# |
Family |
MCID |
Name |
MIFTS |
1 |
P
|
BLD134 |
Bladder Cancer |
79 |
2 |
P
|
MPL001 |
Maple Syrup Urine Disease |
69 |
3 |
|
NPH098 |
Nephrolithiasis, X-Linked Recessive, with Renal Failure |
41 |
4 |
|
NRG002 |
Neurogenic Bladder |
55 |
5 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
41 |
6 |
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
7 |
P
|
IGN003 |
Iga Nephropathy 1 |
49 |
8 |
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
9 |
|
RNL051 |
Renal Cysts and Diabetes Syndrome |
55 |
10 |
P
|
CNG499 |
Congenital Anomalies of Kidney and Urinary Tract 2 |
52 |
11 |
|
DBT092 |
Diabetes Insipidus, Nephrogenic, X-Linked |
38 |
12 |
c
|
CNG509 |
Congenital Anomalies of Kidney and Urinary Tract 1 |
29 |
13 |
c
|
WLM018 |
Wilms Tumor 5 |
61 |
14 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
29 |
15 |
c
|
WLM005 |
Wilms Tumor 2 |
28 |
16 |
P
|
HYP658 |
Hypoplastic Amelogenesis Imperfecta |
25 |
17 |
c
|
WLM017 |
Wilms Tumor 4 |
19 |
18 |
c
|
WLM015 |
Wilms Tumor 3 |
18 |
19 |
c
|
AML006 |
Amelogenesis Imperfecta Hypoplastic Type, Ig |
18 |
20 |
|
BLD169 |
Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut |
17 |
21 |
c
|
FML094 |
Familial Wilms Tumor 2 |
9 |
22 |
|
BLD029 |
Bladder Dome Cancer |
9 |
23 |
|
SML031 |
Small Cell Carcinoma of the Bladder |
46 |
24 |
|
CNG116 |
Congenital Nephrotic Syndrome Finnish Type |
18 |
25 |
|
SPR001 |
Superficial Urinary Bladder Cancer |
22 |
26 |
|
TSY002 |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations |
45 |
27 |
|
LWC001 |
Low Compliance Bladder |
43 |
28 |
c
|
HYP302 |
Hypomagnesemia 4, Renal |
36 |
29 |
|
BLD049 |
Bladder Transitional Cell Papilloma |
34 |
30 |
|
NPH002 |
Nephrogenic Adenoma of Urinary Bladder |
23 |
31 |
|
URN001 |
Urinary Bladder Small Cell Neuroendocrine Carcinoma |
20 |
32 |
|
BLD026 |
Bladder Trigone Cancer |
6 |
33 |
c
|
HYP376 |
Hypouricemia, Renal, 2 |
27 |
34 |
|
BLD047 |
Bladder Squamous Cell Carcinoma |
31 |
35 |
c
|
BLD008 |
Bladder Carcinoma in Situ |
28 |
36 |
P
|
RNL017 |
Renal Oncocytoma |
53 |
37 |
|
HNT019 |
Hantavirus Hemorrhagic Fever with Renal Syndrome |
44 |
38 |
|
RNL018 |
Renal Pelvis Carcinoma |
30 |
39 |
|
URN022 |
Urinary Tract Infections, Recurrent |
27 |
40 |
c
|
HYP445 |
Hypomagnesemia 6, Renal |
22 |
41 |
c
|
FCL082 |
Focal Segmental Glomerulosclerosis 4 |
22 |
42 |
|
URN005 |
Urinary Bladder Villous Adenoma |
21 |
43 |
|
RNL005 |
Renal Wilms' Tumor |
21 |
44 |
|
SLC024 |
Slc4a1-Associated Distal Renal Tubular Acidosis |
19 |
45 |
|
JWT001 |
Jewett-Marshall Bladder Cancer |
6 |
46 |
|
BNR003 |
Ben Ari Shuper Mimouni Syndrome |
5 |
47 |
|
URN003 |
Urinary Schistosomiasis |
46 |
48 |
c
|
MCR112 |
Microvascular Complications of Diabetes 2 |
41 |
49 |
|
DHY010 |
Dihydrolipoamide Dehydrogenase Deficiency |
41 |
50 |
|
BLD025 |
Bladder Sarcoma |
29 |
51 |
|
TRT015 |
Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia |
21 |
52 |
|
GTR012 |
Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies |
18 |
53 |
|
NPH023 |
Nephropathy, Deafness, and Hyperparathyroidism |
18 |
54 |
|
CHL032 |
Childhood Multilocular Cystic Kidney Neoplasm |
8 |
55 |
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
56 |
c
|
BRN131 |
Branchiootorenal Syndrome 1 |
44 |
57 |
P
|
FML284 |
Familial Vesicoureteral Reflux |
27 |
58 |
|
URN011 |
Urinary Tract Papillary Transitional Cell Benign Neoplasm |
27 |
59 |
c
|
BKV001 |
Bk-Virus Nephropathy |
24 |
60 |
|
URN004 |
Urinary Bladder Inverted Papilloma |
20 |
61 |
|
BLD046 |
Bladder Papillary Transitional Cell Neoplasm |
20 |
62 |
|
BLD003 |
Bladder Lateral Wall Cancer |
19 |
63 |
c
|
ATS311 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related |
18 |
64 |
c
|
VSC043 |
Vesicoureteral Reflux 6 |
14 |
65 |
|
SPH021 |
Sphingosine Phosphate Lyase Insufficiency Syndrome |
13 |
66 |
c
|
VSC042 |
Vesicoureteral Reflux 5 |
12 |
67 |
c
|
VSC040 |
Vesicoureteral Reflux 4 |
12 |
68 |
c
|
VSC041 |
Vesicoureteral Reflux 7 |
12 |
69 |
|
BLD027 |
Bladder Neck Cancer |
10 |
70 |
c
|
URN006 |
Urinary Bladder Posterior Wall Cancer |
5 |
71 |
P
|
URN007 |
Urinary Bladder Anterior Wall Cancer |
5 |
72 |
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
73 |
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
74 |
|
DCR008 |
Dicarboxylic Aminoaciduria |
43 |
75 |
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
76 |
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
77 |
c
|
ART063 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 |
35 |
78 |
|
CNG495 |
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay |
26 |
79 |
|
BLD023 |
Bladder Leiomyoma |
21 |
80 |
c
|
NPH111 |
Nephrotic Syndrome, Type 21 |
20 |
81 |
|
CYS010 |
Cystinosis |
59 |
82 |
P
|
RNL015 |
Renal Hypertension |
47 |
83 |
|
CYS045 |
Cystinosis, Adult Nonnephropathic |
31 |
84 |
|
NPH001 |
Nephrogenic Adenoma |
30 |
85 |
|
RNL019 |
Renal Pelvis Transitional Cell Carcinoma |
28 |
86 |
|
BLD028 |
Bladder Lymphoma |
27 |
87 |
|
RNL008 |
Renal Artery Atheroma |
24 |
88 |
c
|
RNL099 |
Renal Hypodysplasia/aplasia 2 |
20 |
89 |
|
BLD065 |
Blue Diaper Syndrome |
20 |
90 |
|
RDL030 |
Radial-Renal Syndrome |
18 |
91 |
c
|
RNL117 |
Renal Tubular Acidosis Iii |
16 |
92 |
|
BRC111 |
Brachymesomelia-Renal Syndrome |
15 |
93 |
P
|
BNG003 |
Benign Hypertensive Renal Disease |
9 |
94 |
|
BLD022 |
Bladder Flat Intraepithelial Lesion |
6 |
95 |
c
|
MCR129 |
Microvascular Complications of Diabetes 1 |
66 |
96 |
|
NPH018 |
Nephrogenic Systemic Fibrosis |
50 |
97 |
|
NPH010 |
Nephrosclerosis |
50 |
98 |
|
IMN001 |
Iminoglycinuria |
45 |
99 |
P
|
FNC034 |
Fanconi Renotubular Syndrome 2 |
40 |
100 |
c
|
FNC026 |
Fanconi Renotubular Syndrome 1 |
39 |
101 |
P
|
VRT014 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 |
24 |
102 |
c
|
IGN004 |
Iga Nephropathy 3 |
23 |
103 |
c
|
HYP718 |
Hyperuricemic Nephropathy, Familial Juvenile, 4 |
20 |
104 |
c
|
FNC049 |
Fanconi Renotubular Syndrome 3 |
19 |
105 |
c
|
VRT015 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 |
19 |
106 |
c
|
FNC066 |
Fanconi Renotubular Syndrome 5 |
10 |
107 |
c
|
PRG011 |
Progressive Myoclonus Epilepsy |
42 |
108 |
|
HYP348 |
Hyperglycinuria |
41 |
109 |
P
|
MYC026 |
Myoclonus Epilepsy |
35 |
110 |
|
PNT006 |
Pentosuria |
33 |
111 |
c
|
RNL092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
33 |
112 |
c
|
BRN086 |
Branchiootorenal Syndrome 2 |
32 |
113 |
c
|
PRG140 |
Progressive Myoclonus Epilepsy 4 |
28 |
114 |
|
ACR102 |
Acrorenal-Mandibular Syndrome |
28 |
115 |
c
|
PRG147 |
Progressive Myoclonus Epilepsy 8 |
26 |
116 |
|
MDF002 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis |
23 |
117 |
c
|
PRG142 |
Progressive Myoclonus Epilepsy 3 |
21 |
118 |
|
BTM003 |
Beta-Aminoisobutyric Aciduria |
20 |
119 |
c
|
PRG146 |
Progressive Myoclonus Epilepsy 9 |
19 |
120 |
c
|
PRG145 |
Progressive Myoclonus Epilepsy 6 |
19 |
121 |
c
|
PRG141 |
Progressive Myoclonus Epilepsy 10 |
17 |
122 |
c
|
PRG148 |
Progressive Myoclonus Epilepsy 1a |
17 |
123 |
c
|
PRG143 |
Progressive Myoclonus Epilepsy 7 |
16 |
124 |
c
|
PRG144 |
Progressive Myoclonus Epilepsy 1b |
12 |
125 |
c
|
RNR002 |
Ren-Related Kidney Disease |
8 |
126 |
P
|
GLL020 |
Gallbladder Disease |
57 |
127 |
|
URN010 |
Urinary Tract Obstruction |
55 |
128 |
c
|
GLL024 |
Gallbladder Disease 1 |
53 |
129 |
|
HYP114 |
Hypertensive Nephropathy |
35 |
130 |
|
RNL013 |
Renal Adenoma |
31 |
131 |
|
SCN001 |
Secondary Hyperparathyroidism of Renal Origin |
27 |
132 |
c
|
HRD219 |
Hereditary Distal Renal Tubular Acidosis |
27 |
133 |
|
PLY179 |
Polyomavirus-Associated Nephropathy |
24 |
134 |
|
WBB001 |
Webb-Dattani Syndrome |
23 |
135 |
|
SPL057 |
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
23 |
136 |
c
|
URF002 |
Urofacial Syndrome 2 |
22 |
137 |
|
NPH008 |
Nephrogenic Adenoma of the Urethra |
22 |
138 |
|
EPT005 |
Epithelial Predominant Wilms' Tumor |
21 |
139 |
c
|
IGN002 |
Iga Nephropathy 2 |
20 |
140 |
|
DBL008 |
Double Uterus-Hemivagina-Renal Agenesis |
17 |
141 |
|
PHT013 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction |
17 |
142 |
|
ERY007 |
Erythropoietin Polycythemia |
16 |
143 |
c
|
GLL027 |
Gallbladder Disease 4 |
15 |
144 |
|
HST019 |
Histidinuria Due to a Renal Tubular Defect |
15 |
145 |
|
BLR029 |
Biliary Malformation with Renal Tubular Insufficiency |
14 |
146 |
|
BLS005 |
Blastema Predominant Kidney Wilms' Tumor |
13 |
147 |
|
PLY043 |
Polyomavirus Allograft Nephropathy |
13 |
148 |
|
NNN004 |
Non-Invasive Bladder Urothelial Carcinoma |
12 |
149 |
c
|
GLL026 |
Gallbladder Disease 3 |
12 |
150 |
|
BTM002 |
Beta-Amino Acids, Renal Transport of |
12 |
151 |
|
STR009 |
Stromal Predominant Kidney Wilms' Tumor |
12 |
152 |
|
TRN058 |
Transitional Cell Cancer of the Renal Pelvis and Ureter |
12 |
153 |
c
|
GLL025 |
Gallbladder Disease 2 |
12 |
154 |
|
MXD009 |
Mixed Cell Type Kidney Wilms' Tumor |
11 |
155 |
|
NPH025 |
Nephrotic Syndrome Ocular Anomalies |
8 |
156 |
|
GRN023 |
Green Sandford Davison Syndrome |
7 |
157 |
|
STN004 |
Stone in Bladder Diverticulum |
6 |
158 |
|
HST012 |
Histidinuria Renal Tubular Defect |
6 |
159 |
|
INB002 |
Inborn Renal Aminoaciduria |
6 |
160 |
|
RNL121 |
Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies |
5 |
161 |
|
BLD011 |
Bladder Verrucous Squamous Cell Carcinoma |
5 |
162 |
|
CLR016 |
Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
163 |
|
MCR006 |
Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
164 |
|
LPD005 |
Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
165 |
|
PLS004 |
Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
166 |
|
NST001 |
Nested Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
167 |
|
NNT002 |
Neonatal Urinary Tract Infectious Disease |
5 |
168 |
|
RDR001 |
Radio Renal Syndrome |
4 |
169 |
|
NNR001 |
Non-Renal Secondary Hyperparathyroidism |
4 |
170 |
|
GNT076 |
Genetic Renal or Urinary Tract Malformation |
2 |
171 |
|
GNT143 |
Genetic Non-Syndromic Renal or Urinary Tract Malformation |
2 |
172 |
P
|
MCR115 |
Microvascular Complications of Diabetes 5 |
66 |
173 |
|
HST006 |
Histidinemia |
48 |
174 |
c
|
JBR004 |
Joubert Syndrome 2 |
48 |
175 |
|
MTC085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
44 |
176 |
|
URT031 |
Ureteral Disease |
41 |
177 |
|
RTR011 |
Retroperitoneal Fibrosis |
40 |
178 |
|
HYD030 |
Hydroxykynureninuria |
27 |
179 |
c
|
RNL095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
26 |
180 |
P
|
C1Q005 |
C1q Nephropathy |
22 |
181 |
|
BLD040 |
Bladder Benign Neoplasm |
19 |
182 |
|
LKN027 |
Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate |
18 |
183 |
|
MPL011 |
Maple Syrup Urine Disease, Mild Variant |
18 |
184 |
c
|
CNG540 |
Congenital Anomalies of Kidney and Urinary Tract 3 |
16 |
185 |
|
ACT006 |
Acute Gonococcal Cystitis |
10 |
186 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
187 |
c
|
JBR011 |
Joubert Syndrome 7 |
46 |
188 |
|
KDN015 |
Kidney Angiomyolipoma |
45 |
189 |
|
CYS019 |
Cystathioninuria |
45 |
190 |
|
VCT001 |
Vacterl Association |
43 |
191 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
40 |
192 |
|
PYR004 |
Pyuria |
40 |
193 |
|
GLT014 |
Glutathionuria |
39 |
194 |
|
CLC011 |
Cloacal Exstrophy |
37 |
195 |
c
|
WLM011 |
Wilms Tumor 6 |
37 |
196 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
35 |
197 |
|
CNZ009 |
Coenzyme Q10 Deficiency, Primary, 5 |
35 |
198 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
34 |
199 |
c
|
CRN111 |
Cranioectodermal Dysplasia 4 |
31 |
200 |
|
PLV001 |
Pelvic Lipomatosis |
30 |
201 |
c
|
MDL021 |
Medullary Cystic Kidney Disease 2 |
27 |
202 |
c
|
CRN110 |
Cranioectodermal Dysplasia 3 |
27 |
203 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
27 |
204 |
c
|
VSC020 |
Vesicoureteral Reflux 2 |
25 |
205 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
206 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
24 |
207 |
|
BRN121 |
Branchiootorenal/branchiootic Syndrome |
24 |
208 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
24 |
209 |
c
|
VSC046 |
Vesicoureteral Reflux 8 |
23 |
210 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
23 |
211 |
c
|
LTH042 |
Lethal Congenital Contracture Syndrome 10 |
23 |
212 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
23 |
213 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
22 |
214 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
21 |
215 |
c
|
VSC025 |
Vesicoureteral Reflux 3 |
21 |
216 |
|
STR095 |
Structural Heart Defects and Renal Anomalies Syndrome |
19 |
217 |
c
|
VRT017 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 |
16 |
218 |
|
LCH006 |
Lachiewicz Sibley Syndrome |
6 |
219 |
P
|
CTS001 |
Cutis Laxa |
65 |
220 |
|
QFV001 |
Q Fever |
60 |
221 |
P
|
HYP726 |
Hypercalcemia, Infantile, 1 |
58 |
222 |
|
SPT004 |
Septic Arthritis |
58 |
223 |
P
|
TMR010 |
Tumor Predisposition Syndrome |
56 |
224 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
55 |
225 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
53 |
226 |
|
INV006 |
Inverted Papilloma |
52 |
227 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
51 |
228 |
c
|
3MT015 |
3-Methylglutaconic Aciduria, Type I |
51 |
229 |
|
HNT002 |
Hantavirus Pulmonary Syndrome |
50 |
230 |
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
231 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
46 |
232 |
c
|
MLT126 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
45 |
233 |
|
HMR023 |
Hemorrhagic Cystitis |
45 |
234 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
235 |
c
|
3MT014 |
3-Methylglutaconic Aciduria, Type V |
45 |
236 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
45 |
237 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
44 |
238 |
c
|
ORT011 |
Orthostatic Hypotension 1 |
44 |
239 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
43 |
240 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
43 |
241 |
c
|
3MT024 |
3-Methylglutaconic Aciduria, Type Vii |
42 |
242 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
40 |
243 |
|
FML031 |
Female Stress Incontinence |
39 |
244 |
|
HLZ001 |
Holzgreve Syndrome |
38 |
245 |
P
|
MLT140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
38 |
246 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
38 |
247 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
38 |
248 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
38 |
249 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
250 |
c
|
3MT019 |
3-Methylglutaconic Aciduria, Type Iv |
36 |
251 |
c
|
3MT007 |
3-Methylglutaconic Aciduria |
36 |
252 |
|
DFF021 |
Diffuse Mesangial Sclerosis |
35 |
253 |
P
|
HRD020 |
Hereditary Renal Cell Carcinoma |
34 |
254 |
|
TFR002 |
Tafro Syndrome |
34 |
255 |
|
MLK004 |
Malakoplakia |
33 |
256 |
c
|
MYG007 |
Myoglobinuria, Recurrent |
33 |
257 |
c
|
ATS015 |
Autosomal Dominant Alport Syndrome |
31 |
258 |
|
RNL001 |
Renal Artery Obstruction |
31 |
259 |
|
5XP001 |
5-Oxoprolinase Deficiency |
31 |
260 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
30 |
261 |
|
HMR046 |
Hemorrhagic Fever-Renal Syndrome |
29 |
262 |
c
|
3MT021 |
3-Methylglutaconic Aciduria, Type Viii |
28 |
263 |
c
|
ORT012 |
Orthostatic Hypotension 2 |
26 |
264 |
c
|
FCL027 |
Focal Segmental Glomerulosclerosis 3 |
26 |
265 |
c
|
ACQ027 |
Acquired Cutis Laxa |
25 |
266 |
P
|
PRM227 |
Primary Orthostatic Hypotension |
25 |
267 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
268 |
c
|
SNR016 |
Senior-Loken Syndrome 9 |
24 |
269 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
24 |
270 |
c
|
SNR005 |
Senior-Loken Syndrome 5 |
24 |
271 |
c
|
ATS451 |
Autosomal Recessive Cutis Laxa Type 2 |
24 |
272 |
c
|
3MT023 |
3-Methylglutaconic Aciduria, Type Ix |
23 |
273 |
|
LMY010 |
Leiomyomatosis, Diffuse, with Alport Syndrome |
23 |
274 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
23 |
275 |
c
|
INT262 |
Intermediate Maple Syrup Urine Disease |
23 |
276 |
P
|
RTN220 |
Retinal Ciliopathy |
22 |
277 |
|
NPH006 |
Nephrogenic Adenofibroma |
21 |
278 |
c
|
FHT001 |
Fh Tumor Predisposition Syndrome |
21 |
279 |
|
CLL007 |
Cellular Congenital Mesoblastic Nephroma |
20 |
280 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
20 |
281 |
|
VSC014 |
Vascular Hyalinosis |
20 |
282 |
|
MLY011 |
Maleylacetoacetate Isomerase Deficiency |
19 |
283 |
|
KDN004 |
Kidney Hemangiopericytoma |
19 |
284 |
|
VLN001 |
Valinemia |
19 |
285 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
19 |
286 |
|
NPH097 |
Nephrosialidosis |
18 |
287 |
|
MGB001 |
Megabladder, Congenital |
18 |
288 |
|
ESN003 |
Eosinophilic Variant of Chromophobe Renal Cell Carcinoma |
18 |
289 |
|
GLM024 |
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria |
18 |
290 |
|
LNP001 |
Loin Pain Hematuria Syndrome |
18 |
291 |
P
|
HRD221 |
Hereditary Nephrogenic Diabetes Insipidus |
17 |
292 |
c
|
HYP529 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
17 |
293 |
c
|
RNL034 |
Renal Cell Carcinoma 4 |
16 |
294 |
|
PX2001 |
Pax2-Related Disorder |
16 |
295 |
|
MTH075 |
Methionine Malabsorption Syndrome |
15 |
296 |
|
CTR151 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
13 |
297 |
|
CHR645 |
Chromosome 8q12.1-Q21.2 Deletion Syndrome |
13 |
298 |
|
NPH050 |
Nephropathy, Progressive, with Deafness |
13 |
299 |
|
RNL111 |
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia |
13 |
300 |
|
CHN073 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
12 |
301 |
|
RNL116 |
Renal and Mullerian Duct Hypoplasia |
12 |
302 |
c
|
RTN226 |
Retinal Ciliopathy Due to Mutation in Usher Gene |
11 |
303 |
|
NPH100 |
Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease |
11 |
304 |
|
CHL044 |
Childhood Kidney Angiomyolipoma |
10 |
305 |
|
HYP787 |
Hypophosphatemia, Renal, with Intracerebral Calcifications |
10 |
306 |
|
KLL010 |
Kallikrein, Decreased Urinary Activity of |
9 |
307 |
|
MSN012 |
Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities |
9 |
308 |
|
NDL023 |
Noduli Cutanei, Multiple, with Urinary Tract Abnormalities |
9 |
309 |
|
CLS004 |
Classic Congenital Mesoblastic Nephroma |
9 |
310 |
c
|
RTN223 |
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene |
9 |
311 |
|
RNL010 |
Renal Pelvis Inverted Papilloma |
8 |
312 |
|
VCT003 |
Vacterl Hydrocephaly |
8 |
313 |
|
URL004 |
Urolithiasis, Uric Acid, Autosomal Dominant |
8 |
314 |
|
PLV019 |
Pelvic Lipomatosis with Crossed Renal Ectopia |
8 |
315 |
|
HRD003 |
Hereditary Conventional Renal Cell Carcinoma |
7 |
316 |
c
|
RNL048 |
Renal Tubular Acidosis, Distal, Type 3 |
7 |
317 |
|
SLG001 |
Selig Benacerraf Greene Syndrome |
6 |
318 |
|
BLD024 |
Bladder Squamous Papilloma |
6 |
319 |
|
RNL050 |
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna |
6 |
320 |
|
JJN005 |
Jejunal Atresia with Renal Adysplasia |
6 |
321 |
|
FRS005 |
Fraser Jequier Chen Syndrome |
6 |
322 |
c
|
MLG004 |
Malignant Hypertensive Renal Disease |
5 |
323 |
|
ACR045 |
Acro-Pectoro-Renal Field Defect |
5 |
324 |
|
RDC015 |
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction |
5 |
325 |
|
NPH099 |
Nephropathy, Chronic Tubulointerstitial |
5 |
326 |
|
ULN026 |
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia |
5 |
327 |
|
NRX002 |
Neuroaxonal Dystrophy Renal Tubular Acidosis |
4 |
328 |
|
EPT027 |
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract |
4 |
329 |
|
RNL020 |
Renal Pelvis Urothelial Papilloma |
4 |
330 |
c
|
BLT012 |
Bilateral Renal Agenesis Dominant Type |
4 |
331 |
|
RRG073 |
Rare Genetic Renal Disease |
4 |
332 |
|
CLS003 |
Classic Variant of Chromophobe Renal Cell Carcinoma |
4 |
333 |
|
GLY095 |
Glycoprotein, Renal |
4 |
334 |
|
PLM171 |
Pulmonic Stenosis and Congenital Nephrosis |
4 |
335 |
|
RNL124 |
Renal Disease with Cataract |
3 |
336 |
|
ALL011 |
Allain-Babin-Demarquez Syndrome |
3 |
337 |
|
BLL008 |
Billet Bear Syndrome |
2 |
338 |
|
GNT063 |
Genetic Renal Tubular Disease |
2 |
339 |
|
GNT064 |
Genetic Renal Tumor |
2 |
340 |
|
NPH109 |
Nephropathy-Associated Ciliopathy |
2 |
341 |
c
|
RTN221 |
Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene |
2 |
342 |
c
|
RTN222 |
Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene |
2 |
343 |
c
|
RTN224 |
Retinal Ciliopathy Due to Mutation in the Rpgr Gene |
2 |
344 |
c
|
RTN225 |
Retinal Ciliopathy Due to Mutation in the Rpgrip Gene |
2 |
345 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
346 |
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
65 |
347 |
|
ALS001 |
Alstrom Syndrome |
64 |
348 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
62 |
349 |
c
|
PRT132 |
Protoporphyria, Erythropoietic, 1 |
61 |
350 |
|
HYD002 |
Hydronephrosis |
60 |
351 |
P
|
PRX003 |
Paroxysmal Nocturnal Hemoglobinuria |
60 |
352 |
|
CPR004 |
Coproporphyria, Hereditary |
57 |
353 |
P
|
PYL005 |
Pyelonephritis |
56 |
354 |
|
PRP082 |
Porphyria, Congenital Erythropoietic |
56 |
355 |
P
|
DBT005 |
Diabetes Insipidus |
55 |
356 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
53 |
357 |
|
SCR020 |
Sacral Defect with Anterior Meningocele |
52 |
358 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
52 |
359 |
|
MTH078 |
Methylmalonic Aciduria, Cblb Type |
51 |
360 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
51 |
361 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
50 |
362 |
|
URT001 |
Urethritis |
49 |
363 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
49 |
364 |
|
BCT004 |
Bacteriuria |
49 |
365 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
48 |
366 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
47 |
367 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
46 |
368 |
c
|
BRT050 |
Bartter Syndrome, Type 2, Antenatal |
46 |
369 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
46 |
370 |
c
|
ACT042 |
Acute Pyelonephritis |
46 |
371 |
c
|
NPH102 |
Nephrotic Syndrome, Type 14 |
44 |
372 |
P
|
PRL003 |
Proliferative Glomerulonephritis |
44 |
373 |
|
URT014 |
Ureterolithiasis |
44 |
374 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
44 |
375 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
43 |
376 |
c
|
BRT052 |
Bartter Syndrome, Type 1, Antenatal |
43 |
377 |
|
URT037 |
Urethral Stricture |
43 |
378 |
|
CRS001 |
Crescentic Glomerulonephritis |
43 |
379 |
P
|
HYP347 |
Hypotonia-Cystinuria Syndrome |
43 |
380 |
c
|
ALP105 |
Alport Syndrome 2, Autosomal Recessive |
43 |
381 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
42 |
382 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
41 |
383 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
40 |
384 |
|
PYL004 |
Pyelitis |
40 |
385 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
39 |
386 |
P
|
XNT004 |
Xanthinuria |
39 |
387 |
c
|
ACT079 |
Acute Proliferative Glomerulonephritis |
39 |
388 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
38 |
389 |
c
|
CHR098 |
Chronic Pyelonephritis |
38 |
390 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
37 |
391 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
37 |
392 |
P
|
ANT061 |
Antenatal Bartter Syndrome |
37 |
393 |
|
GLM044 |
Glomerular Disease |
37 |
394 |
c
|
CHR020 |
Chronic Interstitial Cystitis |
37 |
395 |
|
DNS007 |
Dense Deposit Disease |
37 |
396 |
|
URT020 |
Ureterocele |
37 |
397 |
|
MTN001 |
Metanephric Adenoma |
37 |
398 |
|
ACT040 |
Acute Poststreptococcal Glomerulonephritis |
36 |
399 |
|
DBT022 |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism |
35 |
400 |
|
HRS011 |
Horseshoe Kidney |
34 |
401 |
|
PRN007 |
Perinephritis |
33 |
402 |
|
KDN013 |
Kidney Hypertrophy |
32 |
403 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
32 |
404 |
|
RDT001 |
Radiation Cystitis |
32 |
405 |
c
|
HRD142 |
Hereditary Xanthinuria |
31 |
406 |
c
|
PRX094 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
31 |
407 |
|
URT016 |
Urethral Diverticulum |
30 |
408 |
c
|
FCL055 |
Focal Segmental Glomerulosclerosis 9 |
30 |
409 |
c
|
PRP091 |
Porphyria Cutanea Tarda, Type I |
29 |
410 |
|
OSC001 |
Oeis Complex |
29 |
411 |
|
TRG001 |
Trigonitis |
29 |
412 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
29 |
413 |
|
TBL025 |
Tubulointerstitial Nephritis with Uveitis |
28 |
414 |
|
XNT001 |
Xanthogranulomatous Pyelonephritis |
28 |
415 |
|
CYS003 |
Cystitis Cystica |
28 |
416 |
|
URT011 |
Urethral Calculus |
28 |
417 |
|
OMS001 |
Omsk Hemorrhagic Fever |
27 |
418 |
|
DFF015 |
Diffuse Glomerulonephritis |
26 |
419 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
26 |
420 |
P
|
VCT008 |
Vacterl with Hydrocephalus |
26 |
421 |
|
STN013 |
Stenotrophomonas Maltophilia Infection |
25 |
422 |
c
|
SNR015 |
Senior-Loken Syndrome 8 |
25 |
423 |
c
|
SPS013 |
Spastic Paraplegia 8 |
25 |
424 |
|
ORT001 |
Orthostatic Proteinuria |
25 |
425 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
24 |
426 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
23 |
427 |
c
|
PRX067 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
23 |
428 |
|
PLY116 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis |
22 |
429 |
|
ACT041 |
Acute Diffuse Nephritis |
22 |
430 |
c
|
HRD156 |
Hereditary Central Diabetes Insipidus |
22 |
431 |
c
|
SBC010 |
Subacute Glomerulonephritis |
21 |
432 |
c
|
ACQ034 |
Acquired Central Diabetes Insipidus |
21 |
433 |
|
ADN090 |
Adenosylcobalamin Deficiency |
21 |
434 |
c
|
HYP712 |
Hypercalcemia, Infantile, 2 |
20 |
435 |
|
ATR053 |
Atresia of Urethra |
20 |
436 |
|
ATY045 |
Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality |
19 |
437 |
|
EXD002 |
Exudative Glomerulonephritis |
18 |
438 |
c
|
PRT135 |
Protoporphyria, Erythropoietic, 2 |
18 |
439 |
|
THY105 |
Thyrocerebroretinal Syndrome |
17 |
440 |
|
KDN025 |
Kidney Cortex Disease |
16 |
441 |
|
ISL133 |
Isolated Epispadias |
16 |
442 |
|
PYL001 |
Pyeloureteritis Cystica |
16 |
443 |
|
CMP052 |
Complication in Hemodialysis |
15 |
444 |
|
ACT215 |
Actg2-Related Disorders |
15 |
445 |
c
|
SPS029 |
Spastic Paraplegia 19 |
13 |
446 |
c
|
TRN078 |
Transient Antenatal Bartter Syndrome |
13 |
447 |
|
URC013 |
Urachal Diverticulum |
13 |
448 |
P
|
ERY016 |
Erythropoietic Protoporphyria, Autosomal Recessive |
12 |
449 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
11 |
450 |
c
|
BCK015 |
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 |
7 |
451 |
c
|
CHR021 |
Chronic Rapidly Progressive Glomerulonephritis |
7 |
452 |
c
|
HYP851 |
Hypotonia-Cystinuria Type 1 Syndrome |
5 |
453 |
|
CNG268 |
Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form |
4 |
454 |
|
CNG269 |
Congenital Primary Megaureter, Refluxing Form |
4 |
455 |
c
|
PRM147 |
Primary Megaureter, Adult-Onset Form |
4 |
456 |
|
NNC001 |
Non-Congenital Cyst of Kidney |
4 |
457 |
|
STR004 |
Stricture or Kinking of Ureter |
4 |
458 |
|
BNG089 |
Benign Metanephric Tumour |
4 |
459 |
|
SYS078 |
Systemic Disease with Glomerulopathy As a Major Feature |
4 |
460 |
|
FCL004 |
Focal Embolic Glomerulonephritis |
3 |
461 |
|
GNT183 |
Genetic Systemic Disease with Glomerulopathy As a Major Feature |
3 |
462 |
|
PRM345 |
Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability |
3 |
463 |
|
BLD039 |
Bladder Adenocarcinoma |
35 |
464 |
|
HMT008 |
Hematuria, Benign Familial |
56 |
465 |
c
|
ATS312 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
26 |
466 |
|
NNN005 |
Non-Invasive Bladder Papillary Urothelial Neoplasm |
27 |
467 |
|
BLD031 |
Bladder Signet Ring Cell Adenocarcinoma |
9 |
468 |
|
BLD043 |
Bladder Clear Cell Adenocarcinoma |
27 |
469 |
|
RNL097 |
Renal Artery Disease |
42 |
470 |
|
FML029 |
Familial Renal Papillary Carcinoma |
31 |
471 |
|
INV004 |
Invasive Bladder Transitional Cell Carcinoma |
30 |
472 |
|
HNM002 |
Hinman Syndrome |
27 |
473 |
|
INF029 |
Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant |
10 |
474 |
|
RRR008 |
Rare Urinary Tract Tumor |
6 |
475 |
|
RNL009 |
Renal Pelvis Squamous Cell Carcinoma |
24 |
476 |
|
RNL004 |
Renal Pelvis Adenocarcinoma |
21 |
477 |
|
TRN018 |
Transitional Cell Carcinoma |
56 |
478 |
|
DNR002 |
Duane-Radial Ray Syndrome |
56 |
479 |
|
CHL010 |
Childhood Kidney Cell Carcinoma |
38 |
480 |
|
SRC002 |
Sarcomatoid Renal Cell Carcinoma |
38 |
481 |
|
MLT003 |
Multilocular Clear Cell Renal Cell Carcinoma |
31 |
482 |
|
URT023 |
Ureteric Orifice Cancer |
26 |
483 |
|
CHR176 |
Chromophil Renal Cell Carcinoma |
23 |
484 |
|
KDN008 |
Kidney Pelvis Papillary Carcinoma |
14 |
485 |
|
RNL112 |
Renal, Genital, and Middle Ear Anomalies |
13 |
486 |
|
BLD010 |
Bladder Colloid Adenocarcinoma |
7 |
487 |
|
KDN011 |
Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma |
7 |
488 |
|
BLD014 |
Bladder Colonic Type Adenocarcinoma |
6 |
489 |
|
BLD012 |
Bladder Urothelial Papillary Carcinoma |
5 |
490 |
|
MCR008 |
Microcystic Variant Infiltrating Bladder Urothelial Carcinoma |
5 |
491 |
|
ALK013 |
Alkaptonuria |
58 |
492 |
|
AMN007 |
Aminoacylase 1 Deficiency |
36 |
493 |
c
|
TWN011 |
Townes-Brocks Syndrome 1 |
35 |
494 |
|
SQL002 |
Squalene Synthase Deficiency |
25 |
495 |
P
|
FML068 |
Familial Hypocalciuric Hypercalcemia |
54 |
496 |
|
SCL046 |
Scalp-Ear-Nipple Syndrome |
49 |
497 |
c
|
MLT128 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
47 |
498 |
|
HWK001 |
Hawkinsinuria |
42 |
499 |
|
CMB011 |
Combined Malonic and Methylmalonic Aciduria |
41 |
500 |
|
ADL060 |
Adult Polyglucosan Body Disease |
36 |
501 |
|
BRN134 |
Brain Malformations with or Without Urinary Tract Defects |
33 |
502 |
c
|
MYG004 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
28 |
503 |
|
KDN019 |
Kidney Sarcoma |
26 |
504 |
c
|
GLL045 |
Galloway-Mowat Syndrome 6 |
25 |
505 |
|
NRD046 |
Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities |
20 |
506 |
c
|
MYG006 |
Myoglobinuria, Autosomal Dominant |
15 |
507 |
|
ELL004 |
Ellis Yale Winter Syndrome |
7 |
508 |
|
FTZ004 |
Fitzsimmons Walson Mellor Syndrome |
7 |
509 |
|
INF035 |
Infiltrating Renal Pelvis Transitional Cell Carcinoma |
4 |
510 |
|
MLT157 |
Multiple System Atrophy 1 |
70 |
511 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
70 |
512 |
P
|
ALP004 |
Alport Syndrome |
68 |
513 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
63 |
514 |
c
|
GLY004 |
Glycogen Storage Disease V |
62 |
515 |
P
|
GLY013 |
Glycogen Storage Disease |
60 |
516 |
c
|
GLY003 |
Glycogen Storage Disease Iii |
59 |
517 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
58 |
518 |
|
LMY014 |
Leiomyoma, Uterine |
56 |
519 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
56 |
520 |
|
ALP077 |
Alpha-Methylacetoacetic Aciduria |
55 |
521 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
522 |
c
|
BLC008 |
Bile Acid Synthesis Defect, Congenital, 2 |
50 |
523 |
|
GLY014 |
Glycerol Kinase Deficiency |
49 |
524 |
c
|
GLY098 |
Glycogen Storage Disease, Type Ixd |
47 |
525 |
c
|
BLC007 |
Bile Acid Synthesis Defect, Congenital, 1 |
45 |
526 |
|
MLT073 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
44 |
527 |
c
|
GLY097 |
Glycogen Storage Disease Ixb |
44 |
528 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
43 |
529 |
P
|
MLG074 |
Malignant Mesenchymoma |
40 |
530 |
c
|
ATS018 |
Autosomal Recessive Alport Syndrome |
40 |
531 |
|
HYP139 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
40 |
532 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
40 |
533 |
|
FRC005 |
Fructosuria, Essential |
39 |
534 |
c
|
GLY009 |
Glycogen Storage Disease Xv |
39 |
535 |
|
KDN002 |
Kidney Rhabdoid Cancer |
38 |
536 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
37 |
537 |
c
|
CNG002 |
Congenital Bile Acid Synthesis Defect |
37 |
538 |
c
|
BLC011 |
Bile Acid Synthesis Defect, Congenital, 3 |
36 |
539 |
|
MCR257 |
Microcephaly, Amish Type |
34 |
540 |
c
|
GLY057 |
Glycogen Storage Disease X |
34 |
541 |
c
|
XLN231 |
X-Linked Alport Syndrome |
33 |
542 |
c
|
BLC009 |
Bile Acid Synthesis Defect, Congenital, 4 |
31 |
543 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
31 |
544 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
30 |
545 |
c
|
BLC016 |
Bile Acid Synthesis Defect, Congenital, 5 |
29 |
546 |
|
KDN016 |
Kidney Benign Neoplasm |
29 |
547 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
27 |
548 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
25 |
549 |
c
|
GLY059 |
Glycogen Storage Disease Xiii |
25 |
550 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
25 |
551 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
25 |
552 |
|
HYP683 |
Hypogonadism-Cataract Syndrome |
25 |
553 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
24 |
554 |
|
MLL022 |
Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly |
24 |
555 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
23 |
556 |
|
CMB084 |
Combined Oxidative Phosphorylation Deficiency 34 |
22 |
557 |
P
|
DSR081 |
Disorder of Bile Acid Synthesis |
21 |
558 |
|
MCR304 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs |
19 |
559 |
c
|
FML028 |
Familial Renal Oncocytoma |
19 |
560 |
|
FRS010 |
Forsythe-Wakeling Syndrome |
19 |
561 |
|
HRS039 |
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness |
17 |
562 |
|
HYP786 |
Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy |
16 |
563 |
|
CLP007 |
Clpb Deficiency |
15 |
564 |
|
TBL024 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
12 |
565 |
|
URT041 |
Urethral Obstruction Sequence |
12 |
566 |
|
NNP009 |
Non-Papillary Transitional Cell Carcinoma of the Bladder |
11 |
567 |
c
|
ADL020 |
Adult Malignant Mesenchymoma |
11 |
568 |
|
THR040 |
Thrombocytopenia with Elevated Serum Iga and Renal Disease |
10 |
569 |
c
|
HYP799 |
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion |
10 |
570 |
|
BLD050 |
Bladder Urachal Carcinoma |
9 |
571 |
|
NRP052 |
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine |
9 |
572 |
|
BLD021 |
Bladder Urachal Adenocarcinoma |
8 |
573 |
|
SNT001 |
Santos Mateus Leal Syndrome |
8 |
574 |
|
INF024 |
Infiltrating Bladder Lymphoepithelioma-Like Carcinoma |
6 |
575 |
|
BLD013 |
Bladder Urachal Squamous Cell Carcinoma |
6 |
576 |
|
BLD004 |
Bladder Urachal Urothelial Carcinoma |
5 |
577 |
|
BLD015 |
Bladder Tubulo-Cystic Clear Cell Adenocarcinoma |
5 |
578 |
|
BLD016 |
Bladder Papillary Clear Cell Adenocarcinoma |
5 |
579 |
|
URN002 |
Urinary Tract Non-Invasive Transitional Cell Neoplasm |
4 |
580 |
|
BLD020 |
Bladder Diffuse Clear Cell Adenocarcinoma |
4 |
581 |
|
BLD017 |
Bladder Mixed Adenocarcinoma |
4 |
582 |
|
OCL029 |
Oculo Skeletal Renal Syndrome |
2 |
583 |
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
584 |
c
|
TBR025 |
Tuberous Sclerosis 1 |
77 |
585 |
c
|
TBR026 |
Tuberous Sclerosis 2 |
72 |
586 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
587 |
P
|
KDN018 |
Kidney Disease |
72 |
588 |
|
FBR012 |
Fabry Disease |
72 |
589 |
c
|
EPL184 |
Epileptic Encephalopathy, Early Infantile, 6 |
70 |
590 |
P
|
TBR001 |
Tuberous Sclerosis |
70 |
591 |
P
|
LVR013 |
Liver Disease |
68 |
592 |
P
|
HML033 |
Hemolytic Uremic Syndrome, Atypical 1 |
68 |
593 |
|
MLT092 |
Multicentric Carpotarsal Osteolysis Syndrome |
65 |
594 |
P
|
ERL057 |
Early Infantile Epileptic Encephalopathy |
63 |
595 |
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
596 |
c
|
HYP794 |
Hyperoxaluria, Primary, Type I |
63 |
597 |
c
|
ACT068 |
Acute Cystitis |
63 |
598 |
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
599 |
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
600 |
|
LSC001 |
Lesch-Nyhan Syndrome |
62 |
601 |
P
|
CRN108 |
Cranioectodermal Dysplasia 1 |
62 |
602 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
61 |
603 |
|
NPH091 |
Nephrolithiasis, Calcium Oxalate |
60 |
604 |
P
|
NPH012 |
Nephrotic Syndrome |
60 |
605 |
P
|
PLY169 |
Polycystic Liver Disease 1 with or Without Kidney Cysts |
60 |
606 |
c
|
ACT071 |
Acute Kidney Failure |
60 |
607 |
P
|
CYS018 |
Cystitis |
59 |
608 |
|
APP015 |
Apparent Mineralocorticoid Excess |
58 |
609 |
P
|
FNC044 |
Fanconi Anemia, Complementation Group C |
57 |
610 |
P
|
GLM007 |
Glomerulonephritis |
57 |
611 |
P
|
ZLL001 |
Zellweger Syndrome |
57 |
612 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
56 |
613 |
c
|
ACT134 |
Acute Liver Failure |
56 |
614 |
|
VRG001 |
Variegate Porphyria |
56 |
615 |
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
56 |
616 |
c
|
NPH055 |
Nephrotic Syndrome, Type 1 |
56 |
617 |
|
PLV003 |
Pelvic Inflammatory Disease |
55 |
618 |
|
MMB001 |
Membranoproliferative Glomerulonephritis |
55 |
619 |
|
NPH009 |
Nephrolithiasis |
55 |
620 |
c
|
FNC029 |
Fanconi Anemia, Complementation Group I |
54 |
621 |
P
|
CYS039 |
Cystic Kidney Disease |
54 |
622 |
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
623 |
c
|
EPL097 |
Epileptic Encephalopathy, Early Infantile, 14 |
52 |
624 |
c
|
EPL037 |
Epileptic Encephalopathy, Early Infantile, 1 |
52 |
625 |
P
|
D2H002 |
D-2-Hydroxyglutaric Aciduria 1 |
52 |
626 |
c
|
FNC025 |
Fanconi Anemia, Complementation Group J |
52 |
627 |
c
|
JBR018 |
Joubert Syndrome 4 |
51 |
628 |
P
|
RNL007 |
Renal Tubular Acidosis |
51 |
629 |
|
END086 |
End Stage Renal Disease |
51 |
630 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
50 |
631 |
c
|
NPH030 |
Nephronophthisis 2 |
50 |
632 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
50 |
633 |
c
|
FNC046 |
Fanconi Anemia, Complementation Group P |
50 |
634 |
c
|
FNC048 |
Fanconi Anemia, Complementation Group O |
49 |
635 |
c
|
L2H001 |
L-2-Hydroxyglutaric Aciduria |
49 |
636 |
|
URM002 |
Uremia |
49 |
637 |
c
|
FNC028 |
Fanconi Anemia, Complementation Group L |
49 |
638 |
|
CKT002 |
Cakut |
48 |
639 |
c
|
NPH049 |
Nephrotic Syndrome, Type 2 |
48 |
640 |
|
INT067 |
Interstitial Nephritis |
48 |
641 |
|
BLD044 |
Bladder Disease |
48 |
642 |
c
|
FNC032 |
Fanconi Anemia, Complementation Group B |
48 |
643 |
c
|
FNC023 |
Fanconi Anemia, Complementation Group N |
48 |
644 |
P
|
PRP056 |
Porphyria, Acute Hepatic |
48 |
645 |
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
646 |
c
|
NPH032 |
Nephronophthisis 4 |
47 |
647 |
|
RNL077 |
Renal Fibrosis |
47 |
648 |
c
|
EPL068 |
Epileptic Encephalopathy, Early Infantile, 7 |
47 |
649 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
46 |
650 |
c
|
JBR025 |
Joubert Syndrome 17 |
46 |
651 |
c
|
FNC047 |
Fanconi Anemia, Complementation Group Q |
46 |
652 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
653 |
c
|
FCL025 |
Focal Segmental Glomerulosclerosis 1 |
46 |
654 |
|
ANR004 |
Anuria |
46 |
655 |
c
|
FNC045 |
Fanconi Anemia, Complementation Group F |
46 |
656 |
c
|
JBR015 |
Joubert Syndrome 6 |
45 |
657 |
c
|
EPL029 |
Epileptic Encephalopathy, Early Infantile, 9 |
45 |
658 |
c
|
NPH054 |
Nephrotic Syndrome, Type 3 |
45 |
659 |
|
URL001 |
Urolithiasis |
45 |
660 |
|
ACT003 |
Acute Kidney Tubular Necrosis |
45 |
661 |
|
HYP550 |
Hypomagnesemia 1, Intestinal |
45 |
662 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
45 |
663 |
|
FSH001 |
Fish-Eye Disease |
45 |
664 |
c
|
NPH071 |
Nephronophthisis 14 |
45 |
665 |
c
|
RNL122 |
Renal Hypodysplasia/aplasia 3 |
44 |
666 |
P
|
PSD003 |
Pseudohypoaldosteronism |
44 |
667 |
c
|
EPL082 |
Epileptic Encephalopathy, Early Infantile, 13 |
44 |
668 |
c
|
NPH068 |
Nephronophthisis 16 |
44 |
669 |
c
|
JBR024 |
Joubert Syndrome 14 |
44 |
670 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
44 |
671 |
P
|
MYG005 |
Myoglobinuria |
44 |
672 |
P
|
RPD001 |
Rapidly Progressive Glomerulonephritis |
44 |
673 |
c
|
FNC058 |
Fanconi Anemia, Complementation Group R |
43 |
674 |
c
|
EPL026 |
Epileptic Encephalopathy, Early Infantile, 3 |
43 |
675 |
c
|
FNC057 |
Fanconi Anemia, Complementation Group U |
43 |
676 |
c
|
JBR014 |
Joubert Syndrome 9 |
43 |
677 |
|
PRS042 |
Prostate Disease |
43 |
678 |
|
IDP073 |
Idiopathic Hypercalciuria |
43 |
679 |
c
|
JBR013 |
Joubert Syndrome 8 |
42 |
680 |
|
RNL025 |
Renal Hypoplasia |
42 |
681 |
c
|
JBR028 |
Joubert Syndrome 13 |
42 |
682 |
|
OBS082 |
Obstructive Nephropathy |
42 |
683 |
|
IDP091 |
Idiopathic Nephrotic Syndrome |
42 |
684 |
c
|
JBR016 |
Joubert Syndrome 10 |
41 |
685 |
c
|
NPH067 |
Nephronophthisis 12 |
41 |
686 |
c
|
PST041 |
Posterior Urethral Valves |
41 |
687 |
|
NPH078 |
Nephrolithiasis, Uric Acid |
41 |
688 |
c
|
FML015 |
Familial Nephrotic Syndrome |
41 |
689 |
c
|
NPH033 |
Nephronophthisis 7 |
41 |
690 |
c
|
EPL119 |
Epileptic Encephalopathy, Early Infantile, 17 |
41 |
691 |
c
|
EPL024 |
Epileptic Encephalopathy, Early Infantile, 12 |
41 |
692 |
c
|
FNC030 |
Fanconi Anemia, Complementation Group G |
41 |
693 |
c
|
JBR026 |
Joubert Syndrome 15 |
40 |
694 |
c
|
EPL027 |
Epileptic Encephalopathy, Early Infantile, 4 |
40 |
695 |
c
|
FNC052 |
Fanconi Anemia, Complementation Group T |
40 |
696 |
c
|
NPH072 |
Nephrotic Syndrome, Type 7 |
40 |
697 |
c
|
JBR031 |
Joubert Syndrome 21 |
40 |
698 |
|
LWR018 |
Lower Urinary Tract Obstruction, Congenital |
40 |
699 |
|
BLD045 |
Bladder Diverticulum |
40 |
700 |
|
IMM001 |
Immune-Complex Glomerulonephritis |
40 |
701 |
c
|
EPL185 |
Epileptic Encephalopathy, Early Infantile, 39 |
39 |
702 |
c
|
FNC056 |
Fanconi Anemia, Complementation Group V |
39 |
703 |
c
|
EPL195 |
Epileptic Encephalopathy, Early Infantile, 53 |
39 |
704 |
c
|
NPH065 |
Nephronophthisis 13 |
39 |
705 |
c
|
EPL123 |
Epileptic Encephalopathy, Early Infantile, 23 |
39 |
706 |
c
|
NPH076 |
Nephrotic Syndrome, Type 10 |
39 |
707 |
|
AMN006 |
Aminoaciduria |
38 |
708 |
c
|
NPH077 |
Nephronophthisis 19 |
38 |
709 |
|
MTH055 |
Methylmalonic Aciduria and Homocystinuria, Cbld Type |
38 |
710 |
c
|
EPL023 |
Epileptic Encephalopathy, Early Infantile, 11 |
38 |
711 |
|
PTT002 |
Potter's Syndrome |
38 |
712 |
|
URT004 |
Urethral Syndrome |
38 |
713 |
|
VCT005 |
Vacterl Association, X-Linked, with or Without Hydrocephalus |
38 |
714 |
c
|
EPL153 |
Epileptic Encephalopathy, Early Infantile, 29 |
38 |
715 |
c
|
EPL117 |
Epileptic Encephalopathy, Early Infantile, 16 |
38 |
716 |
c
|
EPL028 |
Epileptic Encephalopathy, Early Infantile, 5 |
38 |
717 |
c
|
EPL038 |
Epileptic Encephalopathy, Early Infantile, 8 |
38 |
718 |
|
GLY081 |
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency |
38 |
719 |
c
|
2HY001 |
2-Hydroxyglutaric Aciduria |
38 |
720 |
|
NPH113 |
Nephroma |
37 |
721 |
c
|
EPL169 |
Epileptic Encephalopathy, Early Infantile, 36 |
37 |
722 |
|
NPH037 |
Nephronophthisis-Like Nephropathy 1 |
37 |
723 |
c
|
CRN109 |
Cranioectodermal Dysplasia 2 |
36 |
724 |
c
|
JBR042 |
Joubert Syndrome 23 |
36 |
725 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
36 |
726 |
c
|
EPL130 |
Epileptic Encephalopathy, Early Infantile, 26 |
36 |
727 |
|
THR123 |
Thrombotic Microangiopathy |
36 |
728 |
c
|
BRT056 |
Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness |
36 |
729 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
36 |
730 |
c
|
ATM045 |
Autoimmune Glomerulonephritis |
36 |
731 |
c
|
EPL159 |
Epileptic Encephalopathy, Early Infantile, 34 |
35 |
732 |
|
NPH039 |
Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities |
35 |
733 |
c
|
EPL183 |
Epileptic Encephalopathy, Early Infantile, 50 |
35 |
734 |
|
BLD009 |
Bladder Neck Obstruction |
35 |
735 |
c
|
NPH047 |
Nephrotic Syndrome, Type 4 |
34 |
736 |
c
|
JBR037 |
Joubert Syndrome 26 |
34 |
737 |
c
|
CHR087 |
Chronic Cystitis |
34 |
738 |
c
|
JBR030 |
Joubert Syndrome 22 |
34 |
739 |
c
|
D2H003 |
D-2-Hydroxyglutaric Aciduria 2 |
34 |
740 |
c
|
EPL099 |
Epileptic Encephalopathy, Early Infantile, 15 |
34 |
741 |
c
|
JBR022 |
Joubert Syndrome 20 |
34 |
742 |
c
|
FNC062 |
Fanconi Anemia, Complementation Group S |
34 |
743 |
c
|
EPL125 |
Epileptic Encephalopathy, Early Infantile, 24 |
34 |
744 |
|
KDN001 |
Kidney Cortex Necrosis |
34 |
745 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
34 |
746 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
34 |
747 |
P
|
ACR072 |
Acrorenal Syndrome |
33 |
748 |
c
|
JBR036 |
Joubert Syndrome 25 |
33 |
749 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
750 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
32 |
751 |
|
HYP193 |
Hypocomplementemic Urticarial Vasculitis |
32 |
752 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
31 |
753 |
c
|
INF147 |
Infantile Nephronophthisis |
31 |
754 |
c
|
PSD093 |
Pseudohypoaldosteronism, Type Iid |
31 |
755 |
c
|
EPL156 |
Epileptic Encephalopathy, Early Infantile, 33 |
31 |
756 |
P
|
RNL115 |
Renal Tubular Acidosis, Proximal |
31 |
757 |
|
RNL054 |
Renal Tubular Acidosis, Distal, with Hemolytic Anemia |
31 |
758 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
759 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
30 |
760 |
c
|
FCL053 |
Focal Segmental Glomerulosclerosis 8 |
30 |
761 |
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
30 |
762 |
c
|
JBR045 |
Joubert Syndrome 33 |
30 |
763 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
30 |
764 |
c
|
EPL241 |
Epileptic Encephalopathy, Early Infantile, 76 |
30 |
765 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
29 |
766 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
29 |
767 |
c
|
EPL139 |
Epileptic Encephalopathy, Early Infantile, 28 |
29 |
768 |
|
BLD041 |
Bladder Calculus |
29 |
769 |
c
|
EPL135 |
Epileptic Encephalopathy, Early Infantile, 27 |
29 |
770 |
c
|
NPH096 |
Nephrotic Syndrome, Type 12 |
29 |
771 |
c
|
EPL193 |
Epileptic Encephalopathy, Early Infantile, 35 |
28 |
772 |
c
|
EPL172 |
Epileptic Encephalopathy, Early Infantile, 42 |
28 |
773 |
|
KDN006 |
Kidney Papillary Necrosis |
28 |
774 |
|
RNL021 |
Renal Tubular Transport Disease |
28 |
775 |
c
|
JBR044 |
Joubert Syndrome 31 |
28 |
776 |
c
|
EPL181 |
Epileptic Encephalopathy, Early Infantile, 44 |
28 |
777 |
c
|
HML035 |
Hemolytic Uremic Syndrome, Atypical 2 |
28 |
778 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
27 |
779 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
27 |
780 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
27 |
781 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
27 |
782 |
c
|
EPL151 |
Epileptic Encephalopathy, Early Infantile, 31 |
27 |
783 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
27 |
784 |
|
DVL024 |
Developmental Delay with or Without Dysmorphic Facies and Autism |
27 |
785 |
c
|
SNR006 |
Senior-Loken Syndrome 6 |
27 |
786 |
c
|
RNL016 |
Renal Infectious Disease |
27 |
787 |
c
|
EPL194 |
Epileptic Encephalopathy, Early Infantile, 55 |
27 |
788 |
c
|
EPL173 |
Epileptic Encephalopathy, Early Infantile, 47 |
27 |
789 |
c
|
EPL189 |
Epileptic Encephalopathy, Early Infantile, 37 |
27 |
790 |
c
|
EPL240 |
Epileptic Encephalopathy, Early Infantile, 75 |
26 |
791 |
c
|
EPL127 |
Epileptic Encephalopathy, Early Infantile, 21 |
26 |
792 |
c
|
SNR004 |
Senior-Loken Syndrome 4 |
26 |
793 |
c
|
JBR027 |
Joubert Syndrome 16 |
26 |
794 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
26 |
795 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
26 |
796 |
c
|
EPL157 |
Epileptic Encephalopathy, Early Infantile, 30 |
26 |
797 |
c
|
JBR021 |
Joubert Syndrome 18 |
26 |
798 |
|
SDH011 |
Sedoheptulokinase Deficiency |
26 |
799 |
c
|
HML034 |
Hemolytic Uremic Syndrome, Atypical 3 |
26 |
800 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
26 |
801 |
c
|
EPL178 |
Epileptic Encephalopathy, Early Infantile, 51 |
25 |
802 |
c
|
HML037 |
Hemolytic Uremic Syndrome, Atypical 5 |
25 |
803 |
c
|
JBR043 |
Joubert Syndrome 32 |
25 |
804 |
c
|
JBR040 |
Joubert Syndrome 30 |
25 |
805 |
c
|
HML032 |
Hemolytic Uremic Syndrome, Atypical 4 |
25 |
806 |
c
|
EPL102 |
Epileptic Encephalopathy, Early Infantile, 18 |
25 |
807 |
c
|
NPH073 |
Nephrotic Syndrome, Type 8 |
25 |
808 |
c
|
EPL223 |
Epileptic Encephalopathy, Early Infantile, 64 |
25 |
809 |
c
|
EPL182 |
Epileptic Encephalopathy, Early Infantile, 54 |
25 |
810 |
c
|
HML036 |
Hemolytic Uremic Syndrome, Atypical 6 |
25 |
811 |
c
|
EPL146 |
Epileptic Encephalopathy, Early Infantile, 32 |
25 |
812 |
c
|
JBR039 |
Joubert Syndrome 28 |
25 |
813 |
c
|
SNR007 |
Senior-Loken Syndrome 7 |
25 |
814 |
|
THV001 |
Thauvin-Robinet-Faivre Syndrome |
25 |
815 |
c
|
NPH095 |
Nephrotic Syndrome, Type 11 |
25 |
816 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
25 |
817 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
25 |
818 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
25 |
819 |
|
PRT121 |
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis |
25 |
820 |
c
|
EPL233 |
Epileptic Encephalopathy, Early Infantile, 69 |
25 |
821 |
c
|
EPL191 |
Epileptic Encephalopathy, Early Infantile, 48 |
25 |
822 |
c
|
EPL179 |
Epileptic Encephalopathy, Early Infantile, 52 |
25 |
823 |
|
FBR085 |
Fibrillary Glomerulonephritis |
24 |
824 |
c
|
EPL190 |
Epileptic Encephalopathy, Early Infantile, 49 |
24 |
825 |
c
|
EPL211 |
Epileptic Encephalopathy, Early Infantile, 56 |
24 |
826 |
c
|
PLY141 |
Polycystic Kidney Disease 5 |
24 |
827 |
c
|
FNC061 |
Fanconi Anemia, Complementation Group W |
24 |
828 |
c
|
NPH074 |
Nephrotic Syndrome, Type 9 |
24 |
829 |
|
MXD010 |
Mixed Epithelial Stromal Tumour |
24 |
830 |
c
|
NPH105 |
Nephrotic Syndrome, Type 17 |
24 |
831 |
c
|
EPL224 |
Epileptic Encephalopathy, Early Infantile, 65 |
24 |
832 |
c
|
NPH070 |
Nephrotic Syndrome, Type 6 |
24 |
833 |
c
|
EPL238 |
Epileptic Encephalopathy, Early Infantile, 73 |
24 |
834 |
|
BLD030 |
Bladder Tuberculosis |
24 |
835 |
c
|
EPL234 |
Epileptic Encephalopathy, Early Infantile, 70 |
24 |
836 |
c
|
EPL252 |
Epileptic Encephalopathy, Early Infantile, 84 |
24 |
837 |
c
|
EPL229 |
Epileptic Encephalopathy, Early Infantile, 67 |
24 |
838 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
24 |
839 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
840 |
c
|
EPL175 |
Epileptic Encephalopathy, Early Infantile, 43 |
24 |
841 |
c
|
EPL246 |
Epileptic Encephalopathy, Early Infantile, 80 |
24 |
842 |
|
ARD001 |
Aredyld |
24 |
843 |
|
AXL004 |
Axial Mesodermal Dysplasia Spectrum |
24 |
844 |
c
|
EPL126 |
Epileptic Encephalopathy, Early Infantile, 19 |
24 |
845 |
c
|
EPL180 |
Epileptic Encephalopathy, Early Infantile, 41 |
24 |
846 |
c
|
NPH103 |
Nephrotic Syndrome, Type 15 |
24 |
847 |
c
|
EPL232 |
Epileptic Encephalopathy, Early Infantile, 68 |
24 |
848 |
c
|
EPL176 |
Epileptic Encephalopathy, Early Infantile, 46 |
23 |
849 |
c
|
SPS039 |
Spastic Paraplegia 5a |
23 |
850 |
c
|
EPL221 |
Epileptic Encephalopathy, Early Infantile, 62 |
23 |
851 |
P
|
ADL099 |
Adult Cystic Nephroma |
23 |
852 |
c
|
EPL249 |
Epileptic Encephalopathy, Early Infantile, 82 |
23 |
853 |
c
|
EPL222 |
Epileptic Encephalopathy, Early Infantile, 63 |
23 |
854 |
c
|
NPH108 |
Nephrotic Syndrome, Type 20 |
23 |
855 |
c
|
EPL243 |
Epileptic Encephalopathy, Early Infantile, 77 |
23 |
856 |
|
FCC002 |
Faciocardiorenal Syndrome |
23 |
857 |
c
|
EPL216 |
Epileptic Encephalopathy, Early Infantile, 59 |
23 |
858 |
c
|
EPL250 |
Epileptic Encephalopathy, Early Infantile, 83 |
23 |
859 |
c
|
SPS036 |
Spastic Paraplegia 3 |
23 |
860 |
|
IDP095 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
23 |
861 |
c
|
BRT049 |
Bartter Syndrome, Type 5, Antenatal, Transient |
23 |
862 |
c
|
EPL171 |
Epileptic Encephalopathy, Early Infantile, 38 |
23 |
863 |
|
ATS309 |
Autosomal Dominant Leukodystrophy with Autonomic Disease |
22 |
864 |
c
|
EPL235 |
Epileptic Encephalopathy, Early Infantile, 71 |
22 |
865 |
c
|
JBR038 |
Joubert Syndrome 27 |
22 |
866 |
c
|
EPL239 |
Epileptic Encephalopathy, Early Infantile, 74 |
22 |
867 |
c
|
EPL174 |
Epileptic Encephalopathy, Early Infantile, 45 |
22 |
868 |
c
|
EPL248 |
Epileptic Encephalopathy, Early Infantile, 81 |
22 |
869 |
c
|
EPL218 |
Epileptic Encephalopathy, Early Infantile, 60 |
22 |
870 |
c
|
JBR048 |
Joubert Syndrome 36 |
22 |
871 |
|
URM001 |
Uremic Neuropathy |
22 |
872 |
c
|
NPH106 |
Nephrotic Syndrome, Type 18 |
22 |
873 |
c
|
EPL226 |
Epileptic Encephalopathy, Early Infantile, 66 |
22 |
874 |
c
|
PLY177 |
Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease |
22 |
875 |
c
|
NPH086 |
Nephronophthisis 20 |
22 |
876 |
c
|
EPL237 |
Epileptic Encephalopathy, Early Infantile, 72 |
22 |
877 |
c
|
EPL219 |
Epileptic Encephalopathy, Early Infantile, 61 |
22 |
878 |
c
|
EPL215 |
Epileptic Encephalopathy, Early Infantile, 58 |
21 |
879 |
c
|
EPL244 |
Epileptic Encephalopathy, Early Infantile, 78 |
21 |
880 |
c
|
EPL213 |
Epileptic Encephalopathy, Early Infantile, 57 |
21 |
881 |
c
|
EPL177 |
Epileptic Encephalopathy, Early Infantile, 40 |
21 |
882 |
c
|
NPH107 |
Nephrotic Syndrome, Type 19 |
21 |
883 |
c
|
ATS310 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related |
21 |
884 |
c
|
NPH093 |
Nephrotic Syndrome, Type 13 |
20 |
885 |
c
|
HYD071 |
Hydrocephalus, Normal-Pressure, 1 |
20 |
886 |
c
|
NPH104 |
Nephrotic Syndrome, Type 16 |
20 |
887 |
c
|
EPL245 |
Epileptic Encephalopathy, Early Infantile, 79 |
20 |
888 |
|
NLP003 |
Nail-Patella-Like Renal Disease |
20 |
889 |
|
FNC060 |
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young |
20 |
890 |
|
GNT182 |
Genetic Nephrotic Syndrome |
20 |
891 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
20 |
892 |
|
DLC002 |
D-Lactic Aciduria with Gout |
19 |
893 |
|
ESN013 |
Eosinophilic Cystitis |
19 |
894 |
c
|
PRM150 |
Primary Localized Amyloidosis |
19 |
895 |
|
XLN232 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
19 |
896 |
|
BLT024 |
Bilateral Renal Aplasia |
18 |
897 |
c
|
INF190 |
Infantile Liver Failure Syndrome 3 |
18 |
898 |
|
LWR004 |
Lower Urinary Tract Calculus |
18 |
899 |
c
|
AHM002 |
Ah Amyloidosis |
18 |
900 |
c
|
PLY174 |
Polycystic Liver Disease 3 with or Without Kidney Cysts |
17 |
901 |
|
IGG011 |
Igg4-Related Kidney Disease |
16 |
902 |
|
CNG330 |
Congenital Megacalycosis |
16 |
903 |
c
|
PLY176 |
Polycystic Kidney Disease 4 |
16 |
904 |
|
IMM051 |
Immunotactoid or Fibrillary Glomerulopathy |
15 |
905 |
c
|
CNG542 |
Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
15 |
906 |
|
CLL035 |
Collagen Type Iii Glomerulopathy |
15 |
907 |
|
SNR014 |
Senior-Boichis Syndrome |
14 |
908 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
13 |
909 |
|
MGL007 |
Megalocytic Interstitial Nephritis |
13 |
910 |
P
|
ANT062 |
Anterior Urethral Valve |
13 |
911 |
|
STR108 |
Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome |
13 |
912 |
|
XLN243 |
X-Linked Nephrolithiasis Type I |
12 |
913 |
P
|
CNG326 |
Congenital Primary Megaureter |
12 |
914 |
|
URT019 |
Urethral Gland Abscess |
12 |
915 |
|
GNR029 |
Generalized Galactose Epimerase Deficiency |
12 |
916 |
|
MGC005 |
Megacystis-Megaureter Syndrome |
11 |
917 |
c
|
LTN020 |
Late-Onset Nephronophthisis |
11 |
918 |
c
|
PRM152 |
Primary Renal Tubular Acidosis |
11 |
919 |
c
|
EPL255 |
Epileptic Encephalopathy, Early Infantile, 86 |
11 |
920 |
|
ERY024 |
Erythropoietic Uroporphyria Associated with Myeloid Malignancy |
10 |
921 |
|
PCM003 |
Pauci-Immune Glomerulonephritis Without Anca |
9 |
922 |
|
ACQ046 |
Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome |
9 |
923 |
c
|
MLG055 |
Malignant Cystic Nephroma |
8 |
924 |
|
CNG106 |
Congenital Megalo-Ureter |
6 |
925 |
|
IDP096 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance |
6 |
926 |
|
ISL027 |
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type |
5 |
927 |
c
|
BCK011 |
Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion |
5 |
928 |
|
INF182 |
Infection-Related Hemolytic Uremic Syndrome |
5 |
929 |
c
|
ARX003 |
Arx-Related Epileptic Encephalopathy |
5 |
930 |
|
BCK010 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion |
4 |
931 |
|
CNG270 |
Congenital Primary Megaureter, Obstructed Form |
4 |
932 |
|
CNG580 |
Congenital Disorder of Glycosylation with Nephropathy As a Major Feature |
4 |
933 |
|
CNG331 |
Congenital Bilateral Megacalycosis |
4 |
934 |
|
UNL009 |
Unilateral Congenital Megacalycosis |
4 |
935 |
|
GNT180 |
Genetic Primary Hypomagnesemia with Normocalciuria |
3 |
936 |
|
BCK016 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication |
3 |
937 |
c
|
FML358 |
Familial Cystic Renal Disease |
3 |
938 |
|
RRG077 |
Rare Genetic Cause of Hypertension |
3 |
939 |
|
IDP094 |
Idiopathic Multidrug-Resistant Nephrotic Syndrome |
3 |
940 |
|
ATY046 |
Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome |
3 |
941 |
|
CNG585 |
Congenital Primary Megaureter, Refluxing and Obstructed Form |
3 |
942 |
|
NNG004 |
Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature |
2 |
943 |
|
DSR087 |
Disorder with Multisystemic Involvement and Glomerulopathy |
2 |
944 |
|
CLL042 |
Collagen-Related Glomerular Basement Membrane Disease |
2 |
945 |
|
KDN014 |
Kidney Leiomyosarcoma |
18 |
946 |
|
KDN005 |
Kidney Liposarcoma |
9 |
947 |
P
|
MLN066 |
Melanoma, Cutaneous Malignant 1 |
70 |
948 |
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
949 |
c
|
MLN043 |
Melanoma, Cutaneous Malignant 8 |
34 |
950 |
c
|
MLN067 |
Melanoma, Cutaneous Malignant 2 |
29 |
951 |
c
|
MLN075 |
Melanoma, Cutaneous Malignant 3 |
27 |
952 |
c
|
MLN076 |
Melanoma, Cutaneous Malignant 5 |
24 |
953 |
c
|
MLN077 |
Melanoma, Cutaneous Malignant 9 |
23 |
954 |
c
|
MLN042 |
Melanoma, Cutaneous Malignant 6 |
22 |
955 |
c
|
MLN074 |
Melanoma, Cutaneous Malignant 4 |
20 |
956 |
c
|
MLN040 |
Melanoma, Cutaneous Malignant 7 |
20 |
957 |
|
VSC044 |
Visceral Myopathy |
51 |
958 |
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
67 |
959 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
59 |
960 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
51 |
961 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
51 |
962 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
51 |
963 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
50 |
964 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
48 |
965 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
48 |
966 |
|
GLT007 |
Glutathione Synthetase Deficiency |
47 |
967 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
968 |
|
3MC003 |
3mc Syndrome |
46 |
969 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
45 |
970 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
44 |
971 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
42 |
972 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
37 |
973 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
31 |
974 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
26 |
975 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
976 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
22 |
977 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
978 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
21 |
979 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
19 |
980 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
17 |
981 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
16 |
982 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
16 |
983 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
7 |
984 |
P
|
SHR029 |
Short Syndrome |
63 |
985 |
P
|
NRM002 |
Normal Pressure Hydrocephalus |
54 |
986 |
P
|
AMY084 |
Amyloidosis, Finnish Type |
53 |
987 |
|
SLR001 |
Sialuria |
50 |
988 |
P
|
SPS133 |
Spastic Paraplegia 2, X-Linked |
49 |
989 |
c
|
SHR030 |
Short Qt Syndrome |
46 |
990 |
c
|
HYP752 |
Hypocalciuric Hypercalcemia, Familial, Type I |
45 |
991 |
c
|
FML294 |
Familial Short Qt Syndrome |
41 |
992 |
|
BLB005 |
Beaulieu-Boycott-Innes Syndrome |
37 |
993 |
c
|
SHR032 |
Short Qt Syndrome 2 |
32 |
994 |
c
|
SPS198 |
Spastic Paraplegia 16, X-Linked |
30 |
995 |
c
|
SHR033 |
Short Qt Syndrome 3 |
29 |
996 |
c
|
SHR031 |
Short Qt Syndrome 1 |
28 |
997 |
c
|
SPS062 |
Spastic Paraplegia 34, X-Linked |
28 |
998 |
|
LMB076 |
Lumbar Syndrome |
26 |
999 |
c
|
FML249 |
Familial Amyloidosis, Finnish Type |
22 |
1000 |
|
KDN010 |
Kidney Osteogenic Sarcoma |
13 |
1001 |
|
KRN006 |
Karandikar Maria Kamble Syndrome |
7 |
1002 |
|
BLD018 |
Bladder Hepatoid Adenocarcinoma |
5 |
1003 |
|
ALS004 |
Alsing Syndrome |
4 |
1004 |
|
LYM013 |
Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma |
4 |
1005 |
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
1006 |
|
MYL069 |
Myeloma, Multiple |
85 |
1007 |
c
|
HYP595 |
Hypertension, Essential |
84 |
1008 |
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
1009 |
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
1010 |
c
|
BTT014 |
Beta-Thalassemia |
74 |
1011 |
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
1012 |
P
|
SRC025 |
Sarcoidosis 1 |
70 |
1013 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
70 |
1014 |
P
|
TMP003 |
Temporal Arteritis |
68 |
1015 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
1016 |
c
|
PLY168 |
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease |
66 |
1017 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
65 |
1018 |
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
1019 |
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
1020 |
c
|
ALP101 |
Alpha-Thalassemia |
62 |
1021 |
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
1022 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
1023 |
P
|
PRM002 |
Primary Hyperoxaluria |
62 |
1024 |
|
CHR001 |
Churg-Strauss Syndrome |
61 |
1025 |
P
|
LPS004 |
Lupus Erythematosus |
61 |
1026 |
|
WLL001 |
Williams-Beuren Syndrome |
60 |
1027 |
P
|
THL005 |
Thalassemia |
60 |
1028 |
P
|
NPH005 |
Nephronophthisis |
59 |
1029 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
58 |
1030 |
c
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
58 |
1031 |
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
58 |
1032 |
|
ADL030 |
Adult-Onset Still's Disease |
58 |
1033 |
P
|
PLV020 |
Pelvic Organ Prolapse |
57 |
1034 |
c
|
PLY172 |
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease |
57 |
1035 |
|
BLR008 |
Bilirubin Metabolic Disorder |
57 |
1036 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
56 |
1037 |
|
GDP001 |
Goodpasture Syndrome |
55 |
1038 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
55 |
1039 |
P
|
ALP106 |
Alport Syndrome 1, X-Linked |
55 |
1040 |
P
|
AML002 |
Amelogenesis Imperfecta |
55 |
1041 |
c
|
GLY011 |
Glycogen Storage Disease Vii |
55 |
1042 |
|
RLP001 |
Relapsing Polychondritis |
54 |
1043 |
c
|
AML044 |
Amelogenesis Imperfecta, Type Ig |
54 |
1044 |
c
|
RBN022 |
Robinow Syndrome, Autosomal Recessive 1 |
54 |
1045 |
c
|
FML116 |
Familial Cold Autoinflammatory Syndrome 1 |
54 |
1046 |
|
HYP741 |
Hyperparathyroidism 2 with Jaw Tumors |
53 |
1047 |
|
HYP815 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome |
53 |
1048 |
c
|
XNT010 |
Xanthinuria, Type I |
53 |
1049 |
|
TRC003 |
Trichomoniasis |
53 |
1050 |
c
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
53 |
1051 |
P
|
BRT004 |
Bartter Disease |
52 |
1052 |
|
NPH003 |
Nephrocalcinosis |
51 |
1053 |
c
|
HYP602 |
Hyperoxaluria, Primary, Type Ii |
51 |
1054 |
|
CYS036 |
Cystinosis, Nephropathic |
51 |
1055 |
c
|
RBN018 |
Robinow Syndrome, Autosomal Dominant 1 |
51 |
1056 |
|
ADR042 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
50 |
1057 |
c
|
NPH019 |
Nephronophthisis 1 |
50 |
1058 |
P
|
MMB011 |
Membranous Nephropathy |
50 |
1059 |
P
|
FNC004 |
Fanconi Syndrome |
50 |
1060 |
|
HPT014 |
Hepatorenal Syndrome |
50 |
1061 |
|
VTR016 |
Vater/vacterl Association |
50 |
1062 |
|
HMG002 |
Hemoglobinuria |
50 |
1063 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
1064 |
c
|
NNN010 |
Noonan Syndrome 3 |
49 |
1065 |
P
|
RBN002 |
Robinow Syndrome |
49 |
1066 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
1067 |
P
|
HYP534 |
Hypomagnesemia 3, Renal |
48 |
1068 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
48 |
1069 |
c
|
MLG069 |
Malignant Hypertension |
47 |
1070 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
1071 |
c
|
FML253 |
Familial Cold Autoinflammatory Syndrome 3 |
47 |
1072 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
47 |
1073 |
|
LPD004 |
Lipoid Nephrosis |
46 |
1074 |
c
|
ALP104 |
Alport Syndrome 3, Autosomal Dominant |
46 |
1075 |
|
PDT035 |
Pediatric Systemic Lupus Erythematosus |
46 |
1076 |
c
|
RBN017 |
Robinow Syndrome, Autosomal Dominant 2 |
46 |
1077 |
P
|
HYP733 |
Hypercalciuria, Absorptive, 2 |
45 |
1078 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
45 |
1079 |
c
|
NNN013 |
Noonan Syndrome 6 |
45 |
1080 |
|
MSN001 |
Mesangial Proliferative Glomerulonephritis |
45 |
1081 |
|
C3G002 |
C3 Glomerulopathy |
45 |
1082 |
|
EXS017 |
Exstrophy of Bladder |
45 |
1083 |
c
|
NPH031 |
Nephronophthisis 3 |
45 |
1084 |
c
|
NPH053 |
Nephronophthisis 11 |
44 |
1085 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
44 |
1086 |
|
INT258 |
Interstitial Nephritis, Karyomegalic |
44 |
1087 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
44 |
1088 |
c
|
NPH035 |
Nephronophthisis 9 |
44 |
1089 |
c
|
NNN011 |
Noonan Syndrome 4 |
44 |
1090 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
43 |
1091 |
P
|
HYP758 |
Hyperuricemic Nephropathy, Familial Juvenile, 1 |
43 |
1092 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
1093 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
43 |
1094 |
c
|
FML117 |
Familial Cold Autoinflammatory Syndrome 2 |
43 |
1095 |
c
|
SRC023 |
Sarcoidosis 2 |
43 |
1096 |
|
SCH037 |
Schinzel-Giedion Midface Retraction Syndrome |
43 |
1097 |
c
|
PLY171 |
Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease |
42 |
1098 |
|
BNS003 |
Binswanger's Disease |
42 |
1099 |
|
ONC003 |
Oncogenic Osteomalacia |
42 |
1100 |
|
LPP002 |
Lipoprotein Glomerulopathy |
42 |
1101 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
42 |
1102 |
|
RNL094 |
Renal Dysplasia, Cystic |
42 |
1103 |
c
|
NPH069 |
Nephronophthisis 15 |
42 |
1104 |
c
|
NNN021 |
Noonan Syndrome 8 |
41 |
1105 |
c
|
ATS082 |
Autosomal Dominant Robinow Syndrome |
41 |
1106 |
c
|
NPH075 |
Nephronophthisis 18 |
41 |
1107 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
41 |
1108 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
41 |
1109 |
c
|
HNF003 |
Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
41 |
1110 |
|
HYP187 |
Hypertryptophanemia |
41 |
1111 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
40 |
1112 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
40 |
1113 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
40 |
1114 |
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
40 |
1115 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
40 |
1116 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
40 |
1117 |
|
KLL014 |
Kelley-Seegmiller Syndrome |
39 |
1118 |
c
|
JVN041 |
Juvenile Nephronophthisis |
39 |
1119 |
c
|
NNN009 |
Noonan Syndrome 2 |
39 |
1120 |
c
|
FCL026 |
Focal Segmental Glomerulosclerosis 2 |
39 |
1121 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
39 |
1122 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
39 |
1123 |
|
CDQ001 |
Cauda Equina Syndrome |
38 |
1124 |
c
|
SYS043 |
Systemic Lupus Erythematosus 1 |
38 |
1125 |
c
|
AML017 |
Amelogenesis Imperfecta, Type Ib |
37 |
1126 |
P
|
FML187 |
Familial Hypertension |
37 |
1127 |
c
|
NNN012 |
Noonan Syndrome 5 |
37 |
1128 |
c
|
XNT011 |
Xanthinuria, Type Ii |
37 |
1129 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
37 |
1130 |
c
|
NNN020 |
Noonan Syndrome 7 |
36 |
1131 |
|
NPH013 |
Nephrogenic Syndrome of Inappropriate Antidiuresis |
36 |
1132 |
c
|
SYS061 |
Systemic Lupus Erythematosus 16 |
36 |
1133 |
c
|
AML061 |
Amelogenesis Imperfecta, Type Ie |
36 |
1134 |
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
35 |
1135 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
35 |
1136 |
c
|
HYP438 |
Hyperaldosteronism, Familial, Type Iii |
35 |
1137 |
c
|
FNC059 |
Fanconi-Like Syndrome |
35 |
1138 |
c
|
FCL028 |
Focal Segmental Glomerulosclerosis 5 |
35 |
1139 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
34 |
1140 |
|
MTC030 |
Mitochondrial Complex V Deficiency, Nuclear Type 3 |
34 |
1141 |
c
|
AML050 |
Amelogenesis Imperfecta, Type if |
34 |
1142 |
|
OLG021 |
Oligomeganephronia |
33 |
1143 |
c
|
FCL043 |
Focal Segmental Glomerulosclerosis 6 |
33 |
1144 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
1145 |
c
|
NPH042 |
Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 |
32 |
1146 |
|
TRL002 |
Tarlov Cysts |
32 |
1147 |
|
CNZ004 |
Coenzyme Q10 Deficiency, Primary, 3 |
32 |
1148 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
1149 |
c
|
NNN025 |
Noonan Syndrome 10 |
32 |
1150 |
c
|
FCL085 |
Focal Segmental Glomerulosclerosis 7 |
32 |
1151 |
|
PDN001 |
Pudendal Neuralgia |
31 |
1152 |
c
|
SHR104 |
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly |
30 |
1153 |
|
PCM002 |
Pauci-Immune Glomerulonephritis |
30 |
1154 |
|
GLN006 |
Glandular Cystitis |
30 |
1155 |
c
|
THR044 |
Thrombotic Thrombocytopenic Purpura, Acquired |
30 |
1156 |
P
|
VNM004 |
Van Maldergem Syndrome |
29 |
1157 |
c
|
AML018 |
Amelogenesis Imperfecta, Type Ic |
29 |
1158 |
|
MLT165 |
Multilocular Cystic Renal Neoplasm of Low Malignant Potential |
28 |
1159 |
|
EPD025 |
Epidermolysis Bullosa with Pyloric Atresia |
28 |
1160 |
c
|
HYP813 |
Hyperuricemic Nephropathy, Familial Juvenile, 2 |
27 |
1161 |
c
|
JVN019 |
Juvenile Temporal Arteritis |
27 |
1162 |
c
|
BNG021 |
Benign Essential Hypertension |
26 |
1163 |
P
|
RNL123 |
Renal Agenesis, Bilateral |
26 |
1164 |
|
GLY111 |
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib |
26 |
1165 |
c
|
SYS038 |
Systemic Lupus Erythematosus 2 |
26 |
1166 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
26 |
1167 |
|
3HY001 |
3-Hydroxyisobutyric Aciduria |
26 |
1168 |
|
MCN004 |
Mucinous Tubular and Spindle Renal Cell Carcinoma |
25 |
1169 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
25 |
1170 |
|
IMM053 |
Immunotactoid Glomerulopathy |
25 |
1171 |
c
|
NNN034 |
Noonan Syndrome 12 |
24 |
1172 |
c
|
RBN023 |
Robinow Syndrome, Autosomal Recessive 2 |
24 |
1173 |
c
|
NNN029 |
Noonan Syndrome 11 |
24 |
1174 |
c
|
FML270 |
Familial Cold Autoinflammatory Syndrome 4 |
23 |
1175 |
|
NRS001 |
Neuroschistosomiasis |
23 |
1176 |
P
|
DRR020 |
Diarrhea 10, Protein-Losing Enteropathy Type |
23 |
1177 |
c
|
PLY173 |
Polycystic Liver Disease 2 with or Without Kidney Cysts |
23 |
1178 |
|
OCL073 |
Oculoskeletodental Syndrome |
23 |
1179 |
|
URC004 |
Urachal Cancer |
23 |
1180 |
c
|
MLG039 |
Malignant Essential Hypertension |
22 |
1181 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
22 |
1182 |
|
RNL089 |
Renal Nutcracker Syndrome |
22 |
1183 |
c
|
SYS069 |
Systemic Lupus Erythematosus 6 |
21 |
1184 |
c
|
SYS046 |
Systemic Lupus Erythematosus 3 |
21 |
1185 |
c
|
SYS040 |
Systemic Lupus Erythematosus 10 |
21 |
1186 |
P
|
HYP868 |
Hypophosphatemic Nephrolithiasis/osteoporosis |
21 |
1187 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
21 |
1188 |
c
|
GLC115 |
Galactosemia Iv |
20 |
1189 |
c
|
SRC024 |
Sarcoidosis 3 |
20 |
1190 |
c
|
SYS051 |
Systemic Lupus Erythematosus 4 |
20 |
1191 |
|
FBL018 |
Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities |
20 |
1192 |
|
DPL007 |
Duplication of Urethra |
20 |
1193 |
c
|
BRT024 |
Bartter Syndrome Type 4 |
20 |
1194 |
c
|
SYS041 |
Systemic Lupus Erythematosus 9 |
19 |
1195 |
c
|
MLG080 |
Malignant Secondary Hypertension |
19 |
1196 |
c
|
AML064 |
Amelogenesis Imperfecta, Type Iiic |
19 |
1197 |
c
|
PLY175 |
Polycystic Liver Disease 4 with or Without Kidney Cysts |
19 |
1198 |
c
|
SYS053 |
Systemic Lupus Erythematosus 5 |
19 |
1199 |
|
HVY003 |
Heavy Chain Deposition Disease |
19 |
1200 |
|
ALN003 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
18 |
1201 |
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
18 |
1202 |
|
PHS019 |
Phosphohydroxylysinuria |
18 |
1203 |
c
|
DRR019 |
Diarrhea 7, Protein-Losing Enteropathy Type |
18 |
1204 |
c
|
SYS065 |
Systemic Lupus Erythematosus 11 |
17 |
1205 |
|
DYS180 |
Dyschondrosteosis and Nephritis |
17 |
1206 |
c
|
SYS048 |
Systemic Lupus Erythematosus 8 |
17 |
1207 |
|
RRC029 |
Rare Cause of Hypertension |
17 |
1208 |
c
|
SYS052 |
Systemic Lupus Erythematosus 13 |
16 |
1209 |
|
PTN009 |
Patent Urachus |
16 |
1210 |
c
|
CHR471 |
Chronic Hepatic Porphyria |
16 |
1211 |
c
|
SYS055 |
Systemic Lupus Erythematosus 12 |
16 |
1212 |
c
|
AML056 |
Amelogenesis Imperfecta, Type Iiib |
16 |
1213 |
|
NPH082 |
Nephrosis with Deafness and Urinary Tract and Digital Malformations |
15 |
1214 |
c
|
HYP809 |
Hypercalciuria, Absorptive, 1 |
15 |
1215 |
|
RRR010 |
Rare Renal Tumor |
15 |
1216 |
c
|
SYS047 |
Systemic Lupus Erythematosus 7 |
14 |
1217 |
|
APV001 |
Aapoaiv Amyloidosis |
14 |
1218 |
|
LGH014 |
Light and Heavy Chain Deposition Disease |
14 |
1219 |
|
RNL109 |
Renal Hypoplasia, Bilateral |
14 |
1220 |
|
GRH002 |
Graham Boyle Troxell Syndrome |
14 |
1221 |
c
|
RR2001 |
Ror2-Related Robinow Syndrome |
13 |
1222 |
|
URC012 |
Urachal Sinus |
13 |
1223 |
|
MLT112 |
Multiloculated Renal Cyst |
13 |
1224 |
c
|
SYS045 |
Systemic Lupus Erythematosus 14 |
13 |
1225 |
c
|
PRM222 |
Primary Polyarteritis Nodosa |
13 |
1226 |
c
|
SYS067 |
Systemic Lupus Erythematosus 15 |
12 |
1227 |
c
|
PLV014 |
Pelvic Organ Prolapse 2 |
12 |
1228 |
c
|
BNG034 |
Benign Secondary Hypertension |
11 |
1229 |
c
|
HYP447 |
Hypertension, Essential 1 |
11 |
1230 |
c
|
HYP449 |
Hypertension, Essential 3 |
11 |
1231 |
c
|
HYP452 |
Hypertension, Essential 6 |
11 |
1232 |
c
|
HYP448 |
Hypertension, Essential 2 |
10 |
1233 |
c
|
HYP450 |
Hypertension, Essential 4 |
10 |
1234 |
|
RNL032 |
Renal Caliceal Diverticuli Deafness |
10 |
1235 |
c
|
HYP451 |
Hypertension, Essential 5 |
10 |
1236 |
c
|
HYP454 |
Hypertension, Essential 8 |
10 |
1237 |
c
|
AML063 |
Amelogenesis Imperfecta Type 2a1 |
9 |
1238 |
c
|
HYP453 |
Hypertension, Essential 7 |
9 |
1239 |
|
CNG337 |
Congenital Renal Artery Stenosis |
9 |
1240 |
|
ERY041 |
Erythrocyte Galactose Epimerase Deficiency |
9 |
1241 |
|
RNL107 |
Renal Dysplasia, Bilateral |
9 |
1242 |
|
RNL106 |
Renal Dysplasia, Unilateral |
8 |
1243 |
|
SNG013 |
Single-Organ Polyarteritis Nodosa |
8 |
1244 |
|
RNL108 |
Renal Hypoplasia, Unilateral |
8 |
1245 |
c
|
ALP107 |
Alpha-Thalassemia and Related Diseases |
7 |
1246 |
P
|
JVN036 |
Juvenile Sialidosis Type 2 |
7 |
1247 |
c
|
CNG348 |
Congenital Sialidosis Type 2 |
7 |
1248 |
|
IDP097 |
Idiopathic Non-Lupus Full-House Nephropathy |
6 |
1249 |
c
|
HYP869 |
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor |
6 |
1250 |
c
|
RNL090 |
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion |
6 |
1251 |
|
HYP492 |
Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation |
6 |
1252 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
6 |
1253 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
6 |
1254 |
c
|
BTT015 |
Beta-Thalassemia and Related Diseases |
5 |
1255 |
c
|
ATS111 |
Autosomal Dominant Proximal Renal Tubular Acidosis |
5 |
1256 |
|
CNG583 |
Congenital Urachal Anomaly |
5 |
1257 |
|
PCM004 |
Pauci-Immune Glomerulonephritis with Anca |
5 |
1258 |
|
NNS058 |
Non-Syndromic Renal or Urinary Tract Malformation |
4 |
1259 |
|
INH026 |
Inherited Renal Cancer-Predisposing Syndrome |
3 |
1260 |
|
GNT181 |
Genetic Primary Hypomagnesemia with Hypocalciuria |
3 |
1261 |
|
NPH112 |
Nephrotic Syndrome Without Extrarenal Manifestations |
3 |
1262 |
|
SYS079 |
Systemic Vasculitis Associated with Glomerulopathy |
3 |
1263 |
|
URN009 |
Urinary System Disease |
48 |
1264 |
|
KRN001 |
Korean Hemorrhagic Fever |
35 |
1265 |
|
RNL012 |
Renal Tuberculosis |
33 |
1266 |
c
|
KDN012 |
Kidney Carcinoma in Situ |
6 |
1267 |
|
VSC006 |
Vascular Cancer |
51 |
1268 |
|
PRT010 |
Parathyroid Carcinoma |
67 |
1269 |
|
RNL065 |
Renal Cell Carcinoma, Papillary, 1 |
73 |
1270 |
P
|
OST001 |
Osteopetrosis |
70 |
1271 |
c
|
CHR684 |
Chronic Kidney Disease |
70 |
1272 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
68 |
1273 |
|
FCT007 |
Factor Vii Deficiency |
67 |
1274 |
c
|
TYR012 |
Tyrosinemia, Type I |
66 |
1275 |
c
|
DBT091 |
Diabetes Insipidus, Nephrogenic, Autosomal |
66 |
1276 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
1277 |
P
|
RHB008 |
Rhabdoid Tumor Predisposition Syndrome 1 |
65 |
1278 |
|
ALP103 |
Alpha-1-Antitrypsin Deficiency |
64 |
1279 |
|
HJD001 |
Hajdu-Cheney Syndrome |
64 |
1280 |
|
CYS013 |
Cystinuria |
63 |
1281 |
P
|
PRP029 |
Porphyria |
62 |
1282 |
P
|
INT143 |
Interstitial Cystitis |
61 |
1283 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
61 |
1284 |
P
|
CTR002 |
Cataract |
60 |
1285 |
|
NLP001 |
Nail-Patella Syndrome |
60 |
1286 |
c
|
PSD114 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
59 |
1287 |
|
DBN001 |
Dubin-Johnson Syndrome |
59 |
1288 |
P
|
LDD007 |
Liddle Syndrome 1 |
59 |
1289 |
P
|
TYR004 |
Tyrosinemia |
58 |
1290 |
P
|
PLY041 |
Polymyositis |
57 |
1291 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
57 |
1292 |
|
PLY023 |
Polycystic Liver Disease |
57 |
1293 |
P
|
FCL005 |
Focal Segmental Glomerulosclerosis |
57 |
1294 |
P
|
URF003 |
Urofacial Syndrome 1 |
57 |
1295 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
1296 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
57 |
1297 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
56 |
1298 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
55 |
1299 |
|
PTS001 |
Patau Syndrome |
55 |
1300 |
P
|
TWN003 |
Townes-Brocks Syndrome |
55 |
1301 |
c
|
OST163 |
Osteopetrosis, Autosomal Recessive 3 |
55 |
1302 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
55 |
1303 |
c
|
OST131 |
Osteopetrosis, Autosomal Dominant 2 |
53 |
1304 |
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
52 |
1305 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
52 |
1306 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1307 |
|
MCR088 |
Microscopic Polyangiitis |
51 |
1308 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
51 |
1309 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
51 |
1310 |
c
|
ACT078 |
Acute Porphyria |
51 |
1311 |
c
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
50 |
1312 |
|
HRT031 |
Hartnup Disorder |
50 |
1313 |
c
|
AMY009 |
Amyloidosis Aa |
50 |
1314 |
|
RNL078 |
Renal Dysplasia |
50 |
1315 |
|
RNL011 |
Renal Osteodystrophy |
50 |
1316 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
49 |
1317 |
c
|
OST126 |
Osteopetrosis, Autosomal Recessive 1 |
49 |
1318 |
|
MYL003 |
Myeloid Sarcoma |
49 |
1319 |
c
|
OST136 |
Osteopetrosis, Autosomal Recessive 7 |
49 |
1320 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
49 |
1321 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
48 |
1322 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
48 |
1323 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
48 |
1324 |
|
HLX001 |
Helix Syndrome |
47 |
1325 |
|
PHS004 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
47 |
1326 |
c
|
TYR013 |
Tyrosinemia, Type Ii |
47 |
1327 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
47 |
1328 |
|
LMT001 |
Limited Scleroderma |
47 |
1329 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
47 |
1330 |
c
|
CTR098 |
Cataract 1, Multiple Types |
46 |
1331 |
c
|
GLC111 |
Galactosemia Ii |
46 |
1332 |
P
|
BRT053 |
Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness |
46 |
1333 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
46 |
1334 |
c
|
BRT042 |
Bartter Syndrome, Type 3 |
46 |
1335 |
c
|
OST134 |
Osteopetrosis, Autosomal Recessive 6 |
46 |
1336 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
46 |
1337 |
P
|
TRN034 |
Transverse Myelitis |
45 |
1338 |
c
|
OST137 |
Osteopetrosis, Autosomal Recessive 4 |
45 |
1339 |
|
GLC022 |
Glucose/galactose Malabsorption |
45 |
1340 |
P
|
GNT009 |
Giant Axonal Neuropathy |
45 |
1341 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
45 |
1342 |
|
CMP042 |
Complement Factor H Deficiency |
45 |
1343 |
|
PLS029 |
Plasminogen Activator Inhibitor-1 Deficiency |
45 |
1344 |
c
|
OST120 |
Osteopetrosis, Autosomal Recessive 5 |
45 |
1345 |
c
|
CTR103 |
Cataract 4, Multiple Types |
45 |
1346 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
45 |
1347 |
c
|
CTR096 |
Cataract 6, Multiple Types |
45 |
1348 |
c
|
OST129 |
Osteopetrosis, Autosomal Recessive 2 |
44 |
1349 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
44 |
1350 |
|
CTY001 |
Cat Eye Syndrome |
44 |
1351 |
|
ANG060 |
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps |
44 |
1352 |
P
|
HYP761 |
Hypouricemia, Renal, 1 |
44 |
1353 |
|
HYP827 |
Hypomagnesemia 5, Renal, with or Without Ocular Involvement |
44 |
1354 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
44 |
1355 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
1356 |
|
CNG029 |
Congenital Mesoblastic Nephroma |
44 |
1357 |
P
|
BRN042 |
Branchiootic Syndrome |
44 |
1358 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
1359 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
1360 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
1361 |
|
PRM237 |
Primary Hypomagnesemia |
43 |
1362 |
P
|
IMR002 |
Imerslund-Grasbeck Syndrome 1 |
43 |
1363 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
43 |
1364 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
43 |
1365 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
1366 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
43 |
1367 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
42 |
1368 |
|
MTH077 |
Methylmalonic Aciduria, Cbla Type |
42 |
1369 |
P
|
DST107 |
Distal Renal Tubular Acidosis |
42 |
1370 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
42 |
1371 |
|
BP1002 |
Bap1 Tumor Predisposition Syndrome |
42 |
1372 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
42 |
1373 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
42 |
1374 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
42 |
1375 |
|
HYP648 |
Hypertension and Brachydactyly Syndrome |
42 |
1376 |
|
MLT084 |
Multicystic Dysplastic Kidney |
42 |
1377 |
|
ARC002 |
Arachnoiditis |
42 |
1378 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
41 |
1379 |
c
|
CTR132 |
Cataract 3, Multiple Types |
41 |
1380 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
41 |
1381 |
c
|
NPH056 |
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 |
41 |
1382 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
41 |
1383 |
c
|
CTR118 |
Cataract 14, Multiple Types |
41 |
1384 |
|
CNZ006 |
Coenzyme Q10 Deficiency, Primary, 1 |
41 |
1385 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
41 |
1386 |
c
|
CTR183 |
Cataract 38 |
40 |
1387 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
1388 |
|
MDL009 |
Medullary Sponge Kidney |
40 |
1389 |
c
|
TYR011 |
Tyrosinemia, Type Iii |
40 |
1390 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
40 |
1391 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
40 |
1392 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
40 |
1393 |
|
LGH004 |
Light Chain Deposition Disease |
40 |
1394 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
40 |
1395 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
40 |
1396 |
c
|
PSD092 |
Pseudohypoaldosteronism, Type Iie |
39 |
1397 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
39 |
1398 |
P
|
FML156 |
Familial Hyperaldosteronism |
39 |
1399 |
c
|
CTR130 |
Cataract 9, Multiple Types |
39 |
1400 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
39 |
1401 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
39 |
1402 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
39 |
1403 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
38 |
1404 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
1405 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
38 |
1406 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
1407 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
38 |
1408 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
38 |
1409 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
1410 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
38 |
1411 |
c
|
ACT159 |
Acute Transverse Myelitis |
38 |
1412 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
38 |
1413 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
38 |
1414 |
|
2MT003 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
38 |
1415 |
c
|
CTR115 |
Cataract 16, Multiple Types |
37 |
1416 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
37 |
1417 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
37 |
1418 |
|
GNT179 |
Genetic Steroid-Resistant Nephrotic Syndrome |
37 |
1419 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
37 |
1420 |
c
|
CTR113 |
Cataract 11, Multiple Types |
37 |
1421 |
|
CFH006 |
Cfhr5 Deficiency |
37 |
1422 |
c
|
ATS282 |
Autosomal Recessive Malignant Osteopetrosis |
37 |
1423 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
36 |
1424 |
|
GRN034 |
Grange Syndrome |
36 |
1425 |
c
|
CTR141 |
Cataract 21, Multiple Types |
36 |
1426 |
c
|
CTR174 |
Cataract 40 |
36 |
1427 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
36 |
1428 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
35 |
1429 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
35 |
1430 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
35 |
1431 |
c
|
CTR129 |
Cataract 31, Multiple Types |
35 |
1432 |
c
|
CTR095 |
Cataract 8, Multiple Types |
35 |
1433 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
35 |
1434 |
c
|
CTR170 |
Cataract 30, Multiple Types |
35 |
1435 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
35 |
1436 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
35 |
1437 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
35 |
1438 |
P
|
RNL059 |
Renal-Hepatic-Pancreatic Dysplasia |
35 |
1439 |
|
TBS001 |
Tabes Dorsalis |
34 |
1440 |
P
|
MDL008 |
Medullary Cystic Kidney Disease 1 |
34 |
1441 |
c
|
TYP024 |
Type Ii Mixed Cryoglobulinemia |
34 |
1442 |
c
|
CTR145 |
Cataract 44 |
34 |
1443 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
34 |
1444 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
1445 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
34 |
1446 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
1447 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
34 |
1448 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
33 |
1449 |
c
|
CTR111 |
Cataract 36 |
33 |
1450 |
c
|
CTR181 |
Cataract 18 |
33 |
1451 |
|
CHR581 |
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb |
32 |
1452 |
|
GLB024 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
32 |
1453 |
c
|
HYP600 |
Hyperaldosteronism, Familial, Type Ii |
32 |
1454 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
32 |
1455 |
c
|
OST125 |
Osteopetrosis, Autosomal Dominant 1 |
32 |
1456 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
32 |
1457 |
|
MTH013 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
32 |
1458 |
c
|
CTR185 |
Cataract 30 |
32 |
1459 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
31 |
1460 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
1461 |
c
|
PSD104 |
Pseudohypoparathyroidism, Type Ii |
31 |
1462 |
|
PRT094 |
Protoporphyria, Erythropoietic, X-Linked |
31 |
1463 |
c
|
CTR102 |
Cataract 2, Multiple Types |
31 |
1464 |
c
|
CTR097 |
Cataract 34, Multiple Types |
31 |
1465 |
c
|
DNT021 |
Dent Disease 2 |
30 |
1466 |
c
|
HYP708 |
Hyperaldosteronism, Familial, Type Iv |
30 |
1467 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
30 |
1468 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
30 |
1469 |
c
|
SPS021 |
Spastic Paraplegia 10 |
30 |
1470 |
c
|
CTR119 |
Cataract 32, Multiple Types |
29 |
1471 |
c
|
CTR175 |
Cataract 24 |
29 |
1472 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
29 |
1473 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
1474 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
1475 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
29 |
1476 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
29 |
1477 |
c
|
BRN128 |
Branchiootic Syndrome 3 |
29 |
1478 |
|
RNL039 |
Renal Dysplasia-Limb Defects Syndrome |
28 |
1479 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
28 |
1480 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
28 |
1481 |
c
|
CTR121 |
Cataract 25 |
28 |
1482 |
c
|
RHB011 |
Rhabdoid Tumor Predisposition Syndrome 2 |
28 |
1483 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
28 |
1484 |
c
|
SPS091 |
Spastic Paraplegia 4 |
28 |
1485 |
c
|
CTR166 |
Cataract 33, Multiple Types |
28 |
1486 |
c
|
CTR187 |
Cataract 48 |
28 |
1487 |
c
|
CTR158 |
Cataract 37 |
27 |
1488 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
27 |
1489 |
c
|
CTR131 |
Cataract 17, Multiple Types |
27 |
1490 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
27 |
1491 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
1492 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
1493 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
1494 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
1495 |
c
|
CTR125 |
Cataract 7 |
27 |
1496 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
27 |
1497 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
27 |
1498 |
c
|
CTR124 |
Cataract 10, Multiple Types |
27 |
1499 |
|
KHN002 |
Khan-Khan-Katsanis Syndrome |
27 |
1500 |
c
|
SYS066 |
Systemic Polyarteritis Nodosa |
26 |
1501 |
P
|
SPS012 |
Spastic Paraplegia 3a |
26 |
1502 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
26 |
1503 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
26 |
1504 |
P
|
TTR028 |
Tetraamelia Syndrome 1 |
25 |
1505 |
c
|
SPS092 |
Spastic Paraplegia 11 |
25 |
1506 |
c
|
CTR182 |
Cataract 23, Multiple Types |
25 |
1507 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
1508 |
c
|
CTR165 |
Cataract 19, Multiple Types |
25 |
1509 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
25 |
1510 |
c
|
CTR105 |
Cataract 12, Multiple Types |
25 |
1511 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
24 |
1512 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
24 |
1513 |
|
STN006 |
Steinfeld Syndrome |
24 |
1514 |
|
CLR112 |
Clear Cell Papillary Renal Cell Carcinoma |
24 |
1515 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
23 |
1516 |
c
|
CTR110 |
Cataract 26, Multiple Types |
23 |
1517 |
c
|
SPS025 |
Spastic Paraplegia 15 |
23 |
1518 |
c
|
CTR136 |
Cataract 41 |
23 |
1519 |
c
|
CTR162 |
Cataract 47 |
23 |
1520 |
c
|
CTR157 |
Cataract 28 |
23 |
1521 |
c
|
LDD008 |
Liddle Syndrome 2 |
23 |
1522 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
23 |
1523 |
c
|
SPS027 |
Spastic Paraplegia 17 |
22 |
1524 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
1525 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
22 |
1526 |
c
|
TWN010 |
Townes-Brocks Syndrome 2 |
22 |
1527 |
c
|
BLC018 |
Bile Acid Synthesis Defect, Congenital, 6 |
22 |
1528 |
c
|
CTR169 |
Cataract 29 |
22 |
1529 |
P
|
HYP834 |
Hypomagnesemia, Seizures, and Mental Retardation 2 |
22 |
1530 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1531 |
c
|
OST171 |
Osteopetrosis, Autosomal Dominant 3 |
21 |
1532 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
21 |
1533 |
c
|
TTR029 |
Tetraamelia Syndrome 2 |
21 |
1534 |
c
|
CTR106 |
Cataract 20, Multiple Types |
21 |
1535 |
c
|
IMR003 |
Imerslund-Grasbeck Syndrome 2 |
21 |
1536 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
21 |
1537 |
c
|
HYP830 |
Hypomagnesemia, Seizures, and Mental Retardation 1 |
20 |
1538 |
c
|
BRN073 |
Branchiootic Syndrome 2 |
20 |
1539 |
c
|
CTR159 |
Cataract 35 |
20 |
1540 |
c
|
CTR144 |
Cataract 43 |
20 |
1541 |
|
CRM007 |
Crome Syndrome |
20 |
1542 |
c
|
CTR139 |
Cataract 42 |
20 |
1543 |
|
CRB163 |
Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome |
19 |
1544 |
c
|
SPS041 |
Spastic Paraplegia 6 |
19 |
1545 |
c
|
CTR160 |
Cataract 45 |
19 |
1546 |
|
CHR400 |
Chromosome 6q11-Q14 Deletion Syndrome |
18 |
1547 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
18 |
1548 |
|
FTL074 |
Fetal Lower Urinary Tract Obstruction |
18 |
1549 |
c
|
CTR178 |
Cataract 27 |
18 |
1550 |
c
|
SPS028 |
Spastic Paraplegia 18 |
17 |
1551 |
|
CNG532 |
Congenital Vertebral-Cardiac-Renal Anomalies Syndrome |
17 |
1552 |
c
|
LDD009 |
Liddle Syndrome 3 |
17 |
1553 |
|
FML315 |
Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia |
16 |
1554 |
c
|
CTR128 |
Cataract 33 |
16 |
1555 |
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
16 |
1556 |
c
|
SPS023 |
Spastic Paraplegia 13 |
16 |
1557 |
|
APM001 |
Aapoaii Amyloidosis |
15 |
1558 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
15 |
1559 |
c
|
SPS042 |
Spastic Paraplegia 9 |
15 |
1560 |
|
BLT020 |
Bilateral Multicystic Dysplastic Kidney |
15 |
1561 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
1562 |
c
|
CLC009 |
Clcn7-Related Osteopetrosis |
15 |
1563 |
c
|
SPS038 |
Spastic Paraplegia 39 |
14 |
1564 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
1565 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
1566 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
13 |
1567 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
13 |
1568 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
13 |
1569 |
c
|
SPS022 |
Spastic Paraplegia 12 |
13 |
1570 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
13 |
1571 |
|
TBL026 |
Tubulocystic Renal Cell Carcinoma |
13 |
1572 |
c
|
SPS035 |
Spastic Paraplegia 29 |
13 |
1573 |
c
|
MXD037 |
Mixed Cryoglobulinemia Type Iii |
13 |
1574 |
c
|
SPS034 |
Spastic Paraplegia 26 |
13 |
1575 |
|
ACQ048 |
Acquired Cystic Disease-Associated Renal Cell Carcinoma |
13 |
1576 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
12 |
1577 |
c
|
SPS033 |
Spastic Paraplegia 25 |
12 |
1578 |
c
|
SPS161 |
Spastic Paraplegia 32 |
12 |
1579 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
1580 |
c
|
SPS165 |
Spastic Paraplegia 47 |
12 |
1581 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
11 |
1582 |
c
|
SPS026 |
Spastic Paraplegia 16 |
11 |
1583 |
c
|
CTR025 |
Cataract, Total Congenital |
10 |
1584 |
c
|
RRP004 |
Rare Primary Hyperaldosteronism |
9 |
1585 |
|
NNM003 |
Non-Amyloid Monoclonal Immunoglobulin Deposition Disease |
8 |
1586 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
7 |
1587 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
1588 |
|
RRR011 |
Rare Renal Tubular Disease |
6 |
1589 |
c
|
SCN040 |
Secondary Acute Transverse Myelitis |
6 |
1590 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1591 |
|
DRG019 |
Drug-Related Renal Tubular Dysgenesis |
5 |
1592 |
|
SYN141 |
Syndromic Renal or Urinary Tract Malformation |
4 |
1593 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
4 |
1594 |
|
ADL092 |
Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome |
4 |
1595 |
|
IDP098 |
Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy |
4 |
1596 |
|
PSD120 |
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy |
3 |
1597 |
|
NPH110 |
Nephropathy Secondary to a Storage or Other Metabolic Disease |
3 |
1598 |
|
HMT022 |
Hematological Disorder with Renal Involvement |
3 |
1599 |
P
|
KDN017 |
Kidney Cancer |
60 |
1600 |
P
|
INT070 |
Intestinal Obstruction |
58 |
1601 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
56 |
1602 |
|
SCK003 |
Sickle Cell Anemia |
74 |
1603 |
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
1604 |
|
WLS001 |
Wilson Disease |
71 |
1605 |
P
|
AMY004 |
Amyloidosis |
70 |
1606 |
P
|
SYS005 |
Systemic Scleroderma |
68 |
1607 |
|
CHR103 |
Charge Syndrome |
67 |
1608 |
P
|
PRP003 |
Porphyria Cutanea Tarda |
67 |
1609 |
c
|
PSD108 |
Pseudohypoparathyroidism, Type Ia |
66 |
1610 |
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
65 |
1611 |
c
|
LCL006 |
Localized Scleroderma |
62 |
1612 |
P
|
MCH002 |
Machado-Joseph Disease |
62 |
1613 |
|
TKY002 |
Takayasu Arteritis |
62 |
1614 |
P
|
DRM010 |
Dermatomyositis |
61 |
1615 |
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
1616 |
c
|
HYP798 |
Hypophosphatemic Rickets, X-Linked Recessive |
60 |
1617 |
P
|
PLY017 |
Polyarteritis Nodosa |
58 |
1618 |
|
PPL048 |
Papillorenal Syndrome |
58 |
1619 |
|
BRG013 |
Buerger Disease |
58 |
1620 |
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
57 |
1621 |
|
GLT035 |
Glutaric Acidemia I |
57 |
1622 |
P
|
PSD015 |
Pseudohypoparathyroidism |
56 |
1623 |
c
|
FRS014 |
Fraser Syndrome 1 |
56 |
1624 |
c
|
PSD066 |
Pseudohypoparathyroidism, Type Ib |
55 |
1625 |
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
53 |
1626 |
|
CLL002 |
Collecting Duct Carcinoma |
53 |
1627 |
P
|
HML001 |
Hemolytic-Uremic Syndrome |
53 |
1628 |
c
|
FNC024 |
Fanconi Anemia, Complementation Group D1 |
52 |
1629 |
|
MGC002 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
52 |
1630 |
c
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
51 |
1631 |
P
|
OLV001 |
Olivopontocerebellar Atrophy |
51 |
1632 |
c
|
ALM001 |
Al Amyloidosis |
50 |
1633 |
c
|
HYP603 |
Hyperoxaluria, Primary, Type Iii |
50 |
1634 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
50 |
1635 |
c
|
CHR516 |
Charcot-Marie-Tooth Disease, Type 4c |
50 |
1636 |
P
|
CRY007 |
Cryoglobulinemia, Familial Mixed |
50 |
1637 |
|
INP001 |
Inappropriate Adh Syndrome |
49 |
1638 |
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
48 |
1639 |
|
IGG001 |
Iga Glomerulonephritis |
48 |
1640 |
c
|
CHR519 |
Charcot-Marie-Tooth Disease, Type 4b2 |
48 |
1641 |
c
|
CHR484 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
47 |
1642 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
47 |
1643 |
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
46 |
1644 |
|
HYP236 |
Hyperbilirubinemia, Rotor Type |
46 |
1645 |
c
|
CHR376 |
Charcot-Marie-Tooth Disease, Type 4d |
46 |
1646 |
c
|
CHR421 |
Charcot-Marie-Tooth Disease, Type 4h |
46 |
1647 |
c
|
HRD039 |
Hereditary Amyloidosis |
45 |
1648 |
c
|
CHR517 |
Charcot-Marie-Tooth Disease, Type 4a |
45 |
1649 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
45 |
1650 |
|
DNB001 |
Danubian Endemic Familial Nephropathy |
44 |
1651 |
P
|
HYP111 |
Hyperprolinemia |
44 |
1652 |
c
|
HYP210 |
Hypomagnesemia 2, Renal |
43 |
1653 |
|
RNL119 |
Renal Cell Carcinoma, Xp11-Associated |
43 |
1654 |
c
|
HYP597 |
Hyperprolinemia, Type Ii |
43 |
1655 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
41 |
1656 |
c
|
HYP248 |
Hyperprolinemia, Type I |
41 |
1657 |
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
41 |
1658 |
c
|
EHL080 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
41 |
1659 |
c
|
CHR522 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
41 |
1660 |
|
KDN007 |
Kidney Clear Cell Sarcoma |
40 |
1661 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
40 |
1662 |
P
|
MSC134 |
Musculocontractural Ehlers-Danlos Syndrome |
40 |
1663 |
|
VNT030 |
Ventriculomegaly with Cystic Kidney Disease |
39 |
1664 |
|
RHY001 |
Rhyns Syndrome |
38 |
1665 |
c
|
CHR658 |
Charcot-Marie-Tooth Disease, Recessive Intermediate a |
38 |
1666 |
c
|
PSD117 |
Pseudohypoparathyroidism, Type Ic |
38 |
1667 |
|
HYP249 |
Hyperthyroidism, Nonautoimmune |
36 |
1668 |
|
EPL199 |
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure |
36 |
1669 |
|
TTH004 |
Tethered Spinal Cord Syndrome |
35 |
1670 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
35 |
1671 |
c
|
CHR666 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
34 |
1672 |
c
|
ALG016 |
Alagille Syndrome 2 |
34 |
1673 |
P
|
GLM015 |
Glomerulopathy with Fibronectin Deposits 2 |
34 |
1674 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
34 |
1675 |
|
CNZ008 |
Coenzyme Q10 Deficiency, Primary, 6 |
33 |
1676 |
c
|
FRS016 |
Fraser Syndrome 2 |
33 |
1677 |
c
|
CHR481 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
32 |
1678 |
|
GLT011 |
Glutamine Deficiency, Congenital |
32 |
1679 |
c
|
FML324 |
Familial Porphyria Cutanea Tarda |
31 |
1680 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
31 |
1681 |
c
|
ADL027 |
Adult Dermatomyositis |
30 |
1682 |
|
CYS046 |
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type |
30 |
1683 |
c
|
CHR491 |
Charcot-Marie-Tooth Disease, Dominant Intermediate a |
30 |
1684 |
|
BTT013 |
Beta-Thalassemia, Dominant Inclusion Body Type |
30 |
1685 |
|
IDP085 |
Idiopathic Infantile Hypercalcemia |
28 |
1686 |
|
CTN019 |
Cutaneous Polyarteritis Nodosa |
27 |
1687 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
27 |
1688 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
27 |
1689 |
|
BFD002 |
Bifid Nose with or Without Anorectal and Renal Anomalies |
27 |
1690 |
c
|
FRS015 |
Fraser Syndrome 3 |
26 |
1691 |
|
URC005 |
Urachal Cyst |
25 |
1692 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
25 |
1693 |
|
HYP481 |
Hyperbiliverdinemia |
25 |
1694 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
25 |
1695 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
24 |
1696 |
c
|
MCK026 |
Meckel Syndrome 12 |
24 |
1697 |
|
THY065 |
Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia |
24 |
1698 |
|
LGH017 |
Leigh Syndrome with Nephrotic Syndrome |
23 |
1699 |
c
|
CHR699 |
Charcot-Marie-Tooth Disease Type 2a2a |
23 |
1700 |
|
NRF010 |
Neurofaciodigitorenal Syndrome |
23 |
1701 |
c
|
CHR135 |
Charcot-Marie-Tooth Disease Type 2a |
22 |
1702 |
|
MSC089 |
Mosaic Monosomy X |
21 |
1703 |
|
INF164 |
Infantile Bartter Syndrome with Sensorineural Deafness |
20 |
1704 |
c
|
CHR549 |
Charcot-Marie-Tooth Disease Type 2l |
20 |
1705 |
c
|
GLM014 |
Glomerulopathy with Fibronectin Deposits 1 |
20 |
1706 |
c
|
JVN046 |
Juvenile Polymyositis |
19 |
1707 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
19 |
1708 |
|
THY044 |
Thymic-Renal-Anal-Lung Dysplasia |
18 |
1709 |
c
|
CHR700 |
Charcot-Marie-Tooth Disease Type 2a2b |
17 |
1710 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
17 |
1711 |
|
SPS196 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
17 |
1712 |
|
AFB003 |
Afib Amyloidosis |
16 |
1713 |
c
|
MCH013 |
Machado-Joseph Disease Type 3 |
16 |
1714 |
c
|
MCH012 |
Machado-Joseph Disease Type 1 |
16 |
1715 |
c
|
MCH014 |
Machado-Joseph Disease Type 2 |
16 |
1716 |
|
APM002 |
Aapoai Amyloidosis |
15 |
1717 |
c
|
OLV005 |
Olivopontocerebellar Atrophy V |
15 |
1718 |
|
DBT089 |
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification |
14 |
1719 |
|
DMN034 |
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis |
13 |
1720 |
P
|
FRS017 |
Fraser-Like Syndrome |
13 |
1721 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
12 |
1722 |
c
|
ATS165 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
12 |
1723 |
|
DNT019 |
Daentl Towsend Siegel Syndrome |
12 |
1724 |
c
|
OLV006 |
Olivopontocerebellar Atrophy Ii, Autosomal Recessive |
12 |
1725 |
c
|
SCN055 |
Secondary Polyarteritis Nodosa |
9 |
1726 |
c
|
CHR701 |
Charcot-Marie-Tooth Disease Type 1g |
9 |
1727 |
c
|
DNJ004 |
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 |
8 |
1728 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
1729 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
7 |
1730 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
7 |
1731 |
|
MTC093 |
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form |
7 |
1732 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
6 |
1733 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
5 |
1734 |
c
|
DPL004 |
D-Plus Hemolytic Uremic Syndrome |
4 |
1735 |
P
|
LYN001 |
Lynch Syndrome |
77 |
1736 |
P
|
FML018 |
Familial Mediterranean Fever |
73 |
1737 |
|
CHL065 |
Cholangiocarcinoma |
68 |
1738 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
66 |
1739 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
1740 |
|
MCK007 |
Muckle-Wells Syndrome |
65 |
1741 |
|
PRP083 |
Porphyria, Acute Intermittent |
64 |
1742 |
P
|
HYP609 |
Hypophosphatemic Rickets, X-Linked Dominant |
64 |
1743 |
|
BRT002 |
Birt-Hogg-Dube Syndrome |
63 |
1744 |
|
ELL001 |
Ellis-Van Creveld Syndrome |
62 |
1745 |
P
|
DNT020 |
Dent Disease 1 |
62 |
1746 |
c
|
ORF037 |
Orofaciodigital Syndrome I |
60 |
1747 |
c
|
LYN004 |
Lynch Syndrome I |
60 |
1748 |
c
|
HYP731 |
Hyperaldosteronism, Familial, Type I |
60 |
1749 |
|
HYP257 |
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
59 |
1750 |
|
SPS150 |
Spastic Ataxia, Charlevoix-Saguenay Type |
58 |
1751 |
|
MXD005 |
Mixed Connective Tissue Disease |
58 |
1752 |
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
1753 |
|
AMY082 |
Amyloidosis, Familial Visceral |
57 |
1754 |
|
FRC011 |
Fructose Intolerance, Hereditary |
57 |
1755 |
P
|
SNR003 |
Senior-Loken Syndrome 1 |
56 |
1756 |
|
CNN011 |
Cenani-Lenz Syndactyly Syndrome |
55 |
1757 |
|
FRS002 |
Frasier Syndrome |
55 |
1758 |
|
HNC001 |
Henoch-Schoenlein Purpura |
55 |
1759 |
|
ADN024 |
Adenine Phosphoribosyltransferase Deficiency |
54 |
1760 |
|
PRS055 |
Pierson Syndrome |
53 |
1761 |
P
|
RNL028 |
Renal Tubular Dysgenesis |
51 |
1762 |
c
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
51 |
1763 |
|
SZR026 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance |
51 |
1764 |
|
DFF035 |
Diffuse Cutaneous Systemic Sclerosis |
49 |
1765 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
1766 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
47 |
1767 |
P
|
ECT100 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 |
46 |
1768 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
1769 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
1770 |
c
|
ECT042 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 |
44 |
1771 |
c
|
RNL047 |
Renal Tubular Acidosis, Distal, Autosomal Recessive |
42 |
1772 |
|
INF159 |
Infantile Sialic Acid Storage Disease |
41 |
1773 |
c
|
RNL046 |
Renal Tubular Acidosis, Distal, Autosomal Dominant |
37 |
1774 |
P
|
KYP005 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
34 |
1775 |
c
|
RNL113 |
Renal Failure, Progressive, with Hypertension |
34 |
1776 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
34 |
1777 |
|
MLL021 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies |
30 |
1778 |
|
ATM086 |
Autoimmune Interstitial Lung, Joint, and Kidney Disease |
30 |
1779 |
|
RNL120 |
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation |
28 |
1780 |
|
UTR057 |
Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis |
28 |
1781 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
27 |
1782 |
c
|
FML344 |
Familial Mediterranean Fever, Autosomal Dominant |
25 |
1783 |
c
|
MCK028 |
Meckel Syndrome 13 |
25 |
1784 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
22 |
1785 |
c
|
PLD003 |
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
21 |
1786 |
c
|
SNR011 |
Senior-Loken Syndrome 3 |
20 |
1787 |
|
OCL043 |
Oculorenocerebellar Syndrome |
20 |
1788 |
|
ANR044 |
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation |
18 |
1789 |
|
FML327 |
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis |
17 |
1790 |
|
BHC003 |
Behcet Syndrome |
71 |
1791 |
P
|
TRN020 |
Turner Syndrome |
67 |
1792 |
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
1793 |
|
GTL001 |
Gitelman Syndrome |
65 |
1794 |
|
PRP001 |
Propionic Acidemia |
65 |
1795 |
c
|
WLM013 |
Wilms Tumor 1 |
65 |
1796 |
|
PLL001 |
Pallister-Hall Syndrome |
64 |
1797 |
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
1798 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
60 |
1799 |
|
RNL024 |
Renal Glucosuria |
58 |
1800 |
|
CHL028 |
Childhood Type Dermatomyositis |
58 |
1801 |
|
DNY001 |
Denys-Drash Syndrome |
57 |
1802 |
|
PRN038 |
Prune Belly Syndrome |
56 |
1803 |
|
PSD014 |
Pseudopseudohypoparathyroidism |
55 |
1804 |
c
|
GLL038 |
Galloway-Mowat Syndrome 1 |
52 |
1805 |
|
MTH076 |
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency |
50 |
1806 |
|
HND004 |
Hand-Foot-Genital Syndrome |
48 |
1807 |
P
|
SLL003 |
Salla Disease |
48 |
1808 |
|
GRC001 |
Gracile Syndrome |
47 |
1809 |
P
|
BRN006 |
Branchiootorenal Syndrome |
46 |
1810 |
c
|
MLT127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
44 |
1811 |
|
TRN021 |
Transaldolase Deficiency |
43 |
1812 |
c
|
HYP753 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
42 |
1813 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
41 |
1814 |
|
BTR002 |
Beta-Ureidopropionase Deficiency |
41 |
1815 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
1816 |
|
MLY009 |
Molybdenum Cofactor Deficiency, Complementation Group B |
38 |
1817 |
|
MLN011 |
Malonyl-Coa Decarboxylase Deficiency |
38 |
1818 |
|
PLY158 |
Polyglucosan Body Neuropathy, Adult Form |
34 |
1819 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
30 |
1820 |
|
INT224 |
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital |
30 |
1821 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
29 |
1822 |
|
MCP039 |
Mucoepithelial Dysplasia, Hereditary |
29 |
1823 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
28 |
1824 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
25 |
1825 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
24 |
1826 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
21 |
1827 |
c
|
BRN138 |
Branchiootorenal Spectrum Disorder |
21 |
1828 |
|
NPH014 |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness |
20 |
1829 |
|
BRK013 |
Birk-Landau-Perez Syndrome |
19 |
1830 |
|
ICH068 |
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
18 |
1831 |
|
CNT103 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
15 |
1832 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
14 |
1833 |
c
|
INT094 |
Intermediate Severe Salla Disease |
12 |
1834 |
|
RHB001 |
Rhabdoid Cancer |
63 |
1835 |
P
|
PSD087 |
Pseudoxanthoma Elasticum |
65 |
1836 |
P
|
PLR004 |
Pleuropulmonary Blastoma |
65 |
1837 |
P
|
THR005 |
Thrombotic Thrombocytopenic Purpura |
61 |
1838 |
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
60 |
1839 |
|
PRL032 |
Perlman Syndrome |
57 |
1840 |
|
FNC009 |
Fanconi-Bickel Syndrome |
56 |
1841 |
|
SCH016 |
Schimke Immunoosseous Dysplasia |
55 |
1842 |
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
55 |
1843 |
|
MTH054 |
Methylmalonic Aciduria and Homocystinuria, Cblc Type |
54 |
1844 |
c
|
THR124 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
54 |
1845 |
|
FMR004 |
Fumarase Deficiency |
51 |
1846 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
51 |
1847 |
c
|
ORF040 |
Orofaciodigital Syndrome Viii |
50 |
1848 |
P
|
ORF001 |
Orofaciodigital Syndrome |
48 |
1849 |
|
MCR359 |
Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss |
47 |
1850 |
c
|
ORF035 |
Orofaciodigital Syndrome Iv |
47 |
1851 |
|
ARM010 |
Arima Syndrome |
46 |
1852 |
c
|
ORF033 |
Orofaciodigital Syndrome V |
44 |
1853 |
c
|
ORF043 |
Orofaciodigital Syndrome Ix |
37 |
1854 |
|
VRH001 |
Verheij Syndrome |
36 |
1855 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
36 |
1856 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
33 |
1857 |
|
HYP652 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
33 |
1858 |
c
|
ORF036 |
Orofaciodigital Syndrome Xiv |
30 |
1859 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
26 |
1860 |
c
|
ORF042 |
Orofaciodigital Syndrome Xi |
24 |
1861 |
c
|
ORF046 |
Orofaciodigital Syndrome Xvi |
24 |
1862 |
c
|
ORF052 |
Orofaciodigital Syndrome Xviii |
23 |
1863 |
c
|
ORF051 |
Orofaciodigital Syndrome Xvii |
23 |
1864 |
c
|
ORF045 |
Orofaciodigital Syndrome Xv |
21 |
1865 |
|
ATH012 |
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease |
21 |
1866 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
20 |
1867 |
c
|
TRN055 |
Turner Syndrome Due to Structural X Chromosome Anomalies |
18 |
1868 |
c
|
ACQ026 |
Acquired Pseudoxanthoma Elasticum |
13 |
1869 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
13 |
1870 |
c
|
ORF005 |
Orofaciodigital Syndrome 12 |
13 |
1871 |
c
|
PLR018 |
Pleuropulmonary Blastoma Type 1 |
9 |
1872 |
c
|
PLR020 |
Pleuropulmonary Blastoma Type 3 |
8 |
1873 |
c
|
PLR019 |
Pleuropulmonary Blastoma Type 2 |
7 |
1874 |
c
|
NRF023 |
Neurofibromatosis, Type Ii |
80 |
1875 |
c
|
NRF024 |
Neurofibromatosis, Type I |
77 |
1876 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
72 |
1877 |
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
69 |
1878 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
67 |
1879 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
65 |
1880 |
|
DGR001 |
Digeorge Syndrome |
64 |
1881 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
63 |
1882 |
|
NRM019 |
Neuraminidase Deficiency |
62 |
1883 |
c
|
MCP043 |
Mucopolysaccharidosis, Type Iiia |
61 |
1884 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
61 |
1885 |
c
|
MCP045 |
Mucopolysaccharidosis, Type Iiic |
59 |
1886 |
c
|
MCP044 |
Mucopolysaccharidosis, Type Iiib |
59 |
1887 |
|
LCT022 |
Lecithin:cholesterol Acyltransferase Deficiency |
58 |
1888 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
57 |
1889 |
c
|
GLC112 |
Galactosemia Iii |
56 |
1890 |
P
|
NRF002 |
Neurofibromatosis |
56 |
1891 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
52 |
1892 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
51 |
1893 |
|
RYN003 |
Reynolds Syndrome |
46 |
1894 |
c
|
HYP608 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
41 |
1895 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
40 |
1896 |
|
GRN037 |
Granulomatosis with Polyangiitis |
65 |
1897 |
P
|
GLC113 |
Galactosemia I |
64 |
1898 |
|
HRD029 |
Hereditary Leiomyomatosis and Renal Cell Cancer |
61 |
1899 |
|
STR094 |
Stromme Syndrome |
41 |