Search results for hypercalciuria

239 hits were found for hypercalciuria

# Family MCID Name MIFTS Score
1
P HYP733 Hypercalciuria, Absorptive, 2 37 8.305
2
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 27 6.373
3
HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49 5.943
4
c HYP534 Hypomagnesemia 3, Renal 37 4.801
5
c BRT050 Bartter Syndrome, Type 2, Antenatal 43 4.098
6
c BRT052 Bartter Syndrome, Type 1, Antenatal 29 4.084
7
P DNT020 Dent Disease 1 55 3.694
8
PRT121 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 19 3.597
9
c HYP809 Hypercalciuria, Absorptive, 1 10 3.524
10
IDP073 Idiopathic Hypercalciuria 46 3.353
11
P BRT004 Bartter Disease 52 2.897
12
FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 11 2.230
13
HYP775 Hyperparathyroidism, Neonatal Self-Limited Primary, with Hypercalciuria 9 2.104
14
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 32 2.061
15
NPH003 Nephrocalcinosis 49 0.360
16
RCK004 Rickets 63 0.240
17
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53 0.240
18
NPH009 Nephrolithiasis 57 0.233
19
P HYP726 Hypercalcemia, Infantile, 1 57 0.205
20
P HRD086 Hereditary Hypophosphatemic Rickets 36 0.201
21
P HYP802 Hypocalcemia, Autosomal Dominant 1 64 0.162
22
P HYP069 Hyperparathyroidism 58 0.132
23
NPH091 Nephrolithiasis, Calcium Oxalate 51 0.132
24
NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 29 0.132
25
P OST002 Osteoporosis 75 0.111
26
MDL009 Medullary Sponge Kidney 46 0.111
27
DWN001 Down Syndrome 70 0.103
28
P KDN018 Kidney Disease 69 0.103
29
P RNL007 Renal Tubular Acidosis 51 0.103
30
HYP017 Hypophosphatemia 45 0.103
31
P ANR048 Aniridia 1 68 0.094
32
P SRC025 Sarcoidosis 1 63 0.094
33
c PRM005 Primary Hyperparathyroidism 59 0.094
34
P FNC004 Fanconi Syndrome 54 0.094
35
OST011 Osteomalacia 52 0.094
36
CHN070 Cohen-Gibson Syndrome 51 0.094
37
c HYP438 Hyperaldosteronism, Familial, Type Iii 28 0.094
38
ANR038 Anorexia Nervosa 1 21 0.094
39
BLD137 Blood Group--Ahonen 17 0.094
40
CYS001 Cystic Fibrosis 85 0.084
41
WLS001 Wilson Disease 72 0.084
42
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.084
43
P BCK002 Beckwith-Wiedemann Syndrome 58 0.084
44
URN009 Urinary System Disease 58 0.084
45
P MYP006 Myopia 56 0.084
46
P HYP024 Hypoparathyroidism 55 0.084
47
P PSD003 Pseudohypoaldosteronism 47 0.084
48
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 46 0.084
49
HYP776 Hyperparathyroidism, Neonatal Severe 39 0.084
50
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.084
51
c BLD140 Blood Group, I System 37 0.084
52
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.084
53
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.084
54
c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 21 0.084
55
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.072
56
BRT054 Brittle Bone Disorder 67 0.072
57
P THL005 Thalassemia 65 0.072
58
AGN016 Aging 65 0.072
59
CYS013 Cystinuria 64 0.072
60
WLL001 Williams-Beuren Syndrome 63 0.072
61
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.072
62
P HYP035 Hypophosphatasia 58 0.072
63
CYS010 Cystinosis 55 0.072
64
FNC009 Fanconi-Bickel Syndrome 53 0.072
65
CLC001 Calciphylaxis 53 0.072
66
P PRM002 Primary Hyperoxaluria 53 0.072
67
HPT082 Hepatic Adenomas, Familial 52 0.072
68
PRT030 Parathyroid Gland Disease 50 0.072
69
RNL011 Renal Osteodystrophy 49 0.072
70
MTB004 Metabolic Acidosis 49 0.072
71
MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49 0.072
72
c HYP292 Hypophosphatasia, Infantile 48 0.072
73
HYP025 Hyperphosphatemia 48 0.072
74
P CHN059 Chondrocalcinosis 47 0.072
75
P AML002 Amelogenesis Imperfecta 46 0.072
76
c BRT042 Bartter Syndrome, Type 3 41 0.072
77
SCN001 Secondary Hyperparathyroidism of Renal Origin 40 0.072
78
PRM237 Primary Hypomagnesemia 40 0.072
79
P HYP761 Hypouricemia, Renal, 1 40 0.072
80
SLP010 Slipped Capital Femoral Epiphysis 37 0.072
81
HRS011 Horseshoe Kidney 35 0.072
82
PHS001 Phosphorus Metabolism Disease 34 0.072
83
MNR003 Mineral Metabolism Disease 33 0.072
84
ALR002 Al-Raqad Syndrome 30 0.072
85
c DNT021 Dent Disease 2 26 0.072
86
P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 21 0.072
87
P RHM011 Rheumatoid Arthritis 91 0.059
88
P ART022 Arthritis 77 0.059
89
P LKM002 Leukemia 75 0.059
90
c JVN010 Juvenile Rheumatoid Arthritis 71 0.059
91
ACR007 Acromegaly 70 0.059
92
CST001 Costello Syndrome 67 0.059
93
PRT010 Parathyroid Carcinoma 64 0.059
94
ADN018 Adenoma 63 0.059
95
GTL001 Gitelman Syndrome 62 0.059
96
P NPH012 Nephrotic Syndrome 60 0.059
97
P OST135 Osteogenesis Imperfecta, Type I 56 0.059
98
P MMB011 Membranous Nephropathy 55 0.059
99
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.059
100
HYP005 Hypokalemia 53 0.059
101
SPN020 Spondylosis 52 0.059
102
CLC006 Calcinosis 51 0.059
103
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 51 0.059
104
PRT029 Parathyroid Adenoma 50 0.059
105
CHL061 Childhood Leukemia 50 0.059
106
P PSD015 Pseudohypoparathyroidism 50 0.059
107
HYP741 Hyperparathyroidism 2 with Jaw Tumors 49 0.059
108
RTR008 Root Resorption 44 0.059
109
c XNT010 Xanthinuria, Type I 43 0.059
110
c HYP794 Hyperoxaluria, Primary, Type I 41 0.059
111
c HYP243 Hyperparathyroidism 1 40 0.059
112
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.059
113
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40 0.059
114
P XNT004 Xanthinuria 39 0.059
115
c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 37 0.059
116
c HYP311 Hyperparathyroidism 3 37 0.059
117
P PLN008 Peeling Skin Syndrome 37 0.059
118
c PSD092 Pseudohypoaldosteronism, Type Iie 37 0.059
119
c PLN018 Peeling Skin Syndrome 2 36 0.059
120
P ANT061 Antenatal Bartter Syndrome 35 0.059
121
c PSD090 Pseudohypoaldosteronism, Type Iia 32 0.059
122
BNR001 Bone Remodeling Disease 31 0.059
123
c HRD142 Hereditary Xanthinuria 30 0.059
124
c PRM200 Primary Fanconi Syndrome 27 0.059
125
RNL021 Renal Tubular Transport Disease 27 0.059
126
IDP085 Idiopathic Infantile Hypercalcemia 26 0.059
127
HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25 0.059
128
P RNL115 Renal Tubular Acidosis, Proximal 24 0.059
129
c FNC034 Fanconi Renotubular Syndrome 2 18 0.059
130
c HYP712 Hypercalcemia, Infantile, 2 17 0.059
131
MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 16 0.059
132
TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 13 0.059
133
c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12 0.059
134
ALP046 Alport Syndrome, X-Linked 74 0.042
135
CNG034 Congestive Heart Failure 74 0.042
136
LVR012 Liver Cirrhosis 73 0.042
137
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.042
138
P EPL164 Epilepsy 70 0.042
139
ATM095 Autoimmune Disease 66 0.042
140
NVS017 Nevus, Epidermal 66 0.042
141
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.042
142
P INT068 Intestinal Disease 65 0.042
143
c SCL052 Scleroderma, Familial Progressive 60 0.042
144
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.042
145
LCR014 Lacrimoauriculodentodigital Syndrome 59 0.042
146
URN010 Urinary Tract Obstruction 57 0.042
147
PLM010 Pulmonary Edema 57 0.042
148
BRN106 Burns 57 0.042
149
P LRY019 Laryngitis 57 0.042
150
P HYP076 Hyperthyroidism 56 0.042
151
STR020 Strabismus 55 0.042
152
ALB001 Albright's Hereditary Osteodystrophy 55 0.042
153
P SZR006 Seizure Disorder 55 0.042
154
ADM013 Adamantinoma of Long Bones 55 0.042
155
P HYP014 Hyperuricemia 54 0.042
156
c ACT071 Acute Kidney Failure 54 0.042
157
P OBS001 Obstructive Jaundice 53 0.042
158
ARM001 Aromatase Deficiency 52 0.042
159
HYP068 Hyperostosis 52 0.042
160
P INF037 Inflammatory Bowel Disease 52 0.042
161
RTN023 Retinitis 52 0.042
162
CLB010 Coloboma of Macula 52 0.042
163
P DPY001 Dupuytren Contracture 52 0.042
164
P PRC012 Pericardial Effusion 52 0.042
165
CMP002 Campylobacteriosis 51 0.042
166
CHL004 Cholelithiasis 51 0.042
167
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.042
168
TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50 0.042
169
CLD007 Cold Agglutinin Disease 50 0.042
170
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 50 0.042
171
RNL024 Renal Glucosuria 50 0.042
172
c PRD040 Periodontitis, Chronic 49 0.042
173
INT303 Intracranial Hypertension, Idiopathic 49 0.042
174
HPT014 Hepatorenal Syndrome 49 0.042
175
CYS039 Cystic Kidney Disease 49 0.042
176
c MLG069 Malignant Hypertension 49 0.042
177
PLM017 Pulmonary Alveolar Microlithiasis 48 0.042
178
P RNV001 Renovascular Hypertension 48 0.042
179
c HYP293 Hypophosphatasia, Adult 48 0.042
180
AST006 Astigmatism 48 0.042
181
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47 0.042
182
FML091 Familial Tumoral Calcinosis 46 0.042
183
ONC003 Oncogenic Osteomalacia 45 0.042
184
RNS001 Raine Syndrome 45 0.042
185
OST004 Osteitis Fibrosa 45 0.042
186
MSN001 Mesangial Proliferative Glomerulonephritis 45 0.042
187
BRN080 Brain Ischemia 45 0.042
188
URM005 Uremic Pruritus 43 0.042
189
MLR003 Melorheostosis 43 0.042
190
c OST131 Osteopetrosis, Autosomal Dominant 2 43 0.042
191
GLC086 Glucocorticoid-Induced Osteoporosis 42 0.042
192
P RNL045 Renal Tubular Acidosis, Distal 42 0.042
193
P CNG048 Congenital Hepatic Fibrosis 41 0.042
194
ADP007 Adie Pupil 41 0.042
195
c HYP057 Hypervitaminosis D 40 0.042
196
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.042
197
P HYP120 Hypoaldosteronism 40 0.042
198
PST055 Postural Hypotension 40 0.042
199
c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39 0.042
200
CHL013 Cholecystolithiasis 39 0.042
201
OPS002 Opsismodysplasia 38 0.042
202
CRB025 Carbohydrate Metabolic Disorder 38 0.042
203
ART035 Arterial Calcification of Infancy 38 0.042
204
RNL097 Renal Artery Disease 38 0.042
205
HYP550 Hypomagnesemia 1, Intestinal 38 0.042
206
ENT004 Enthesopathy 38 0.042
207
ACT040 Acute Poststreptococcal Glomerulonephritis 37 0.042
208
CHL122 Cholesteatoma of Middle Ear 35 0.042
209
RNL012 Renal Tuberculosis 35 0.042
210
c MLT010 Multiple Personality Disorder 34 0.042
211
PYR004 Pyuria 34 0.042
212
ACT003 Acute Kidney Tubular Necrosis 34 0.042
213
TNF001 Tinea Favosa 34 0.042
214
PRN007 Perinephritis 34 0.042
215
MNG003 Mungan Syndrome 34 0.042
216
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.042
217
TQP001 Taqi Polymorphism 33 0.042
218
BNR002 Bone Resorption Disease 33 0.042
219
c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 31 0.042
220
CHL109 Childhood Apraxia of Speech 31 0.042
221
c ATM068 Autoimmune Hypoparathyroidism 30 0.042
222
c SRC023 Sarcoidosis 2 30 0.042
223
URN022 Urinary Tract Infections, Recurrent 29 0.042
224
TST025 Testicular Microlithiasis 28 0.042
225
IMP003 Impaired Renal Function Disease 25 0.042
226
c MLG080 Malignant Secondary Hypertension 24 0.042
227
c PSD093 Pseudohypoaldosteronism, Type Iid 24 0.042
228
c MLG003 Malignant Renovascular Hypertension 22 0.042
229
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21 0.042
230
EPP010 Epiphysiolysis of the Hip 20 0.042
231
TRC016 Tracheal Calcification 20 0.042
232
c HYP564 Hypocalcemia, Autosomal Dominant 2 19 0.042
233
c BRT024 Bartter Syndrome Type 4 18 0.042
234
c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 18 0.042
235
FNC060 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 17 0.042
236
c HYP563 Hyperpigmentation, Familial Progressive, 1 16 0.042
237
SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 12 0.042
238
FXP001 Foxp2-Related Speech and Language Disorders 12 0.042
239
HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9 0.042
Content
Loading form....