35 hits were found for 'RAPSN'

# ++ Fam MCID Name MIFTS Score
1
RPS001 Rapsn-Related Congenital Myasthenic Syndrome 30 11.408
2
RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 2 11.408
3
FTL009 Fetal Akinesia Deformation Sequence 49 6.997
4
P CNG001 Congenital Myasthenic Syndrome 55 5.080
5
P MYS003 Myasthenia Gravis 71 4.017
6
c PTR004 Pterygium 36 4.017
7
NRN002 Neuronitis 47 3.446
8
SLW003 Slow-Channel Congenital Myasthenic Syndrome 40 3.446
9
MLT055 Multiple Pterygium Syndrome Lethal Type 39 3.446
10
MYS020 Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 4 3.446
11
NRP001 Neuropathy 54 2.813
12
c MYP004 Myopathy 52 2.813
13
LMB002 Lambert-Eaton Myasthenic Syndrome 50 2.813
14
PLY012 Polyhydramnios 49 2.813
15
CYS002 Cystic Lymphangioma 49 2.813
16
LYM022 Lymphangioma 49 2.813
17
ART047 Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 4 2.813
18
P MLT019 Multiple Myeloma 76 1.989
19
c MYL007 Myeloma 53 1.989
20
CRB009 Cerebritis 46 1.989
21
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 25 1.989
22
MCR037 Macroglossia 49 0.300
23
THR013 Thoracic Outlet Syndrome 53 0.139
24
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 21 0.139
25
NSY001 N Syndrome 57 0.113
26
P GTR002 Goiter 55 0.113
27
c HPT021 Hepatitis 65 0.080
28
P SHR002 Short Stature 64 0.080
29
PSY004 Psychotic Disorder 62 0.080
30
c THY032 Thyroiditis 61 0.080
31
P DWR001 Dwarfism 59 0.080
32
CHL068 Cholestasis 55 0.080
33
LRN003 Learning Disability 54 0.080
34
CNS004 Constipation 50 0.080
35
HYP265 Hypotonia 43 0.080