Search results for ceroid-lipofuscinosis, neuronal 2, classic late infantile

100 hits were found for ceroid-lipofuscinosis, neuronal 2, classic late infantile

# Family MCID Name MIFTS Score
1
NRN002 Neuronitis 41 1.725
2
P NRN021 Neuronal Ceroid Lipofuscinosis 59 1.426
3
P EPL164 Epilepsy 66 0.340
4
RTN023 Retinitis 50 0.340
5
CRB009 Cerebritis 39 0.331
6
P ATX004 Ataxia 53 0.317
7
DMN002 Dementia 65 0.295
8
ALR002 Al-Raqad Syndrome 36 0.281
9
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.273
10
LPD008 Lipid Metabolism Disorder 58 0.259
11
LYS002 Lysosomal Storage Disease 52 0.255
12
HPT074 Hepatic Adenoma, Somatic 50 0.252
13
HNM002 Hinman Syndrome 25 0.246
14
c INH020 Inherited Metabolic Disorder 49 0.235
15
P ENC018 Encephalopathy 59 0.232
16
AND005 Androgen Insensitivity Syndrome, Mild 16 0.218
17
NTR005 Nutritional Deficiency Disease 36 0.208
18
P MYP004 Myopathy 67 0.204
19
P CRB088 Cerebral Atrophy 42 0.201
20
P CRD011 Cardiomyopathy 68 0.199
21
GLT021 Glutaricaciduria, Type I 46 0.197
22
P RTN016 Retinal Degeneration 54 0.190
23
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.184
24
P HRT032 Heart Disease 75 0.178
25
MYC033 Myoclonus 42 0.177
26
P PNC044 Pancreatitis 61 0.172
27
P RTT002 Rett Syndrome 77 0.167
28
MTR014 Motor Neuron Disease 58 0.165
29
P NRV007 Nervous System Disease 71 0.159
30
P ART022 Arthritis 75 0.159
31
P SZR006 Seizure Disorder 56 0.153
32
VRL011 Viral Infectious Disease 55 0.150
33
P GLM045 Glioma 60 0.150
34
P TRM003 Tremor 54 0.146
35
P KRB001 Krabbe Disease 69 0.144
36
P ADN016 Adenocarcinoma 69 0.139
37
HMT018 Hematopoietic Stem Cell Transplantation 41 0.137
38
P CTR002 Cataract 58 0.135
39
c CNT035 Central Nervous System Disease 60 0.134
40
P INT063 Intellectual Disability 49 0.134
41
P RTN008 Retinitis Pigmentosa 80 0.131
42
P CRB059 Cerebellar Degeneration 34 0.128
43
PHY002 Physical Disorder 43 0.123
44
PRP027 Peripheral Vascular Disease 68 0.123
45
P HYD006 Hydrocephalus 66 0.122
46
P PLM037 Pulmonary Hypertension 79 0.117
47
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.116
48
KWS002 Kawasaki Disease 70 0.116
49
BRT030 Birth Defects 43 0.113
50
P PLY019 Polyneuropathy 56 0.113
51
P OVR042 Ovarian Cancer 76 0.113
52
ACR041 Acromelic Frontonasal Dysostosis 45 0.112
53
PRP019 Peripheral Nervous System Disease 55 0.110
54
P VNT002 Ventricular Septal Defect 60 0.108
55
P SLP006 Sleep Apnea 61 0.108
56
P CNJ013 Conjunctivitis 64 0.105
57
ALN001 Aland Island Eye Disease 45 0.104
58
P RSP003 Respiratory Failure 71 0.104
59
RTN018 Retinal Disease 53 0.103
60
PLM031 Poliomyelitis 60 0.102
61
PRD011 Proud Syndrome 42 0.102
62
ORL011 Oral Cancer 56 0.101
63
SKN016 Skin Disease 66 0.101
64
P PRS038 Personality Disorder 62 0.100
65
ACD009 Acid-Labile Subunit, Deficiency of 45 0.099
66
P PRC019 Precocious Puberty 51 0.098
67
P ATR011 Atrial Fibrillation 66 0.098
68
P HYP055 Hypoplastic Left Heart Syndrome 61 0.097
69
P AXN001 Axonal Neuropathy 38 0.097
70
c SPN291 Spinocerebellar Ataxia 7 51 0.097
71
PLM010 Pulmonary Edema 54 0.096
72
GLB003 Globe Disease 32 0.095
73
MLT021 Multiple System Atrophy 70 0.095
74
P ATX010 Ataxia Neuropathy Spectrum 30 0.094
75
P GST049 Gastrointestinal System Cancer 60 0.094
76
P ART023 Arthropathy 64 0.092
77
ART031 Aortic Coarctation 43 0.092
78
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.091
79
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.091
80
PRD007 Periodontal Disease 60 0.090
81
INC022 Inclusion-Cell Disease 46 0.089
82
LSH001 Leishmaniasis 66 0.088
83
PSR001 Psoriatic Arthritis 64 0.087
84
END057 Endometrial Cancer 75 0.086
85
P CLL015 Collagen Disease 50 0.086
86
P MSC007 Muscle Hypertrophy 58 0.082
87
PPL002 Papillary Carcinoma 51 0.081
88
P PTN002 Patent Ductus Arteriosus 52 0.081
89
INT067 Interstitial Nephritis 46 0.078
90
P ACT135 Acute Graft Versus Host Disease 53 0.078
91
UPP004 Upper Respiratory Tract Disease 46 0.076
92
GLL018 Gallbladder Cancer 63 0.076
93
c ATM010 Autoimmune Hemolytic Anemia 60 0.076
94
SYN007 Synovitis 58 0.075
95
DCT002 Ductal Carcinoma in Situ 51 0.074
96
GYN001 Gynecomastia 48 0.074
97
c SPN225 Spondyloarthropathy 1 62 0.073
98
ANK001 Ankylosis 51 0.072
99
TBL003 Tubular Adenocarcinoma 42 0.070
100
BRS042 Breast Scirrhous Carcinoma 30 0.069
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