42 hits were found for 'RAPSN'

# Family MCID Name MIFTS Score
1
P RPS001 Rapsn-Related Congenital Myasthenic Syndrome 37 11.376
2
c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 3 11.376
3
P FTL009 Fetal Akinesia Deformation Sequence 47 6.961
4
c CNG001 Congenital Myasthenic Syndrome 56 5.048
5
P MYS003 Myasthenia Gravis 79 3.997
6
c PTR004 Pterygium 40 3.997
7
NRN002 Neuronitis 64 3.430
8
SLW003 Slow-Channel Congenital Myasthenic Syndrome 49 3.430
9
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 3.430
10
NRP001 Neuropathy 61 2.801
11
P MYP004 Myopathy 58 2.801
12
LYM022 Lymphangioma 57 2.801
13
LMB002 Lambert-Eaton Myasthenic Syndrome 54 2.801
14
CYS002 Cystic Lymphangioma 53 2.801
15
PLY012 Polyhydramnios 49 2.801
16
MYS020 Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 9 2.801
17
ART047 Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 4 2.801
18
P MLT019 Multiple Myeloma 89 1.980
19
c MYL007 Myeloma 59 1.980
20
CRB009 Cerebritis 56 1.980
21
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 36 1.980
22
MCR037 Macroglossia 41 0.286
23
GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 18 0.187
24
THR013 Thoracic Outlet Syndrome 54 0.132
25
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 32 0.132
26
P GTR002 Goiter 61 0.108
27
NNT019 Neonatal Hypothyroidism 28 0.108
28
c HPT021 Hepatitis 75 0.076
29
c CNG006 Congenital Hypothyroidism 72 0.076
30
PSY004 Psychotic Disorder 69 0.076
31
c HYP086 Hypothyroidism 68 0.076
32
P MTB001 Metabolic Syndrome X 67 0.076
33
c THY032 Thyroiditis 67 0.076
34
DSS009 Disseminated Intravascular Coagulation 66 0.076
35
CHL068 Cholestasis 63 0.076
36
P DWR001 Dwarfism 58 0.076
37
LRN003 Learning Disability 58 0.076
38
P SHR002 Short Stature 57 0.076
39
CNS004 Constipation 55 0.076
40
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 54 0.076
41
HYP265 Hypotonia 30 0.076
42
NTR005 Nutritional Deficiency Disease 28 0.076