Search results for NFIA

154 hits were found for NFIA

# Family MCID Name MIFTS Score
1
BRN134 Brain Malformations with or Without Urinary Tract Defects 38 64.455
2
P HYD006 Hydrocephalus 63 17.601
3
ACT119 Acute Promyelocytic Leukemia 62 15.212
4
CLF027 Cleft Palate, Isolated 64 10.303
5
HGH041 High-Grade Astrocytoma 36 9.618
6
MRS004 Marshall-Smith Syndrome 49 8.797
7
GLM045 Glioma 62 2.775
8
GLL048 Glial Tumor 52 2.775
9
GLB002 Glioblastoma 67 2.181
10
P HYP265 Hypotonia 42 1.982
11
P BRS047 Breast Cancer 97 1.804
12
c VSC019 Vesicoureteral Reflux 1 56 1.730
13
P GLM040 Glioma Susceptibility 1 70 1.648
14
MLG169 Malignant Astrocytoma 57 1.648
15
SRC014 Sarcoma 64 1.545
16
SPN035 Spindle Cell Sarcoma 51 1.545
17
P HPT023 Hepatocellular Carcinoma 95 1.483
18
P CRN037 Craniosynostosis 67 1.465
19
P SZR006 Seizure Disorder 69 1.465
20
HYP748 Hypertelorism 46 1.324
21
P STR020 Strabismus 56 1.266
22
MCH006 Mechanical Strabismus 40 1.266
23
P PRS040 Prostate Cancer 95 1.247
24
ESP021 Esophageal Cancer 84 1.206
25
P CLR023 Colorectal Cancer 100 1.206
26
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.203
27
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.203
28
P LNG021 Lung Occult Small Cell Carcinoma 20 1.203
29
P TRM003 Tremor 50 1.201
30
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.177
31
HYD002 Hydronephrosis 58 1.177
32
P URN019 Urinary Tract Infection 49 1.177
33
c ACT068 Acute Cystitis 61 1.177
34
IRN008 Iron Overload in Africa 51 1.134
35
RJS001 Ruijs-Aalfs Syndrome 47 1.134
36
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.134
37
HPT079 Hepatoid Adenocarcinoma 39 1.134
38
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 1.134
39
c HPT073 Hepatitis C Virus 71 1.134
40
ADL096 Adult Hepatocellular Carcinoma 60 1.134
41
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 1.134
42
PDT042 Pediatric Hepatocellular Carcinoma 50 1.134
43
PTY007 Pityriasis Rotunda 26 1.134
44
FBR086 Fibrolamellar Carcinoma 59 1.134
45
HPT011 Hepatocellular Clear Cell Carcinoma 45 1.134
46
SYN005 Synostosis 43 1.099
47
P CMM008 Communicating Hydrocephalus 44 1.099
48
c LKM070 Leukemia, Acute Monocytic 56 1.069
49
P MNC007 Monocytic Leukemia 48 1.069
50
ACT200 Acute Monoblastic Leukemia 40 1.069
51
P FTL001 Fetal Alcohol Syndrome 55 1.036
52
P SYN057 Syndromic Intellectual Disability 37 1.036
53
OST159 Osteogenic Sarcoma 66 1.036
55
HYP266 Hypoxia 56 0.959
56
P ALZ034 Alzheimer Disease 87 0.911
57
MLD018 Mild Cognitive Impairment 48 0.911
58
CRB004 Cerebral Artery Occlusion 46 0.911
59
c MYS019 Miyoshi Muscular Dystrophy 2 19 0.911
60
ISC004 Ischemia 61 0.911
61
HGH043 High Grade Glioma 46 0.911
62
P PNC035 Pancreatic Cancer 86 0.881
63
P ATS364 Autism 72 0.874
64
P AST005 Asthma 76 0.847
65
ALL003 Allergic Rhinitis 66 0.847
66
P RHN004 Rhinitis 57 0.847
67
BRS099 Breast Ductal Carcinoma 61 0.835
68
P OVR042 Ovarian Cancer 88 0.779
69
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.695
70
ACT098 Acute Erythroid Leukemia 55 0.695
71
PLY024 Polymicrogyria 46 0.695
72
P BLD134 Bladder Cancer 79 0.678
73
MYL069 Myeloma, Multiple 77 0.533
74
CRB037 Cerebral Palsy 67 0.458
75
P LKM071 Leukemia, Chronic Lymphocytic 74 0.427
76
c ATS007 Autism Spectrum Disorder 72 0.374
77
c LKM063 Leukemia, Chronic Myeloid 71 0.349
78
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.341
79
CRP032 Corpus Callosum, Agenesis of 49 0.341
80
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.305
81
P MDL005 Medulloblastoma 75 0.264
82
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.264
83
P LNG064 Lung Cancer Susceptibility 3 70 0.264
84
LNG039 Lung Squamous Cell Carcinoma 57 0.264
85
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 0.247
86
c MYS033 Miyoshi Muscular Dystrophy 1 52 0.247
87
MYL005 Myelofibrosis 70 0.247
88
P LKM062 Leukemia, Acute Lymphoblastic 69 0.247
89
P GST053 Gastric Cancer 82 0.247
90
P DRM010 Dermatomyositis 61 0.247
91
P MLT020 Multiple Sclerosis 79 0.247
92
ORL015 Oral Squamous Cell Carcinoma 43 0.247
93
INC002 Inclusion Body Myositis 57 0.247
94
c SYS001 Systemic Lupus Erythematosus 86 0.247
95
NTR018 Neutrophilia, Hereditary 49 0.247
96
P END044 Endometriosis 62 0.247
97
P ESS003 Essential Thrombocythemia 68 0.247
98
PRM236 Primary Biliary Cholangitis 62 0.247
99
P PTT006 Pituitary Adenoma 55 0.247
100
P NML001 Nemaline Myopathy 49 0.247
101
c LKM061 Leukemia, Acute Myeloid 83 0.247
102
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.247
103
SZR001 Sezary's Disease 60 0.247
104
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40 0.216
105
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 38 0.216
106
BNR002 Bone Resorption Disease 47 0.216
107
P MLN069 Melanoma, Uveal 59 0.216
108
OBS002 Obsessive-Compulsive Disorder 68 0.216
109
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.216
110
P RHM011 Rheumatoid Arthritis 81 0.216
111
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.216
112
P DRM053 Dermatitis, Atopic 65 0.216
113
c MJR024 Major Affective Disorder 9 40 0.216
114
c MJR022 Major Affective Disorder 8 37 0.216
115
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.216
116
P PLC011 Pilocytic Astrocytoma 55 0.216
117
P MLN008 Melanoma 75 0.216
118
SQM006 Squamous Cell Carcinoma 59 0.216
119
P HYP086 Hypothyroidism 69 0.216
120
ART016 Aortic Aneurysm 69 0.216
121
P BPL003 Bipolar Disorder 56 0.216
122
ANR040 Aneurysm 60 0.216
123
P MGL013 Megalencephaly 46 0.216
124
P KDN018 Kidney Disease 72 0.216
125
P ART022 Arthritis 70 0.216
126
P OVR082 Overgrowth Syndrome 42 0.216
127
P SCH015 Schizophrenia 74 0.153
128
FRY006 Fryns Microphthalmia Syndrome 52 0.153
129
ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48 0.153
130
ANX010 Anxiety 70 0.153
131
c PTT029 Pitt-Hopkins-Like Syndrome 1 50 0.153
132
MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 20 0.153
133
FTL006 Fetal Alcohol Spectrum Disorder 43 0.153
134
P MJR001 Major Depressive Disorder 68 0.153
135
P HRS035 Hirschsprung Disease 1 66 0.153
136
c MNT319 Mental Retardation, Autosomal Dominant 20 42 0.153
137
P CRN026 Corneal Edema 42 0.153
138
HRW001 Hair Whorl 35 0.153
139
P BRC006 Brachydactyly 52 0.153
140
SVR001 Severe Acute Respiratory Syndrome 68 0.153
141
P MCR010 Microcephaly 59 0.153
142
DYS006 Dysembryoplastic Neuroepithelial Tumor 32 0.153
143
HYP014 Hyperuricemia 51 0.153
144
MNT002 Mental Depression 56 0.153
145
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.153
146
DPR016 Depression 65 0.153
147
c CHR684 Chronic Kidney Disease 74 0.153
148
BRN071 Brain Injury 50 0.153
149
P DYS005 Dyslexia 40 0.153
150
P RTN016 Retinal Degeneration 52 0.153
151
ORP003 Oropharynx Cancer 54 0.153
152
P HYP076 Hyperthyroidism 53 0.153
153
c PTT042 Pitt-Hopkins-Like Syndrome 38 0.153
154
LRN003 Learning Disability 49 0.153
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