Search results for loeys-dietz syndrome type 2a

56 hits were found for loeys-dietz syndrome type 2a

# Family MCID Name MIFTS Score
1
LYS019 Loeys-Dietz Syndrome 1 35 13.268
2
ANR040 Aneurysm 57 0.631
3
CRB009 Cerebritis 39 0.406
4
ART016 Aortic Aneurysm 67 0.381
5
P CRV039 Cervicitis 45 0.292
6
P CRD011 Cardiomyopathy 67 0.264
7
RTN023 Retinitis 49 0.264
8
P EHL001 Ehlers-Danlos Syndrome 61 0.249
9
P CRN037 Craniosynostosis 65 0.242
10
BFD003 Bifid Uvula 39 0.234
11
AND005 Androgen Insensitivity Syndrome, Mild 16 0.234
12
P HRT032 Heart Disease 75 0.233
13
P MYC007 Myocardial Infarction 77 0.226
14
P SCL018 Scoliosis 56 0.219
15
ALR002 Al-Raqad Syndrome 29 0.215
16
HPT074 Hepatic Adenoma, Somatic 44 0.212
17
HNM002 Hinman Syndrome 27 0.205
18
P SLP006 Sleep Apnea 60 0.201
19
P OST002 Osteoporosis 63 0.196
20
OBS061 Obstructive Sleep Apnea 65 0.195
21
P DST002 Distal Arthrogryposis 57 0.194
22
c EPL070 Epilepsy, Progressive Myoclonic 2b 48 0.194
23
c DLT002 Dilated Cardiomyopathy 74 0.187
24
P HYP069 Hyperparathyroidism 56 0.172
25
P AST005 Asthma 81 0.167
26
P MTR012 Mitral Valve Disease 58 0.161
27
ADR007 Adrenoleukodystrophy 72 0.161
28
c CHR089 Chronic Kidney Failure 65 0.150
29
P FNC043 Fanconi Anemia, Complementation Group E 51 0.148
30
P OST012 Osteoarthritis 79 0.147
31
P RCK004 Rickets 57 0.147
32
c BLD124 Bleeding Disorder, Platelet-Type, 11 36 0.132
33
HYP017 Hypophosphatemia 42 0.130
34
CLC006 Calcinosis 49 0.128
35
OST011 Osteomalacia 47 0.127
36
PRT029 Parathyroid Adenoma 49 0.127
37
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 20 0.126
38
MNR003 Mineral Metabolism Disease 40 0.125
39
c VTM007 Vitamin D-Dependent Rickets Type Ii 39 0.125
40
PLM017 Pulmonary Alveolar Microlithiasis 46 0.123
41
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 0.123
42
c OST147 Osteoarthritis 1 35 0.122
43
HYP025 Hyperphosphatemia 46 0.121
44
DRR010 Darier Disease 59 0.121
45
P HYP613 Hypophosphatemic Rickets 55 0.120
46
P PRT010 Parathyroid Carcinoma 61 0.119
47
PRT030 Parathyroid Gland Disease 47 0.119
48
ONC003 Oncogenic Osteomalacia 41 0.118
49
PHS001 Phosphorus Metabolism Disease 40 0.117
50
P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48 0.116
51
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53 0.115
52
HYP135 Hypophosphatemic Rickets with Hypercalciuria 46 0.115
53
P HYP057 Hypervitaminosis D 38 0.114
54
FML091 Familial Tumoral Calcinosis 42 0.114
55
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43 0.112
56
ART035 Arterial Calcification of Infancy 38 0.112
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