# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
STR020 |
Strabismus |
55 |
0.160 |
|
2 |
|
|
ENP001 |
Enophthalmos |
29 |
0.154 |
|
3 |
|
P
|
PTS002 |
Ptosis |
50 |
0.125 |
|
4 |
|
P
|
MYS003 |
Myasthenia Gravis |
73 |
0.109 |
|
5 |
|
|
HDC001 |
Headache |
55 |
0.109 |
|
6 |
|
|
EXP004 |
Exophthalmos |
50 |
0.099 |
|
7 |
|
|
FDB001 |
Foodborne Botulism |
46 |
0.099 |
|
8 |
|
|
SLN006 |
Silent Sinus Syndrome |
20 |
0.099 |
|
9 |
|
P
|
TMP003 |
Temporal Arteritis |
67 |
0.089 |
|
10 |
|
P
|
MCH002 |
Machado-Joseph Disease |
63 |
0.089 |
|
11 |
|
c
|
CHR320 |
Chiari Malformation Type I |
56 |
0.089 |
|
12 |
|
|
FTL002 |
Fatal Familial Insomnia |
49 |
0.089 |
|
13 |
|
|
EST005 |
Esotropia |
43 |
0.089 |
|
14 |
|
|
EXT022 |
Exotropia |
41 |
0.089 |
|
15 |
|
c
|
EPS039 |
Episodic Pain Syndrome, Familial, 1 |
33 |
0.089 |
|
16 |
|
P
|
THY032 |
Thyroiditis |
56 |
0.077 |
|
17 |
|
|
PTT004 |
Pituitary Apoplexy |
47 |
0.077 |
|
18 |
|
|
AMB002 |
Amblyopia |
45 |
0.077 |
|
19 |
|
|
ABD009 |
Abducens Palsy |
29 |
0.077 |
|
20 |
|
|
ANS002 |
Aniseikonia |
22 |
0.077 |
|
21 |
|
P
|
MLT020 |
Multiple Sclerosis |
85 |
0.063 |
|
22 |
|
P
|
MDL005 |
Medulloblastoma |
76 |
0.063 |
|
23 |
|
|
PLY001 |
Polycythemia Vera |
75 |
0.063 |
|
24 |
|
|
ADR007 |
Adrenoleukodystrophy |
72 |
0.063 |
|
25 |
|
P
|
MNN013 |
Meningitis |
71 |
0.063 |
|
26 |
|
P
|
SPR120 |
Supranuclear Palsy, Progressive, 1 |
70 |
0.063 |
|
27 |
|
|
PTT048 |
Pituitary Adenoma, Prolactin-Secreting |
63 |
0.063 |
|
28 |
|
P
|
MYS005 |
Myositis |
63 |
0.063 |
|
29 |
|
P
|
CMR001 |
Camurati-Engelmann Disease |
62 |
0.063 |
|
30 |
|
|
THR024 |
Thrombosis |
61 |
0.063 |
|
31 |
|
|
ANR040 |
Aneurysm |
61 |
0.063 |
|
32 |
|
P
|
CTR002 |
Cataract |
60 |
0.063 |
|
33 |
|
|
TRG002 |
Trigeminal Neuralgia |
60 |
0.063 |
|
34 |
|
P
|
PLY018 |
Polycythemia |
60 |
0.063 |
|
35 |
|
|
ALX003 |
Alexander Disease |
58 |
0.063 |
|
36 |
|
|
WST005 |
West Nile Virus |
58 |
0.063 |
|
37 |
|
|
RLP001 |
Relapsing Polychondritis |
55 |
0.063 |
|
38 |
|
c
|
EPS035 |
Episodic Ataxia, Type 2 |
54 |
0.063 |
|
39 |
|
|
RTN023 |
Retinitis |
52 |
0.063 |
|
40 |
|
|
INF006 |
Infant Botulism |
52 |
0.063 |
|
41 |
|
|
SHH001 |
Sheehan Syndrome |
50 |
0.063 |
|
42 |
|
|
PPL021 |
Papilledema |
50 |
0.063 |
|
43 |
|
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
47 |
0.063 |
|
44 |
|
|
NNF007 |
Non-Functioning Pituitary Adenoma |
47 |
0.063 |
|
45 |
|
|
LCK001 |
Locked-in Syndrome |
47 |
0.063 |
|
46 |
|
|
TSH001 |
Tsh Producing Pituitary Tumor |
42 |
0.063 |
|
47 |
|
|
ENC039 |
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies |
42 |
0.063 |
|
48 |
|
|
CMP080 |
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy |
40 |
0.063 |
|
49 |
|
|
INT042 |
Internuclear Ophthalmoplegia |
40 |
0.063 |
|
50 |
|
|
ADN064 |
Adenohypophysitis |
39 |
0.063 |
|
51 |
|
|
IMM064 |
Immunodeficiency, Common Variable, 10 |
37 |
0.063 |
|
52 |
|
c
|
EPS017 |
Episodic Ataxia, Type 6 |
36 |
0.063 |
|
53 |
|
|
INT003 |
Intracranial Hypotension |
36 |
0.063 |
|
54 |
|
|
PPL050 |
Papillary Tumor of the Pineal Region |
36 |
0.063 |
|
55 |
|
|
SSC001 |
Susac Syndrome |
36 |
0.063 |
|
56 |
|
c
|
DYS119 |
Dystonia 9 |
32 |
0.063 |
|
57 |
|
c
|
MGR030 |
Migraine, Familial Hemiplegic, 2 |
32 |
0.063 |
|
58 |
|
|
WND001 |
Wound Botulism |
31 |
0.063 |
|
59 |
|
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
30 |
0.063 |
|
60 |
|
c
|
EPS037 |
Episodic Ataxia, Type 4 |
29 |
0.063 |
|
61 |
|
|
ABD002 |
Abducens Nerve Disease |
28 |
0.063 |
|
62 |
|
c
|
MYS011 |
Myasthenia Gravis Congenital |
28 |
0.063 |
|
63 |
|
|
CVR002 |
Cavernous Sinus Thrombosis |
28 |
0.063 |
|
64 |
|
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
25 |
0.063 |
|
65 |
|
P
|
INT006 |
Intestinal Botulism |
23 |
0.063 |
|
66 |
|
c
|
EPS014 |
Episodic Ataxia, Type 3 |
23 |
0.063 |
|
67 |
|
|
PNH004 |
Panhypophysitis |
21 |
0.063 |
|
68 |
|
c
|
SPR049 |
Supranuclear Palsy, Progressive, 2 |
19 |
0.063 |
|
69 |
|
c
|
PLL014 |
Pellagra-Like Syndrome |
19 |
0.063 |
|
70 |
|
c
|
ADL069 |
Adult Intestinal Botulism |
15 |
0.063 |
|
71 |
|
|
PTT038 |
Pituitary Deficiency Due to Empty Sella Turcica Syndrome |
14 |
0.063 |
|
72 |
|
|
OCL024 |
Ocular Neuromyotonia |
14 |
0.063 |
|
73 |
|
|
INH013 |
Inhalational Botulism |
14 |
0.063 |
|
74 |
|
|
PTT062 |
Pituitary Deficiency Due to Rathke's Cleft Cysts |
14 |
0.063 |
|
75 |
|
|
PTT039 |
Pituitary Dermoid and Epidermoid Cysts |
13 |
0.063 |
|
76 |
|
|
TRT021 |
Teratoma, Pineal |
13 |
0.063 |
|
77 |
|
|
MLT143 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
12 |
0.063 |
|
78 |
|
|
TXN001 |
Toxin-Mediated Infectious Botulism |
12 |
0.063 |
|
79 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
0.044 |
|
80 |
|
|
MYL069 |
Myeloma, Multiple |
86 |
0.044 |
|
81 |
|
|
STR067 |
Stroke, Ischemic |
84 |
0.044 |
|
82 |
|
P
|
LKM002 |
Leukemia |
75 |
0.044 |
|
83 |
|
|
GST019 |
Gastrointestinal Stromal Tumor |
74 |
0.044 |
|
84 |
|
P
|
NRB001 |
Neuroblastoma |
73 |
0.044 |
|
85 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
71 |
0.044 |
|
86 |
|
|
WGN006 |
Wegener Granulomatosis |
71 |
0.044 |
|
87 |
|
c
|
MNN043 |
Meningioma, Familial |
69 |
0.044 |
|
88 |
|
P
|
SYS005 |
Systemic Scleroderma |
67 |
0.044 |
|
89 |
|
|
HSH003 |
Hashimoto Thyroiditis |
67 |
0.044 |
|
90 |
|
P
|
ENC004 |
Encephalitis |
66 |
0.044 |
|
91 |
|
|
ISC004 |
Ischemia |
66 |
0.044 |
|
92 |
|
P
|
DRM010 |
Dermatomyositis |
65 |
0.044 |
|
93 |
|
P
|
THY023 |
Thymoma |
65 |
0.044 |
|
94 |
|
c
|
PRC016 |
Pre-Eclampsia |
65 |
0.044 |
|
95 |
|
c
|
LPM012 |
Lipomatosis, Multiple |
64 |
0.044 |
|
96 |
|
|
ADN018 |
Adenoma |
63 |
0.044 |
|
97 |
|
P
|
NRP001 |
Neuropathy |
63 |
0.044 |
|
98 |
|
|
LNG108 |
Langerhans Cell Histiocytosis |
63 |
0.044 |
|
99 |
|
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
63 |
0.044 |
|
100 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
63 |
0.044 |
|
101 |
|
P
|
SNS014 |
Sinusitis |
62 |
0.044 |
|
102 |
|
P
|
AGN002 |
Agnosia |
61 |
0.044 |
|
103 |
|
P
|
HMN010 |
Hemangioma |
61 |
0.044 |
|
104 |
|
|
HRP004 |
Herpes Zoster |
61 |
0.044 |
|
105 |
|
P
|
HST010 |
Histiocytosis |
60 |
0.044 |
|
106 |
|
|
PLS011 |
Plasmacytoma |
60 |
0.044 |
|
107 |
|
|
RTN017 |
Retinal Detachment |
59 |
0.044 |
|
108 |
|
|
TRN015 |
Transient Cerebral Ischemia |
58 |
0.044 |
|
109 |
|
P
|
INT030 |
Intracranial Aneurysm |
58 |
0.044 |
|
110 |
|
|
APH002 |
Aphasia |
58 |
0.044 |
|
111 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
0.044 |
|
112 |
|
|
HMT018 |
Hematopoietic Stem Cell Transplantation |
58 |
0.044 |
|
113 |
|
P
|
ECL001 |
Eclampsia |
57 |
0.044 |
|
114 |
|
P
|
PTT006 |
Pituitary Adenoma |
57 |
0.044 |
|
115 |
|
P
|
CPL006 |
Capillary Hemangioma |
56 |
0.044 |
|
116 |
|
|
MTH078 |
Methylmalonic Aciduria, Cblb Type |
56 |
0.044 |
|
117 |
|
P
|
MMB011 |
Membranous Nephropathy |
55 |
0.044 |
|
118 |
|
P
|
TRM003 |
Tremor |
54 |
0.044 |
|
119 |
|
|
TBR011 |
Tuberculous Meningitis |
54 |
0.044 |
|
120 |
|
|
HYD058 |
Hydrops, Lactic Acidosis, and Sideroblastic Anemia |
53 |
0.044 |
|
121 |
|
c
|
SVR005 |
Severe Pre-Eclampsia |
53 |
0.044 |
|
122 |
|
|
INT075 |
Intracranial Hypertension |
53 |
0.044 |
|
123 |
|
P
|
PLY017 |
Polyarteritis Nodosa |
51 |
0.044 |
|
124 |
|
P
|
KRT007 |
Keratoconus |
49 |
0.044 |
|
125 |
|
|
OLF005 |
Olfactory Neuroblastoma |
48 |
0.044 |
|
126 |
|
|
NSP002 |
Nasopharyngitis |
46 |
0.044 |
|
127 |
|
P
|
TRT019 |
Torticollis |
45 |
0.044 |
|
128 |
|
|
NRS003 |
Neurosyphilis |
44 |
0.044 |
|
129 |
|
|
PLS016 |
Plasma Cell Leukemia |
43 |
0.044 |
|
130 |
|
P
|
CRN035 |
Cranial Nerve Palsy |
42 |
0.044 |
|
131 |
|
c
|
ADL027 |
Adult Dermatomyositis |
41 |
0.044 |
|
132 |
|
|
CRB009 |
Cerebritis |
41 |
0.044 |
|
133 |
|
|
IFP001 |
Ifap Syndrome with or Without Bresheck Syndrome |
40 |
0.044 |
|
134 |
|
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
39 |
0.044 |
|
135 |
|
c
|
SZR022 |
Seizures, Benign Familial Neonatal, 1 |
39 |
0.044 |
|
136 |
|
|
PRM057 |
Paramyotonia Congenita of Von Eulenburg |
39 |
0.044 |
|
137 |
|
|
PLY112 |
Polyarteritis Nodosa, Childhood-Onset |
39 |
0.044 |
|
138 |
|
|
PRR004 |
Preretinal Fibrosis |
37 |
0.044 |
|
139 |
|
|
PRS025 |
Presbyopia |
37 |
0.044 |
|
140 |
|
|
TLS001 |
Tolosa-Hunt Syndrome |
35 |
0.044 |
|
141 |
|
|
ODN006 |
Odontoma |
35 |
0.044 |
|
142 |
|
|
LYM043 |
Lymphocytic Hypophysitis |
34 |
0.044 |
|
143 |
|
P
|
DCR003 |
Dacryoadenitis |
34 |
0.044 |
|
144 |
|
c
|
THY107 |
Thymoma, Familial |
34 |
0.044 |
|
145 |
|
|
PLM005 |
Pleomorphic Lipoma |
30 |
0.044 |
|
146 |
|
|
HYP047 |
Hypertropia |
30 |
0.044 |
|
147 |
|
|
LGP001 |
Lagophthalmos |
29 |
0.044 |
|
148 |
|
|
CRB005 |
Cerebral Arteritis |
28 |
0.044 |
|
149 |
|
|
BRW006 |
Brown Syndrome |
28 |
0.044 |
|
150 |
|
|
ANS006 |
Anosognosia |
27 |
0.044 |
|
151 |
|
|
HRP011 |
Herpes Zoster Ophthalmicus |
26 |
0.044 |
|
152 |
|
|
LNR005 |
Linear Scleroderma |
26 |
0.044 |
|
153 |
|
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
25 |
0.044 |
|
154 |
|
|
SBC002 |
Subclavian Artery Aneurysm |
23 |
0.044 |
|
155 |
|
|
MNS002 |
Mini Stroke |
23 |
0.044 |
|
156 |
|
|
INT110 |
Intracranial Cysts |
22 |
0.044 |
|
157 |
|
|
PRT015 |
Partial Third-Nerve Palsy |
21 |
0.044 |
|
158 |
|
|
SPR038 |
Supranuclear Ocular Palsy |
21 |
0.044 |
|
159 |
|
|
THN005 |
Thunderclap Headache |
17 |
0.044 |
|
160 |
|
|
ABN001 |
Abnormal Retinal Correspondence |
16 |
0.044 |
|
161 |
|
|
BCK018 |
Bickerstaff Brainstem Encephalitis |
15 |
0.044 |
|
162 |
|
|
CYC003 |
Cyclotropia |
14 |
0.044 |
|
163 |
|
|
ORB016 |
Orbital Varix |
14 |
0.044 |
|