Search results for itpa

159 hits were found for itpa

# Family MCID Name MIFTS Score
1
c DVL062 Developmental and Epileptic Encephalopathy 35 29 63.908
2
INS015 Inosine Triphosphatase Deficiency 22 51.692
3
P INF037 Inflammatory Bowel Disease 53 16.143
4
P HML002 Hemolytic Anemia 62 15.656
5
P THR014 Thrombocytopenia 66 12.862
6
PNC001 Pancytopenia 52 10.804
7
P THP004 Thiopurines, Poor Metabolism of, 1 41 8.051
8
ASY002 Asymptomatic Neurosyphilis 41 8.051
9
NDL013 Nodular Regenerative Hyperplasia 46 7.965
10
P SPC019 Specific Language Impairment 31 7.892
11
c NNN010 Noonan Syndrome 3 51 7.640
12
c NNN011 Noonan Syndrome 4 47 7.640
13
c NNN020 Noonan Syndrome 7 39 7.640
14
P WST004 West Nile Encephalitis 44 7.640
15
RSP023 Rasopathy 54 7.640
16
ADN001 Adenosine Deaminase Deficiency 59 7.640
17
TRT002 Tertiary Neurosyphilis 21 7.640
18
c HPT001 Hepatitis C 61 6.643
19
DFC004 Deficiency Anemia 74 5.184
20
P LKM062 Leukemia, Acute Lymphoblastic 69 4.463
21
c HPT073 Hepatitis C Virus 70 3.281
22
P NTR004 Neutropenia 62 3.184
23
P LKM002 Leukemia 65 2.810
24
P HPT021 Hepatitis 68 2.500
25
CHL152 Childhood Acute Lymphocytic Leukemia 50 2.348
26
P ENC018 Encephalopathy 62 2.320
27
P MCR010 Microcephaly 59 2.139
28
P EXN002 Exanthem 58 1.920
29
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.780
30
P SZR006 Seizure Disorder 69 1.780
31
LVR012 Liver Cirrhosis 62 1.754
32
DSS008 Disease of Mental Health 74 1.635
33
P MYC084 Mycobacterium Tuberculosis 1 68 1.458
34
P HYP265 Hypotonia 42 1.435
35
P EPL164 Epilepsy 70 1.340
36
ADG002 Audiogenic Seizures 25 1.210
37
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.166
38
c ATM011 Autoimmune Hepatitis 62 1.166
39
CRH001 Crohn's Disease 80 1.142
40
c LKM061 Leukemia, Acute Myeloid 83 1.091
41
PLM001 Pulmonary Tuberculosis 69 1.091
42
c DLT002 Dilated Cardiomyopathy 79 1.062
43
P GLM007 Glomerulonephritis 59 0.997
44
P PNC044 Pancreatitis 61 0.997
45
CRS001 Crescentic Glomerulonephritis 42 0.997
46
P DVL113 Developmental and Epileptic Encephalopathy 46 0.997
47
MCR088 Microscopic Polyangiitis 51 0.997
48
P SLM003 Salmonellosis 54 0.958
49
GST045 Gastroenteritis 58 0.958
50
c INH020 Inherited Metabolic Disorder 47 0.958
51
P CRB088 Cerebral Atrophy 32 0.958
52
P INF032 Infertility 60 0.912
53
DPH001 Diphtheria 59 0.851
54
LRN003 Learning Disability 49 0.851
55
P PNC035 Pancreatic Cancer 87 0.719
56
LNG108 Langerhans Cell Histiocytosis 57 0.706
57
P ERL057 Early Infantile Epileptic Encephalopathy 61 0.706
58
HST010 Histiocytosis 49 0.706
59
P ART022 Arthritis 70 0.650
60
c SYS001 Systemic Lupus Erythematosus 85 0.633
61
P LPS004 Lupus Erythematosus 61 0.633
62
ULC004 Ulcerative Colitis 74 0.599
63
P BRS047 Breast Cancer 97 0.573
64
P GST053 Gastric Cancer 82 0.573
65
P RHM011 Rheumatoid Arthritis 81 0.563
66
BDD001 Budd-Chiari Syndrome 62 0.436
67
P SYP003 Syphilis 59 0.436
68
PRT018 Portal Vein Thrombosis 50 0.436
69
c JVN010 Juvenile Rheumatoid Arthritis 52 0.436
70
GRN017 Granulocytopenia 42 0.436
71
CRH005 Crohn's Colitis 53 0.411
72
NRS003 Neurosyphilis 45 0.411
73
c JVN061 Juvenile Arthritis 56 0.385
74
THR004 Thrombocytosis 52 0.356
75
c TRN053 Transient Pseudohypoaldosteronism 24 0.356
76
FCL014 Focal Epilepsy 53 0.325
77
BLR008 Bilirubin Metabolic Disorder 57 0.325
78
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.325
79
PRT013 Portal Hypertension 59 0.325
80
WLL001 Williams-Beuren Syndrome 60 0.291
81
P HYP069 Hyperparathyroidism 62 0.291
82
CRB037 Cerebral Palsy 66 0.291
83
ADN018 Adenoma 58 0.291
84
c PRM005 Primary Hyperparathyroidism 59 0.291
85
PRV004 Periventricular Leukomalacia 52 0.291
86
P PMP001 Pemphigus 54 0.291
87
PRT029 Parathyroid Adenoma 51 0.291
88
HRP004 Herpes Zoster 60 0.291
89
P ALP008 Alopecia 53 0.291
90
c ATS007 Autism Spectrum Disorder 71 0.252
91
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.252
92
P ATS364 Autism 72 0.252
93
MRT007 Martsolf Syndrome 48 0.252
94
VRC005 Varicose Veins 59 0.252
95
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 0.252
96
SPC010 Speech and Communication Disorders 47 0.252
97
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 0.252
98
HLX001 Helix Syndrome 47 0.252
99
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.252
100
c ATR087 Atrial Standstill 1 74 0.252
101
THY111 Thyroid Carcinoma, Familial Medullary 67 0.252
102
DYS182 Dysphasia, Familial Developmental 34 0.252
103
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.252
104
SPS003 Spastic Diplegia 52 0.252
105
THY125 Thyroid Gland Medullary Carcinoma 48 0.252
106
P CTR002 Cataract 59 0.252
107
SKN016 Skin Disease 63 0.252
108
STP002 Staphyloenterotoxemia 27 0.252
109
THY029 Thyroid Carcinoma 55 0.252
110
MYL020 Myelomeningocele 51 0.206
111
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.206
112
c INF089 Inflammatory Bowel Disease 6 28 0.206
113
P OST002 Osteoporosis 76 0.206
114
OTT002 Otitis Media 70 0.206
115
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.206
116
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.206
117
CHL123 Chlamydia 58 0.206
118
HYP063 Hypersplenism 51 0.206
119
c VRL010 Viral Hepatitis 52 0.206
120
CHL061 Childhood Leukemia 47 0.206
121
FTT001 Fatty Liver Disease 61 0.206
122
INF034 Infective Endocarditis 53 0.145
123
P PRV006 Pervasive Developmental Disorder 52 0.145
124
P SCL018 Scoliosis 57 0.145
125
LYM143 Lymphoma, Non-Hodgkin, Familial 74 0.145
126
APH002 Aphasia 55 0.145
127
DWN001 Down Syndrome 70 0.145
128
PRX015 Paroxysmal Extreme Pain Disorder 56 0.145
129
LYM133 Lymphoma, Hodgkin, Classic 69 0.145
130
OCL069 Ocular Motor Apraxia 57 0.145
131
P MLT020 Multiple Sclerosis 79 0.145
132
c BRN108 Branchiootic Syndrome 1 63 0.145
133
P DRM053 Dermatitis, Atopic 65 0.145
134
P HMP002 Hemophagocytic Lymphohistiocytosis 60 0.145
135
c DVL070 Developmental and Epileptic Encephalopathy 45 25 0.145
136
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.145
137
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.145
138
MCS002 Mucositis 55 0.145
139
PNC126 Pancreatic Squamous Cell Carcinoma 14 0.145
140
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.145
141
SQM006 Squamous Cell Carcinoma 59 0.145
142
P MVM001 Movement Disease 61 0.145
143
CLR030 Clear Cell Renal Cell Carcinoma 53 0.145
144
LYM027 Lymphopenia 56 0.145
145
P CND004 Candidiasis 57 0.145
146
P END033 Endocarditis 58 0.145
147
c HPT016 Hepatitis B 62 0.145
148
ART014 Articulation Disorder 34 0.145
149
PNC129 Pancreatic Adenocarcinoma 64 0.145
150
PNC013 Pancreatic Ductal Carcinoma 48 0.145
151
P SBS003 Substance Abuse 54 0.145
152
CVD001 Covid-19 59 0.145
153
P SLP005 Sleep Disorder 61 0.145
154
P ENC004 Encephalitis 61 0.145
155
STM007 Stomatitis 52 0.145
156
47X002 47,xyy 47 0.145
158
SQM014 Squamous Cell Carcinoma of Pancreas 13 0.145
159
SPS057 Spasticity 43 0.145
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