Search results for fbn1

195 hits were found for fbn1

# Family MCID Name MIFTS Score
1
MRF001 Marfan Syndrome 77 10.642
2
P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 66 7.564
3
ACR043 Acromicric Dysplasia 49 5.661
4
STF002 Stiff Skin Syndrome 54 5.647
5
c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 38 4.858
6
P WLL002 Weill-Marchesani Syndrome 56 4.828
7
P GLP001 Geleophysic Dysplasia 44 4.627
8
MCC012 Mccune-Albright Syndrome 70 4.217
9
MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 31 4.187
10
c GLP004 Geleophysic Dysplasia 2 39 3.960
11
P ISL078 Isolated Ectopia Lentis 56 3.926
12
c WLL037 Weill-Marchesani Syndrome 2 35 3.676
13
CNN005 Connective Tissue Disease 68 3.554
14
P MYP006 Myopia 55 3.108
15
ART016 Aortic Aneurysm 69 2.917
16
P SCL018 Scoliosis 60 2.874
17
NNT039 Neonatal Marfan Syndrome 34 2.791
18
LNS001 Lens Subluxation 38 2.773
19
ART074 Aortic Dissection 52 2.715
20
P LYS001 Loeys-Dietz Syndrome 65 2.593
21
P HRT032 Heart Disease 75 2.386
22
c ART115 Aortic Valve Disease 1 75 2.386
23
P ORT004 Orthostatic Intolerance 62 2.299
24
ART017 Aortic Disease 49 2.275
25
ANR040 Aneurysm 59 2.206
26
P CRN037 Craniosynostosis 68 2.173
27
ING001 Inguinal Hernia 60 2.155
28
P MLN008 Melanoma 69 2.136
29
P SYS005 Systemic Scleroderma 68 2.116
30
IDP070 Idiopathic Scoliosis 42 2.116
31
P PSD087 Pseudoxanthoma Elasticum 65 2.093
32
P CTS001 Cutis Laxa 65 2.067
33
P HMC002 Homocystinuria 53 2.067
34
HMC014 Homocysteinemia 53 2.067
35
BLL004 Bullous Keratopathy 49 2.067
36
MRD002 Marden-Walker Syndrome 56 1.926
37
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 1.872
38
c MTR002 Mitral Valve Insufficiency 48 1.872
39
P ART067 Aortic Aneurysm, Familial Thoracic 1 61 1.825
40
INT323 Intraocular Pressure Quantitative Trait Locus 62 1.788
41
PCT003 Pectus Excavatum 49 1.788
42
c HYP595 Hypertension, Essential 84 1.744
43
P HRS035 Hirschsprung Disease 1 65 1.744
44
HYD002 Hydronephrosis 60 1.744
45
P BRC006 Brachydactyly 53 1.744
46
PRT119 Protrusio Acetabuli 34 1.744
47
DPH006 Diaphragmatic Eventration 33 1.744
48
P PRG139 Progeroid Syndrome 28 1.744
49
P MTR012 Mitral Valve Disease 58 1.718
50
P EHL001 Ehlers-Danlos Syndrome 58 1.718
51
PNM008 Pneumothorax 56 1.718
52
EXT022 Exotropia 41 1.718
53
P TTR001 Tetralogy of Fallot 70 1.687
54
CST001 Costello Syndrome 68 1.687
55
c HMP004 Hemophilia B 68 1.687
56
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66 1.687
57
P EPD009 Epidermolysis Bullosa Dystrophica 66 1.687
58
WLL001 Williams-Beuren Syndrome 60 1.687
59
VRC005 Varicose Veins 60 1.687
60
P CTR002 Cataract 60 1.687
61
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 1.687
62
SPR004 Supravalvular Aortic Stenosis 58 1.687
63
P PLV020 Pelvic Organ Prolapse 57 1.687
64
EXF001 Exfoliation Syndrome 56 1.687
65
FND002 Fundus Dystrophy 55 1.687
66
P ART021 Arteriosclerosis 54 1.687
67
c CTS045 Cutis Laxa, Autosomal Dominant 1 53 1.687
68
TLN003 Telangiectasis 52 1.687
69
LYM004 Lymphoid Interstitial Pneumonia 51 1.687
70
P KRT007 Keratoconus 50 1.687
71
CLC006 Calcinosis 48 1.687
72
KRT008 Keratopathy 47 1.687
73
TRC005 Tracheal Stenosis 38 1.687
74
CNT099 Contractural Arachnodactyly, Congenital 53 1.371
75
HRT036 Heritable Thoracic Aortic Disease 35 1.371
76
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 47 1.334
77
ACR121 Acromelic Dysplasia 12 1.313
78
STR067 Stroke, Ischemic 81 1.290
79
P ART018 Aortic Valve Insufficiency 49 1.290
80
c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 38 1.290
81
c SCL052 Scleroderma, Familial Progressive 61 1.264
82
P ATR010 Atrial Heart Septal Defect 60 1.264
83
PCT001 Pectus Carinatum 35 1.264
84
c ART068 Aortic Aneurysm, Familial Thoracic 2 34 1.264
85
c ART101 Aortic Valve Disease 2 65 1.233
86
P DST002 Distal Arthrogryposis 63 1.233
87
CHR619 Chromosome 2q35 Duplication Syndrome 62 1.233
88
PTN001 Patent Foramen Ovale 60 1.233
89
c LYS019 Loeys-Dietz Syndrome 1 57 1.233
90
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.233
91
c GLP003 Geleophysic Dysplasia 1 43 1.233
92
TRC007 Tricuspid Valve Prolapse 36 1.233
93
ENP001 Enophthalmos 35 1.233
94
BRT054 Brittle Bone Disorder 72 1.193
95
ODN023 Odontochondrodysplasia 68 1.193
96
ART001 Arterial Tortuosity Syndrome 66 1.193
97
c GLC092 Glaucoma, Primary Open Angle 62 1.193
98
P PTN014 Patent Ductus Arteriosus 1 60 1.193
99
c LYS021 Loeys-Dietz Syndrome 3 58 1.193
100
EYD002 Eye Disease 58 1.193
101
PLY023 Polycystic Liver Disease 57 1.193
102
P STC001 Stickler Syndrome 56 1.193
103
HRT012 Heart Valve Disease 53 1.193
104
SRS007 Sorsby Fundus Dystrophy 51 1.193
105
c LYS017 Loeys-Dietz Syndrome 4 51 1.193
106
c LYS020 Loeys-Dietz Syndrome 5 50 1.193
107
DFF035 Diffuse Cutaneous Systemic Sclerosis 49 1.193
108
PLM041 Pulmonary Valve Stenosis 49 1.193
109
HMP001 Hemopericardium 48 1.193
110
MGL003 Megalocornea 48 1.193
111
P CLL015 Collagen Disease 47 1.193
112
SCL002 Scleredema Adultorum 46 1.193
113
PST048 Postural Orthostatic Tachycardia Syndrome 45 1.193
114
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45 1.193
115
c ATS393 Autosomal Recessive Cutis Laxa Type I 44 1.193
116
P TRC087 Tricuspid Valve Disease 44 1.193
117
P ORF002 Orofacial Cleft 44 1.193
118
NNT049 Nontuberculous Mycobacterial Lung Disease 44 1.193
119
ORB013 Orbital Disease 42 1.193
120
c PRM032 Primary Congenital Glaucoma 41 1.193
121
P PLM040 Pulmonary Valve Disease 39 1.193
122
TRC026 Tracheal Disease 38 1.193
123
c RTN130 Retinitis Pigmentosa 46 37 1.193
124
CHR463 Chronic Actinic Dermatitis 37 1.193
125
HYP007 Hypermobility Syndrome 36 1.193
126
ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36 1.193
127
P LNS003 Lens Disease 34 1.193
128
P BND014 Bone Development Disease 33 1.193
129
IRS003 Iris Disease 29 1.193
130
MDD015 Mid-Dermal Elastolysis 27 1.193
131
URT023 Ureteric Orifice Cancer 26 1.193
132
RTN005 Retinal Lattice Degeneration 25 1.193
133
PHC002 Phacogenic Glaucoma 25 1.193
134
BNS002 Bone Structure Disease 24 1.193
135
PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 19 1.193
136
LTN013 Late-Onset Focal Dermal Elastosis 19 1.193
137
P FML305 Familial Abdominal Aortic Aneurysm 19 1.193
138
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 0.129
139
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.119
140
CNG034 Congestive Heart Failure 69 0.109
141
c DPH024 Diaphragmatic Hernia, Congenital 63 0.097
142
OST159 Osteogenic Sarcoma 66 0.084
143
P PLM034 Pulmonary Emphysema 55 0.084
144
HRT011 Heart Septal Defect 50 0.084
145
c TRC022 Tricuspid Valve Insufficiency 45 0.084
146
P BRS047 Breast Cancer 97 0.069
147
c DLT002 Dilated Cardiomyopathy 79 0.069
148
P VSC007 Vascular Disease 63 0.069
149
RTN017 Retinal Detachment 61 0.069
150
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.069
151
c LYS018 Loeys-Dietz Syndrome 2 51 0.069
152
P SCL057 Scoliosis, Isolated 1 41 0.069
153
ECT033 Ectopia Lentis Et Pupillae 29 0.069
155
P CLR023 Colorectal Cancer 99 0.049
157
P GST053 Gastric Cancer 83 0.049
158
c ATR087 Atrial Standstill 1 75 0.049
159
ADR007 Adrenoleukodystrophy 75 0.049
160
P RSP003 Respiratory Failure 74 0.049
161
P ART022 Arthritis 69 0.049
162
P HYP086 Hypothyroidism 69 0.049
163
RCK004 Rickets 68 0.049
164
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.049
165
CHR103 Charge Syndrome 67 0.049
166
c JVN010 Juvenile Rheumatoid Arthritis 64 0.049
167
P PLY014 Polycystic Kidney Disease 62 0.049
168
PNM010 Pneumothorax, Primary Spontaneous 60 0.049
169
c JVN061 Juvenile Arthritis 60 0.049
170
CRD132 Cardiac Conduction Defect 58 0.049
171
P RTN016 Retinal Degeneration 53 0.049
172
c TRC092 Trichorhinophalangeal Syndrome, Type I 52 0.049
173
ALK024 Alkuraya-Kucinskas Syndrome 51 0.049
174
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.049
175
HYP748 Hypertelorism 50 0.049
176
47X002 47,xyy 49 0.049
177
WDM005 Wiedemann-Rautenstrauch Syndrome 49 0.049
178
LRN003 Learning Disability 49 0.049
179
HLX001 Helix Syndrome 47 0.049
180
P VTR007 Vitreoretinopathy 46 0.049
181
UMB002 Umbilical Hernia 46 0.049
182
CYN002 Cyanosis, Transient Neonatal 45 0.049
183
P HYP265 Hypotonia 43 0.049
184
DFF003 Diffuse Scleroderma 41 0.049
185
P RRT020 Rare Tumor 41 0.049
186
SKL017 Skeletal Dysplasias 40 0.049
187
P TRC031 Trichorhinophalangeal Syndrome 40 0.049
188
ANS004 Anisometropia 35 0.049
189
ALT003 Alternating Exotropia 34 0.049
190
BNN005 Bunion 33 0.049
191
BRN133 Bronchomalacia 33 0.049
192
CNG506 Congenital Amyoplasia 27 0.049
193
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.049
194
CMP097 Complex Chromosomal Rearrangement 25 0.049
195
SYN127 Syndromic Ectopia Lentis 8 0.049
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