 Fanconi-Bickel Syndrome 51
766 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 18
767 BLD031 Bladder Signet Ring Cell Adenocarcinoma 14
768 RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 14
769 LWS003 Lowe Syndrome 59
770 P CTS001 Cutis Laxa 60
771 c PSD095 Pseudohypoaldosteronism, Type I 53
772 PRN038 Prune Belly Syndrome 48
773 GNT031 Genitopatellar Syndrome 43
774 c PSD096 Pseudohypoaldosteronism Type I, Autosomal Dominant 42
775 c CTS008 Cutis Laxa, Autosomal Dominant 37
776 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
777 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
778 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
779 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
780 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
781 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
782 c ACQ027 Acquired Cutis Laxa 26
783 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
784 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 25
785 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
786 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
787 CYS024 Cystinosis, Ocular Nonnephropathic 24
788 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
789 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
790 c ATP003 Atp6v0a2-Related Cutis Laxa 19
791 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
792 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 17
793 c EFM001 Efemp2-Related Cutis Laxa 16
794 c ALD008 Aldh18a1-Related Cutis Laxa 15
795 c LTB003 Ltbp4-Related Cutis Laxa 12
796 c PYC002 Pycr1-Related Cutis Laxa 11
797 c FBL003 Fbln5-Related Cutis Laxa 9
798 c ELN002 Eln-Related Cutis Laxa 7
799 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 21
800 RNL089 Renal Nutcracker Syndrome 17
801 RNL112 Renal, Genital, and Middle Ear Anomalies 16
802 BLD043 Bladder Clear Cell Adenocarcinoma 13
803 INF029 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 6
804 c JBR020 Joubert Syndrome 1 61
805 NPH018 Nephrogenic Systemic Fibrosis 50
806 c ALP074 Alport Syndrome, Autosomal Dominant 44
807 PRM237 Primary Hypomagnesemia 43
808 JBR006 Joubert Syndrome with Oculorenal Anomalies 35
809 FGN001 Feigenbaum Bergeron Richardson Syndrome 7
810 CRN239 Carnitine Deficiency, Systemic Primary 49
811 RNL011 Renal Osteodystrophy 44
812 RHY001 Rhyns Syndrome 40
813 P BRN006 Branchiootorenal Syndrome 40
814 ACR102 Acrorenal-Mandibular Syndrome 25
815 RNL004 Renal Pelvis Adenocarcinoma 21
816 STK001 Saito Kuba Tsuruta Syndrome 12
817 DNM003 Daneman Davy Mancer Syndrome 9
818 GTL001 Gitelman Syndrome 61
819 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 57
820 P FNC004 Fanconi Syndrome 48
821 MDL009 Medullary Sponge Kidney 42
822 SRC002 Sarcomatoid Renal Cell Carcinoma 39
823 DCR008 Dicarboxylic Aminoaciduria 36
824 KDN007 Kidney Clear Cell Sarcoma 29
825 c FNC059 Fanconi-Like Syndrome 28
826 MLT003 Multilocular Clear Cell Renal Cell Carcinoma 28
827 c PRM200 Primary Fanconi Syndrome 24
828 RNL009 Renal Pelvis Squamous Cell Carcinoma 20
829 NPH025 Nephrotic Syndrome Ocular Anomalies 9
830 RNL032 Renal Caliceal Diverticuli Deafness 5
831 GRN023 Green Sandford Davison Syndrome 4
832 c JBR004 Joubert Syndrome 2 35
833 c TWN011 Townes-Brocks Syndrome 1 24
834 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 23
835 c TWN010 Townes-Brocks Syndrome 2 15
836 SLC010 Salcedo Syndrome 5
837 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
838 c PRX045 Peroxisome Biogenesis Disorder 1b 53
839 c BRT034 Bartter Syndrome, Type 2 49
840 P BRT004 Bartter Disease 46
841 c BRT042 Bartter Syndrome, Type 3 45
842 c BRT035 Bartter Syndrome, Type 4a 36
843 c PRX059 Peroxisome Biogenesis Disorder 1a 36
844 c BRT033 Bartter Syndrome, Type 1 35
845 c PRX060 Peroxisome Biogenesis Disorder 5a 31
846 c PRX063 Peroxisome Biogenesis Disorder 2a 30
847 c PRX065 Peroxisome Biogenesis Disorder 3a 30
848 c PRX054 Peroxisome Biogenesis Disorder 12a 27
849 c PRX055 Peroxisome Biogenesis Disorder 11a 27
850 c PRX057 Peroxisome Biogenesis Disorder 4a 26
851 c PRX091 Peroxisome Biogenesis Disorder 8a 26
852 c PRX048 Peroxisome Biogenesis Disorder 10a 25
853 c PRX053 Peroxisome Biogenesis Disorder 14b 25
854 c PRX046 Peroxisome Biogenesis Disorder 7a 25
855 c PRX052 Peroxisome Biogenesis Disorder 13a 25
856 P PRX051 Peroxisome Biogenesis Disorder 6a 25
857 c PRX050 Peroxisome Biogenesis Disorder 9b 24
858 c PRX047 Peroxisome Biogenesis Disorder 5b 23
859 ARD001 Aredyld 22
860 c PRX062 Peroxisome Biogenesis Disorder 8b 22
861 c PRX058 Peroxisome Biogenesis Disorder 4b 22
862 c PRX043 Peroxisome Biogenesis Disorder 6b 22
863 c PRX056 Peroxisome Biogenesis Disorder 11b 21
864 c PRX068 Peroxisome Biogenesis Disorder 7b 20
865 c PRX066 Peroxisome Biogenesis Disorder 3b 18
866 c BRT024 Bartter Syndrome Type 4 18
867 c PRX064 Peroxisome Biogenesis Disorder 2b 18
868 c PRX089 Peroxisome Biogenesis Disorder 10b 16
869 ELL004 Ellis Yale Winter Syndrome 6
870 DFF021 Diffuse Mesangial Sclerosis 37
871 CHL010 Childhood Kidney Cell Carcinoma 33
872 KDN019 Kidney Sarcoma 30
873 ALP047 Alport Syndrome and Thin Basement Membrane Nephropathy 28
874 KDN002 Kidney Rhabdoid Cancer 26
875 HLZ001 Holzgreve Syndrome 20
876 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
877 VSC014 Vascular Hyalinosis 17
878 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 15
879 KDN008 Kidney Pelvis Papillary Carcinoma 13
880 HRR004 Herrmann Syndrome 13
881 BLD014 Bladder Colonic Type Adenocarcinoma 12
882 c RNL048 Renal Tubular Acidosis, Distal, Type 3 12
883 BRD026 Bor-Duane Hydrocephalus Contiguous Gene Syndrome 12
884 BLD010 Bladder Colloid Adenocarcinoma 11
885 URT041 Urethral Obstruction Sequence 11
886 BLD017 Bladder Mixed Adenocarcinoma 11
887 BLD021 Bladder Urachal Adenocarcinoma 10
888 BLD016 Bladder Papillary Clear Cell Adenocarcinoma 10
889 KDN011 Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma 10
890 BLD020 Bladder Diffuse Clear Cell Adenocarcinoma 10
891 NNP009 Non-Papillary Transitional Cell Carcinoma of the Bladder 8
892 VCT003 Vacterl Hydrocephaly 6
893 BLD018 Bladder Hepatoid Adenocarcinoma 6
894 KRN006 Karandikar Maria Kamble Syndrome 5
895 BLD015 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 5
896 LNG042 Langer Nishino Yamaguchi Syndrome 4
897 RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 4
898 SLG001 Selig Benacerraf Greene Syndrome 4
899 BNR003 Ben Ari Shuper Mimouni Syndrome 4
900 ALL011 Allain-Babin-Demarquez Syndrome 4
901 LCH006 Lachiewicz Sibley Syndrome 4
902 ALS004 Alsing Syndrome 3
903 FRS005 Fraser Jequier Chen Syndrome 3
904 BLL008 Billet Bear Syndrome 3
905 GRL001 Gorlin Bushkell Jensen Syndrome 3
906 NPH020 Nephronophthisis Familial Adult Spastic Quadriparesis 2
907 NPH022 Nephropathy Familial with Hyperuricemia 2
908 c SYS001 Systemic Lupus Erythematosus 86
909 P MLT019 Multiple Myeloma 82
910 c FNC027 Fanconi Anemia, Complementation Group a 71
911 FBR012 Fabry Disease 71
912 P PSD087 Pseudoxanthoma Elasticum 67
913 P TBR001 Tuberous Sclerosis 67
914 GLC006 Galactosemia 66
915 P TRN020 Turner Syndrome 65
916 P BRD002 Bardet-Biedl Syndrome 64
917 P LPS004 Lupus Erythematosus 63
918 CYS013 Cystinuria 63
919 BHC003 Behcet Syndrome 62
920 WLL001 Williams-Beuren Syndrome 62
921 WGN006 Wegener Granulomatosis 61
922 TKY002 Takayasu Arteritis 60
923 ADL030 Adult-Onset Still's Disease 60
924 ELL001 Ellis-Van Creveld Syndrome 59
925 P BCK002 Beckwith-Wiedemann Syndrome 58
926 PRP083 Porphyria, Acute Intermittent 55
927 c BRD010 Bardet-Biedl Syndrome 1 55
928 NRM005 Neuromuscular Disease 55
929 ALS001 Alstrom Syndrome 55
930 P GLM007 Glomerulonephritis 55
931 c TBR024 Tuberous Sclerosis-1 55
932 PLY142 Polycystic Kidney Disease 4, with or Without Hepatic Disease 54
933 P LDD002 Liddle Syndrome 53
934 ASP005 Asphyxiating Thoracic Dystrophy 53
935 c PSD066 Pseudohypoparathyroidism, Type Ib 52
936 P PLY041 Polymyositis 52
937 APP015 Apparent Mineralocorticoid Excess 52
938 RLP001 Relapsing Polychondritis 51
939 PRP032 Porphyria Variegata 51
940 MCR088 Microscopic Polyangiitis 51
941 NRM003 Norum Disease 51
942 P FNC043 Fanconi Anemia, Complementation Group E 51
943 P PLY017 Polyarteritis Nodosa 51
944 P CRN108 Cranioectodermal Dysplasia 1 50
945 c BRD014 Bardet-Biedl Syndrome 2 50
946 BRT002 Birt-Hogg-Dube Syndrome 50
947 PTS001 Patau Syndrome 50
948 FRS002 Frasier Syndrome 49
949 PRP082 Porphyria, Congenital Erythropoietic 48
950 c BRD011 Bardet-Biedl Syndrome 10 48
951 c FNC042 Fanconi Anemia, Complementation Group D2 48
952 c BRD012 Bardet-Biedl Syndrome 11 48
953 HMG002 Hemoglobinuria 48
954 c BRD013 Bardet-Biedl Syndrome 12 47
955 c FRC011 Fructose Intolerance, Hereditary 46
956 PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 46
957 c PST041 Posterior Urethral Valves 46
958 HRT031 Hartnup Disorder 46
959 MMB001 Membranoproliferative Glomerulonephritis 46
960 P PSD015 Pseudohypoparathyroidism 46
961 c BRD044 Bardet-Biedl Syndrome 17 45
962 P SLD010 Sialidosis, Type I 44
963 c BRD016 Bardet-Biedl Syndrome 4 44
964 GLC011 Galactose Epimerase Deficiency 44
965 c BRD015 Bardet-Biedl Syndrome 3 44
966 CTY001 Cat Eye Syndrome 43
967 FSH001 Fish-Eye Disease 43
968 c XNT010 Xanthinuria, Type I 43
969 LGH004 Light Chain Deposition Disease 42
970 c BRD033 Bardet-Biedl Syndrome 13 42
971 EMP007 Emphysema Due to Aat Deficiency 42
972 c BRD020 Bardet-Biedl Syndrome 8 42
973 c FNC045 Fanconi Anemia, Complementation Group F 42
974 CMP042 Complement Factor H Deficiency 41
975 MSN001 Mesangial Proliferative Glomerulonephritis 41
976 c BRD048 Bardet-Biedl Syndrome 18 41
977 c BRD017 Bardet-Biedl Syndrome 5 41
978 c BRD018 Bardet-Biedl Syndrome 6 41
979 IMM001 Immune-Complex Glomerulonephritis 41
980 c BRD032 Bardet-Biedl Syndrome 14 40
981 c BRD035 Bardet-Biedl Syndrome 15 39
982 c SYS061 Systemic Lupus Erythematosus 16 38
983 c BRD045 Bardet-Biedl Syndrome 19 35
984 c BRD047 Bardet-Biedl Syndrome 16 34
985 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34
986 BRT032 Bartter Syndrome, Type 4b, Digenic 34
987 c PSD104 Pseudohypoparathyroidism, Type Ii 33
988 c XNT011 Xanthinuria, Type Ii 32
989 c SYS043 Systemic Lupus Erythematosus 1 32
990 MGL016 Megaloblastic Anemia-1, Finnish Type 32
991 c FNC028 Fanconi Anemia, Complementation Group L 32
992 c ALG016 Alagille Syndrome 2 32
993 GLC010 Galactokinase Deficiency with Cataracts 32
994 PCM002 Pauci-Immune Glomerulonephritis 31
995 P PTT002 Potter's Syndrome 31
996 c BRD019 Bardet-Biedl Syndrome 7 30
997 c FNC046 Fanconi Anemia, Complementation Group P 30
998 c FNC024 Fanconi Anemia, Complementation Group D1 30
999 c FNC029 Fanconi Anemia, Complementation Group I 29
1000 c PSD058 Pseudohypoparathyroidism Ic 29
1001 c FNC023 Fanconi Anemia, Complementation Group N 28
1002 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 28
1003 c HML036 Hemolytic Uremic Syndrome, Atypical 6 27
1004 c SYS038 Systemic Lupus Erythematosus 2 27
1005 CTN019 Cutaneous Polyarteritis Nodosa 26
1006 c CRN111 Cranioectodermal Dysplasia 4 25
1007 c FNC025 Fanconi Anemia, Complementation Group J 25
1008 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 25
1009 c CRN110 Cranioectodermal Dysplasia 3 24
1010 HYP648 Hypertension and Brachydactyly Syndrome 24
1011 c FNC048 Fanconi Anemia, Complementation Group O 24
1012 INT258 Interstitial Nephritis, Karyomegalic 24
1013 c CRN109 Cranioectodermal Dysplasia 2 24
1014 URM001 Uremic Neuropathy 24
1015 c SYS046 Systemic Lupus Erythematosus 3 24
1016 c BRD021 Bardet-Biedl Syndrome 9 23
1017 c SYS041 Systemic Lupus Erythematosus 9 23
1018 c FNC047 Fanconi Anemia, Complementation Group Q 23
1019 HYP344 Hyperthyroidism, Familial Gestational 23
1020 c SYS053 Systemic Lupus Erythematosus 5 23
1021 c FNC058 Fanconi Anemia, Complementation Group R 22
1022 TBL025 Tubulointerstitial Nephritis with Uveitis 22
1023 c SYS051 Systemic Lupus Erythematosus 4 22
1024 c SYS040 Systemic Lupus Erythematosus 10 22
1025 c BRD050 Bardet-Biedl Syndrome 21 22
1026 c SYS055 Systemic Lupus Erythematosus 12 22
1027 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 21
1028 AXL004 Axial Mesodermal Dysplasia Spectrum 21
1029 THL011 Thalassemia-Beta, Dominant Inclusion-Body 21
1030 P FNC052 Fanconi Anemia, Complementation Group T 21
1031 c JVN046 Juvenile Polymyositis 20
1032 FBR085 Fibrillary Glomerulonephritis 20
1033 URC005 Urachal Cyst 20
1034 c SYS067 Systemic Lupus Erythematosus 15 20
1035 c BBS002 Bbs10-Related Bardet-Biedl Syndrome 19
1036 FCC002 Faciocardiorenal Syndrome 19
1037 c FNC057 Fanconi Anemia, Complementation Group U 19
1038 c SYS048 Systemic Lupus Erythematosus 8 19
1039 c SYS045 Systemic Lupus Erythematosus 14 18
1040 c FNC056 Fanconi Anemia, Complementation Group V 18
1041 c SYS065 Systemic Lupus Erythematosus 11 18
1042 c SYS047 Systemic Lupus Erythematosus 7 17
1043 c BRD051 Bardet-Biedl Syndrome 20 17
1044 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 17
1045 DYS180 Dyschondrosteosis and Nephritis 17
1046 c SYS052 Systemic Lupus Erythematosus 13 16
1047 c RNL033 Renal Carcinoma, Familial 15
1048 c BBS004 Bbs1-Related Bardet-Biedl Syndrome 15
1049 c BBS005 Bbs2-Related Bardet-Biedl Syndrome 14
1050 INF059 Infundibulopelvic Dysgenesis 14
1051 c BBS006 Bbs4-Related Bardet-Biedl Syndrome 13
1052 DPL007 Duplication of Urethra 13
1053 c BBS008 Bbs7-Related Bardet-Biedl Syndrome 13
1054 c BBS003 Bbs12-Related Bardet-Biedl Syndrome 13
1055 c BBS009 Bbs9-Related Bardet-Biedl Syndrome 13
1056 c BBS007 Bbs5-Related Bardet-Biedl Syndrome 12
1057 ATS139 Autosomal Dominant Medullary Cystic Kidney Disease with Hyperuricemia 12
1058 c TTC002 Ttc8-Related Bardet-Biedl Syndrome 12
1059 P ACQ013 Acquired Fructose Intolerance 12
1060 c ARL003 Arl6-Related Bardet-Biedl Syndrome 11
1061 c IFT002 Ift27-Related Bardet-Biedl Syndrome 11
1062 c TRM009 Trim32-Related Bardet-Biedl Syndrome 11
1063 c ACQ026 Acquired Pseudoxanthoma Elasticum 10
1064 ATS349 Autosomal Dominant Medullary Cystic Kidney Disease Without Hyperuricemia 10
1065 c BBP001 Bbip1-Related Bardet-Biedl Syndrome 10
1066 c CP2001 Cep290-Related Bardet-Biedl Syndrome 10
1067 c MKK001 Mkks-Related Bardet-Biedl Syndrome 10
1068 c MKS001 Mks1-Related Bardet-Biedl Syndrome 10
1069 c WDP001 Wdpcp-Related Bardet-Biedl Syndrome 10
1070 c LDD003 Liddle Syndrome, Scnn1b-Related 10
1071 c LDD004 Liddle Syndrome, Scnn1g-Related 10
1072 NNM007 Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 10
1073 c JG1001 Jag1-Related Alagille Syndrome 8
1074 c NTC001 Notch2-Related Alagille Syndrome 8
1075 c ITG003 Itgam-Related Susceptibility to Systemic Lupus Erythematosus 8
1076 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 8
1077 c SDC001 Sdccag8-Related Bardet-Biedl Syndrome 8
1078 URT019 Urethral Gland Abscess 7
1079 c CR2002 Cr2-Related Susceptibility to Systemic Lupus Erythematosus 7
1080 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 7
1081 PCM003 Pauci-Immune Glomerulonephritis Without Anca 7
1082 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1083 c PTT025 Potter Syndrome Type 1 7
1084 GLB017 Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 6
1085 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 6
1086 c DNS006 Dnase1-Related Susceptibility to Systemic Lupus Erythematosus 6
1087 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1088 c IGH002 Igh-Related Multiple Myeloma 5
1089 PCM004 Pauci-Immune Glomerulonephritis with Anca 4
1090 c PTT026 Potter Syndrome Type 2 3
1091 c PTT027 Potter Syndrome Type 3 3
1092 c PTT028 Potter Syndrome Type 4 3
1093 P AMY082 Amyloidosis, Familial Visceral 46
1094 c AP1002 Apoa1-Related Familial Visceral Amyloidosis 5
1095 c FGR002 Fga-Related Familial Visceral Amyloidosis 5
1096 c LYZ001 Lyz-Related Familial Visceral Amyloidosis 5
1097 OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 32
1098 CLL002 Collecting Duct Carcinoma 44
1099 SCH016 Schimke Immunoosseous Dysplasia 47
1100 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 33
1101 P FCL005 Focal Segmental Glomerulosclerosis 60
1102 P TWN003 Townes-Brocks Syndrome 54
1103 P MLN043 Melanoma, Cutaneous Malignant 8 36
1104 c MLN032 Melanoma, Cutaneous Malignant, 2 32
1105 c MLN050 Melanoma, Cutaneous Malignant, 3 31
1106 c MLN049 Melanoma, Cutaneous Malignant, 9 26
1107 c MLN052 Melanoma, Cutaneous Malignant, 5 25
1108 c MLN051 Melanoma, Cutaneous Malignant, 6 24
1109 c MLN055 Melanoma, Cutaneous Malignant 10 21
1110 c PT1001 Pot1-Related Susceptibility to Cutaneous Malignant Melanoma 11
1111 c CDK002 Cdk4-Related Cutaneous Malignant Melanoma 8
1112 c CDK004 Cdkn2a-Related Cutaneous Malignant Melanoma 8
1113 c MC1001 Mc1r-Related Cutaneous Malignant Melanoma 8
1114 c MTF002 Mitf-Related Susceptibility to Cutaneous Malignant Melanoma 8
1115 c TRT016 Tert-Related Cutaneous Malignant Melanoma 8
1116 c XRC001 Xrcc3-Related Cutaneous Malignant Melanoma 8
1117 MCK007 Muckle-Wells Syndrome 63
1118 DNR002 Duane-Radial Ray Syndrome 49
1119 c ALP073 Alport Syndrome, Autosomal Recessive 45
1120 GDP001 Goodpasture Syndrome 49
1121 P HML001 Hemolytic-Uremic Syndrome 49
1122 HPT014 Hepatorenal Syndrome 45
1123 MRC004 Murcs Association 31
1124 MLL009 Mullerian Aplasia 19
1125 FTZ004 Fitzsimmons Walson Mellor Syndrome 6
1126 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1127 SMT004 Smith-Lemli-Opitz Syndrome 69
1128 3MC003 3mc Syndrome 41
1129 LYM029 Lymphedema-Distichiasis Syndrome 41
1130 DNN002 Donnai-Barrow Syndrome 38
1131 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 28
1132 c RNL034 Renal Cell Carcinoma 4 22
1133 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 20
1134 KDN010 Kidney Osteogenic Sarcoma 18
1135 SNT001 Santos Mateus Leal Syndrome 6
1136 WLS001 Wilson Disease 73
1137 SCK003 Sickle Cell Anemia 71
1138 P NNN008 Noonan Syndrome 1 68
1139 P VLC001 Velocardiofacial Syndrome 64
1140 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62
1141 P SYS005 Systemic Scleroderma 61
1142 P SRC025 Sarcoidosis 1 61
1143 c GLY008 Glycogen Storage Disease Ii 61
1144 P TMP003 Temporal Arteritis 61
1145 P FML161 Familial Mediterranean Fever, Ar 61
1146 MXD005 Mixed Connective Tissue Disease 61
1147 c LCL006 Localized Scleroderma 60
1148 P DRM010 Dermatomyositis 59
1149 P GLY013 Glycogen Storage Disease 59
1150 DBT087 Diabetes Insipidus, Neurohypophyseal 59
1151 THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58
1152 P HYP192 Hypocalcemia, Autosomal Dominant 58
1153 P THR005 Thrombotic Thrombocytopenic Purpura 57
1154 c GLY060 Glycogen Storage Disease Ia 55
1155 NLP001 Nail-Patella Syndrome 55
1156 c TYR012 Tyrosinemia, Type I 55
1157 CPR001 Coproporphyria 54
1158 c GLY007 Glycogen Storage Disease Iv 54
1159 HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53
1160 RYN003 Reynolds Syndrome 51
1161 CDL003 Caudal Regression Syndrome 50
1162 c GLY019 Glycogen Storage Disease Iiia 50
1163 ALD010 Aldosteronism, Glucocorticoid-Remediable 48
1164 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1165 c ORF037 Orofaciodigital Syndrome I 48
1166 RGH009 Right Atrial Isomerism 48
1167 c GLY005 Glycogen Storage Disease Vi 48
1168 c HYP726 Hypercalcemia, Infantile, 1 47
1169 c GLY011 Glycogen Storage Disease Vii 47
1170 OLV001 Olivopontocerebellar Atrophy 47
1171 c TYR013 Tyrosinemia, Type Ii 47
1172 LMT001 Limited Scleroderma 46
1173 P ORF001 Orofaciodigital Syndrome 45
1174 P TYR004 Tyrosinemia 44
1175 c ORF040 Orofaciodigital Syndrome Viii 43
1176 CHL028 Childhood Type Dermatomyositis 43
1177 c ORF034 Orofaciodigital Syndrome Vi 42
1178 P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 42
1179 c TYR011 Tyrosinemia, Type Iii 41
1180 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 39
1181 c GLY016 Glycogen Storage Disease Ib 39
1182 c NNN010 Noonan Syndrome 3 38
1183 c NNN012 Noonan Syndrome 5 37
1184 c ADL027 Adult Dermatomyositis 37
1185 c SRC023 Sarcoidosis 2 36
1186 HYP193 Hypocomplementemic Urticarial Vasculitis 34
1187 c NNN011 Noonan Syndrome 4 33
1188 c GLY057 Glycogen Storage Disease X 33
1189 c GLY023 Glycogen Storage Disease Type 0 33
1190 c RBN021 Rubinstein-Taybi Syndrome 1 32
1191 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1192 c NNN013 Noonan Syndrome 6 31
1193 c GLY044 Glycogen Storage Disease Ixc 31
1194 c NNN025 Noonan Syndrome 10 31
1195 c GLY042 Glycogen Storage Disease Xi 30
1196 c SCL052 Scleroderma, Familial Progressive 29
1197 c NNN021 Noonan Syndrome 8 29
1198 c NNN020 Noonan Syndrome 7 28
1199 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 27
1200 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
1201 c NNN024 Noonan Syndrome 9 27
1202 c ORF035 Orofaciodigital Syndrome Iv 26
1203 c GLY009 Glycogen Storage Disease Xv 26
1204 P GLM015 Glomerulopathy with Fibronectin Deposits 2 26
1205 c HYP564 Hypocalcemia, Autosomal Dominant 2 25
1206 c JVN019 Juvenile Temporal Arteritis 25
1207 c GLY017 Glycogen Storage Disease Ic 25
1208 c ORF036 Orofaciodigital Syndrome Xiv 24
1209 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 24
1210 c ORF033 Orofaciodigital Syndrome V 24
1211 c PTP002 Ptpn11-Related Noonan Syndrome 24
1212 c GLY059 Glycogen Storage Disease Xiii 24
1213 c GLY043 Glycogen Storage Disease Xii 23
1214 IMM053 Immunotactoid Glomerulopathy 23
1215 c ORF041 Orofaciodigital Syndrome X 23
1216 c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 22
1217 c FML162 Familial Mediterranean Fever, Ad 22
1218 c ORF038 Orofaciodigital Syndrome Iii 22
1219 c ORF043 Orofaciodigital Syndrome Ix 21
1220 c NNN009 Noonan Syndrome 2 20
1221 c HYP712 Hypercalcemia, Infantile, 2 20
1222 c GLY006 Glycogen Storage Disease Viii 20
1223 c ORF042 Orofaciodigital Syndrome Xi 19
1224 NRF010 Neurofaciodigitorenal Syndrome 19
1225 c ORF045 Orofaciodigital Syndrome Xv 19
1226 c SRC024 Sarcoidosis 3 19
1227 c GLM014 Glomerulopathy with Fibronectin Deposits 1 16
1228 c ORF046 Orofaciodigital Syndrome Xvi 16
1229 P HYP237 Hypercalcemia, Infantile 15
1230 c GLY093 Glycogen Storage Disease Ixa 14
1231 c VLC003 Velocardiofacial Syndrome 2 13
1232 c ORF006 Orofaciodigital Syndrome 13 13
1233 c GLY001 Glycogen Storage Disease Ix 13
1234 c ORF005 Orofaciodigital Syndrome 12 12
1235 c ATS125 Autosomal Recessive Infantile Hypercalcemia 12
1236 c FML136 Familial Mediterranean Fever Type 1 10
1237 c FML137 Familial Mediterranean Fever Type 2 10
1238 c ORF039 Orofaciodigital Syndrome Vii 9
1239 c BRF003 Braf-Related Noonan Syndrome 8
1240 c KRS004 Kras-Related Noonan Syndrome 8
1241 c LZT002 Lztr1-Related Noonan Syndrome 8
1242 c NRS004 Nras-Related Noonan Syndrome 8
1243 c RF1002 Raf1-Related Noonan Syndrome 8
1244 c RT1001 Rit1-Related Noonan Syndrome 8
1245 c SS1001 Sos1-Related Noonan Syndrome 8
1246 c SS2001 Sos2-Related Noonan Syndrome 8
1247 c SDH002 Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 8
1248 c MP2002 Map2k1-Related Noonan Syndrome 6
1249 c MXR002 Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 5
1250 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1251 VSC006 Vascular Cancer 52
1252 P NRF018 Neurofibromatosis, Type 1 78
1253 VNH007 Von Hippel-Lindau Syndrome 70
1254 P PRP003 Porphyria Cutanea Tarda 64
1255 P ALG028 Alagille Syndrome 1 63
1256 LSC001 Lesch-Nyhan Syndrome 62
1257 c NRF019 Neurofibromatosis, Type 2 62
1258 ADR016 Adrenal Cortical Carcinoma 60
1259 PSD014 Pseudopseudohypoparathyroidism 55
1260 c PSD067 Pseudohypoparathyroidism Ia 54
1261 BRG013 Buerger Disease 54
1262 WGR001 Wagr Syndrome 53
1263 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50
1264 HYP108 Hyperparathyroidism-Jaw Tumor Syndrome 48
1265 P HML033 Hemolytic Uremic Syndrome, Atypical 1 46
1266 c THR054 Thrombotic Thrombocytopenic Purpura, Familial 43
1267 ESN020 Eosinophilic Granulomatosis with Polyangiitis 43
1268 HYP550 Hypomagnesemia 1, Intestinal 38
1269 P CRY007 Cryoglobulinemia, Familial Mixed 37
1270 IMM073 Immunoglobulin a Vasculitis 33
1271 HYP249 Hyperthyroidism, Nonautoimmune 27
1272 SSM001 Sesame Syndrome 54
1273 RHB001 Rhabdoid Cancer 53



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