Search results for hira

330 hits were found for hira

# Family MCID Name MIFTS Score
1
DGR001 Digeorge Syndrome 62 33.017
2
P TTR001 Tetralogy of Fallot 69 14.109
3
VLC001 Velocardiofacial Syndrome 57 13.652
4
P HRT032 Heart Disease 81 13.539
5
c ATS007 Autism Spectrum Disorder 72 11.147
6
HRT011 Heart Septal Defect 49 9.409
7
P RTN008 Retinitis Pigmentosa 80 8.399
8
P ATR010 Atrial Heart Septal Defect 58 8.030
9
TCL025 T-Cell Immunodeficiency with Thymic Aplasia 42 7.525
10
P CHR084 Chromosomal Disease 34 7.525
11
P ORF002 Orofacial Cleft 43 7.525
12
c RTN041 Retinitis Pigmentosa 11 42 7.525
13
c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 30 7.525
14
c HYP248 Hyperprolinemia, Type I 42 7.525
15
CHR659 Chromosome 22q11.2 Duplication Syndrome 42 7.525
16
P PTN014 Patent Ductus Arteriosus 1 59 7.525
17
PRS004 Prostate Squamous Cell Carcinoma 32 7.525
18
c CHR565 Chromosomal Deletion Syndrome 25 7.525
19
THY003 Thymic Dysplasia 24 7.525
20
P END033 Endocarditis 58 6.399
21
c PRS114 Prostate Cancer, Hereditary, 2 33 4.484
22
INF034 Infective Endocarditis 54 4.211
23
PPL052 Papillomatosis, Confluent and Reticulated 34 3.838
24
P PNM007 Pneumonia 67 3.320
25
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 3.056
26
c CHR684 Chronic Kidney Disease 69 2.934
27
P URN019 Urinary Tract Infection 49 2.869
28
P AST005 Asthma 76 2.665
29
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.535
30
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 2.466
31
P HRP006 Herpes Simplex 65 2.395
32
TXC005 Toxic Shock Syndrome 62 2.250
33
P PNC044 Pancreatitis 61 2.250
34
P PYL005 Pyelonephritis 57 2.249
35
P OST002 Osteoporosis 76 2.199
36
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 2.199
37
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 2.199
38
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.161
39
P THR014 Thrombocytopenia 66 2.161
40
LYM027 Lymphopenia 56 2.161
41
P CHL066 Cholangitis 52 2.151
42
CYT002 Cytokine Deficiency 43 2.130
43
RNL077 Renal Fibrosis 46 2.074
44
URT010 Ureteral Obstruction 45 2.074
45
IGG001 Iga Glomerulonephritis 50 2.074
46
WLS001 Wilson Disease 70 2.044
47
MNK001 Menkes Disease 64 1.982
48
c LKM061 Leukemia, Acute Myeloid 83 1.982
49
OST017 Osteomyelitis 63 1.982
50
GST045 Gastroenteritis 58 1.982
51
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.925
52
PLY100 Polyploidy 36 1.883
53
c LKM063 Leukemia, Chronic Myeloid 71 1.883
54
P MYL006 Myeloid Leukemia 61 1.883
55
P VNT002 Ventricular Septal Defect 58 1.883
56
P HYP086 Hypothyroidism 69 1.883
57
P MYC008 Myocarditis 59 1.883
58
SPL018 Splenomegaly 49 1.883
59
HMP009 Haemophilus Influenzae 41 1.883
60
P PRS040 Prostate Cancer 95 1.852
61
c ACT042 Acute Pyelonephritis 45 1.789
62
P FBR017 Fibrosarcoma 56 1.789
63
P THL005 Thalassemia 56 1.776
64
P PLM037 Pulmonary Hypertension 72 1.776
65
47X002 47,xyy 48 1.776
66
CHL067 Cholecystitis 60 1.776
67
END086 End Stage Renal Disease 52 1.776
68
P BRS047 Breast Cancer 98 1.762
69
c THR092 Thrombophilia Due to Thrombin Defect 74 1.748
70
P LNG032 Lung Cancer 98 1.656
71
c ALP101 Alpha-Thalassemia 62 1.656
72
NRL016 Neural Tube Defects 81 1.656
73
P HPT023 Hepatocellular Carcinoma 96 1.656
74
P WRD001 Waardenburg's Syndrome 60 1.656
75
c ACT027 Acute Pancreatitis 60 1.656
76
EPD005 Epidural Abscess 31 1.656
77
P INT068 Intestinal Disease 53 1.656
78
ASC003 Ascending Cholangitis 25 1.656
79
ENC005 Encephalomalacia 44 1.521
80
LYM133 Lymphoma, Hodgkin, Classic 74 1.361
81
PFF001 Pfeiffer Syndrome 77 1.361
82
PRS129 Prostatic Hyperplasia, Benign 49 1.361
83
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64 1.361
84
BRK010 Burkitt Lymphoma 66 1.361
85
P LYM118 Lymphoma 67 1.361
86
WLF002 Wolf-Hirschhorn Syndrome 57 1.361
87
PRT036 Peritonitis 65 1.361
88
P MNC007 Monocytic Leukemia 47 1.361
89
PRS021 Prostatic Adenoma 43 1.361
90
CHL014 Cholera 62 1.361
91
PRS045 Prostatic Hypertrophy 53 1.361
92
P DRR001 Diarrhea 55 1.361
93
c ACT036 Acute Cholangitis 35 1.361
94
HLX001 Helix Syndrome 48 1.335
95
STR067 Stroke, Ischemic 80 1.236
96
P RHM011 Rheumatoid Arthritis 82 1.236
97
P INF038 Influenza 68 1.236
98
CMB007 Combined Immunodeficiency 57 1.236
99
LPD008 Lipid Metabolism Disorder 62 1.236
100
BNR002 Bone Resorption Disease 47 1.152
101
CNT061 Conotruncal Heart Malformations 66 1.152
102
P NRB001 Neuroblastoma 66 1.152
103
ESP021 Esophageal Cancer 83 1.147
104
ESP027 Esophagus Squamous Cell Carcinoma 45 1.147
105
ECT026 Ectopic Pregnancy 48 1.128
106
P PSR002 Psoriasis 63 1.128
107
P DBT009 Diabetes Mellitus 67 1.128
108
PST011 Pustulosis of Palm and Sole 52 1.128
109
LNG099 Lung Disease 62 1.128
110
MST005 Mastitis 53 1.128
111
ENT004 Enthesopathy 51 1.128
112
PLM033 Pulmonary Embolism 58 1.128
113
P ATS364 Autism 69 1.037
114
INV018 Invasive Mole 23 1.009
115
P OVR082 Overgrowth Syndrome 49 1.009
116
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.009
117
P SCH015 Schizophrenia 74 1.009
118
P ATR011 Atrial Fibrillation 66 1.009
119
THR024 Thrombosis 56 1.009
120
P GST053 Gastric Cancer 83 1.009
121
INT323 Intraocular Pressure Quantitative Trait Locus 64 1.009
122
c HYD046 Hydatidiform Mole, Recurrent, 1 59 1.009
123
MYL069 Myeloma, Multiple 77 1.009
124
P OPN001 Open-Angle Glaucoma 55 1.009
125
P KDN018 Kidney Disease 72 1.009
126
GST010 Gestational Trophoblastic Neoplasm 52 1.009
127
P PLM036 Pulmonary Fibrosis 66 1.009
128
GST033 Gestational Diabetes 61 1.009
129
SPT004 Septic Arthritis 58 1.009
130
c ACT071 Acute Kidney Failure 60 1.009
131
c HPT016 Hepatitis B 62 1.009
132
P RTN022 Retinal Vein Occlusion 54 1.009
133
c FNC052 Fanconi Anemia, Complementation Group T 41 0.980
134
P SZR006 Seizure Disorder 70 0.874
135
IMM167 Immune Deficiency Disease 78 0.874
136
NRR001 Neuroretinitis 42 0.874
137
BCT022 Bacterial Infectious Disease 56 0.874
138
RTN023 Retinitis 46 0.874
139
c PRC016 Pre-Eclampsia 65 0.874
140
P HPT021 Hepatitis 69 0.874
141
CNG034 Congestive Heart Failure 69 0.874
142
SVR004 Severe Combined Immunodeficiency 72 0.874
143
GST050 Gastrointestinal System Disease 55 0.874
144
INT066 Interstitial Lung Disease 60 0.874
145
SPN027 Spinal Stenosis 59 0.874
146
HRP004 Herpes Zoster 61 0.874
147
BCK006 Back Pain 47 0.874
148
SPN186 Spinal Cord Injury 61 0.714
149
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.714
150
P MYS003 Myasthenia Gravis 68 0.714
151
P ATS366 Autism X-Linked 2 41 0.714
152
AGN016 Aging 54 0.714
153
EKR001 Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14 10 0.714
154
P DRM053 Dermatitis, Atopic 65 0.714
155
END057 Endometrial Cancer 72 0.714
156
P MYC084 Mycobacterium Tuberculosis 1 68 0.714
157
OVR029 Ovarian Hyperstimulation Syndrome 63 0.714
158
P CLR023 Colorectal Cancer 100 0.714
159
FCT001 Factor Viii Deficiency 60 0.714
160
PRP080 Peripheral Artery Disease 54 0.714
161
URL001 Urolithiasis 46 0.714
162
P PLV020 Pelvic Organ Prolapse 58 0.714
163
c DPH024 Diaphragmatic Hernia, Congenital 64 0.714
164
KWS002 Kawasaki Disease 65 0.714
165
c HMP029 Hemophilia a 68 0.714
166
MYL005 Myelofibrosis 71 0.714
167
PLY001 Polycythemia Vera 69 0.714
168
c TYP009 Type 2 Diabetes Mellitus 92 0.714
169
c HYP836 Hypercholesterolemia, Familial, 1 73 0.714
170
c HMP004 Hemophilia B 68 0.714
171
P VNW001 Von Willebrand's Disease 65 0.714
172
P MYP004 Myopathy 67 0.714
173
CMP010 Complex Regional Pain Syndrome 60 0.714
174
P VSC011 Vasculitis 61 0.714
175
LRN003 Learning Disability 49 0.714
176
SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 19 0.714
177
NSP010 Nasopharyngeal Teratoma 14 0.714
178
P ANT006 Antiphospholipid Syndrome 55 0.714
179
VCC001 Vaccinia 47 0.714
180
SPN035 Spindle Cell Sarcoma 54 0.714
181
P PLY018 Polycythemia 56 0.714
182
P ART022 Arthritis 71 0.714
183
P KRT007 Keratoconus 50 0.714
184
CMM005 Common Cold 56 0.714
185
ALL029 Allergic Disease 59 0.714
186
CRT013 Carotid Stenosis 51 0.714
187
c ACT068 Acute Cystitis 61 0.714
188
CNS004 Constipation 56 0.714
189
PSY004 Psychotic Disorder 66 0.714
190
P ESS003 Essential Thrombocythemia 69 0.714
191
MYL031 Myeloproliferative Neoplasm 66 0.714
192
URT001 Urethritis 53 0.714
193
OPT003 Opiate Dependence 49 0.714
194
P END044 Endometriosis 62 0.714
195
SRC014 Sarcoma 65 0.714
196
CRB039 Cerebrovascular Disease 66 0.714
197
ACT058 Active Peptic Ulcer Disease 56 0.714
198
P TRT010 Teratoma 51 0.714
199
P ADL010 Adult Respiratory Distress Syndrome 71 0.714
200
P HMP007 Hemophilia 52 0.714
201
SFT003 Soft Tissue Sarcoma 57 0.714
202
48X005 48,xyyy 39 0.714
203
P FBR031 Febrile Seizures 52 0.714
204
ANG005 Anogenital Venereal Wart 56 0.647
205
P PNC035 Pancreatic Cancer 86 0.533
206
CLL010 Cellular Ependymoma 57 0.533
207
ELS006 Elsahy-Waters Syndrome 41 0.505
208
PST021 Postpartum Depression 50 0.505
209
STN013 Stenotrophomonas Maltophilia Infection 26 0.505
210
SDD008 Sudden Sensorineural Hearing Loss 41 0.505
211
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.505
212
c GLL024 Gallbladder Disease 1 52 0.505
213
ALL003 Allergic Rhinitis 67 0.505
214
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.505
215
c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18 0.505
216
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45 0.505
217
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.505
218
CRV035 Cervical Cancer 73 0.505
219
c PLM164 Pulmonary Hypertension, Primary, 1 76 0.505
220
HMF006 Hemifacial Microsomia 55 0.505
221
CLF027 Cleft Palate, Isolated 64 0.505
222
c ART138 Aortic Aneurysm, Familial Abdominal, 1 61 0.505
223
c SPN225 Spondyloarthropathy 1 70 0.505
224
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.505
225
HMN044 Human Immunodeficiency Virus Type 1 78 0.505
226
SPC010 Speech and Communication Disorders 48 0.505
227
c MJR022 Major Affective Disorder 8 38 0.505
228
DFC004 Deficiency Anemia 74 0.505
229
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.505
230
P SLM003 Salmonellosis 54 0.505
231
HLC007 Helicobacter Pylori Infection 67 0.505
232
c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 48 0.505
233
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.505
234
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.505
235
LMY014 Leiomyoma, Uterine 56 0.505
236
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.505
237
P LKM062 Leukemia, Acute Lymphoblastic 69 0.505
238
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40 0.505
239
CHP002 Chops Syndrome 47 0.505
240
NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 19 0.505
241
NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 20 0.505
242
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.505
243
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.505
244
c MJR024 Major Affective Disorder 9 41 0.505
245
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38 0.505
246
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.505
247
PRT082 Preterm Premature Rupture of the Membranes 57 0.505
248
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 0.505
249
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.505
250
HRW001 Hair Whorl 35 0.505
251
P ANR048 Aniridia 1 64 0.505
252
LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 35 0.505
253
c DVL073 Developmental and Epileptic Encephalopathy 48 24 0.505
254
c DVL074 Developmental and Epileptic Encephalopathy 49 24 0.505
255
INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 20 0.505
256
MNN043 Meningioma, Familial 79 0.505
257
BCT019 Bacteremia 1 14 0.505
258
c HPT003 Hepatitis a 63 0.505
259
LMY002 Leiomyoma 51 0.505
260
P AMY004 Amyloidosis 70 0.505
261
NRM001 Neuromyelitis Optica 61 0.505
262
CRV002 Cervix Uteri Carcinoma in Situ 47 0.505
263
STT002 Status Asthmaticus 49 0.505
264
P CYS018 Cystitis 59 0.505
265
SVR001 Severe Acute Respiratory Syndrome 67 0.505
266
P BPL003 Bipolar Disorder 56 0.505
267
P TRN020 Turner Syndrome 67 0.505
268
P GST044 Gastritis 55 0.505
269
ART016 Aortic Aneurysm 68 0.505
270
EXT010 Extramedullary Plasmacytoma 46 0.505
271
PLS011 Plasmacytoma 56 0.505
272
CNN005 Connective Tissue Disease 67 0.505
273
SCR001 Secretory Meningioma 40 0.505
274
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.505
275
ACT049 Acute Disseminated Encephalomyelitis 48 0.505
276
SPN051 Spondylitis 51 0.505
277
OST012 Osteoarthritis 77 0.505
278
P PRD008 Periodontitis 64 0.505
279
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.505
280
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.505
281
P SNS001 Sensorineural Hearing Loss 59 0.505
282
c VNT026 Ventricular Septal Defect 2 24 0.505
283
INT391 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 19 0.505
284
CHL004 Cholelithiasis 49 0.505
285
BRN028 Brain Cancer 74 0.505
286
P NTR004 Neutropenia 63 0.505
287
BLL003 Bell's Palsy 48 0.505
288
P GRV001 Graves' Disease 55 0.505
289
INF009 Inflammatory Spondylopathy 30 0.505
290
GTR002 Goiter 53 0.505
291
P LKM002 Leukemia 67 0.505
292
P GLL022 Guillain-Barre Syndrome 60 0.505
293
TRN015 Transient Cerebral Ischemia 63 0.505
294
PHH001 Phaeohyphomycosis 38 0.505
295
P VSC007 Vascular Disease 63 0.505
296
IRN001 Iron Deficiency Anemia 58 0.505
297
P CRD119 Cardiac Arrest 67 0.505
298
HMP005 Hemiplegia 54 0.505
299
PLC009 Placenta Praevia 38 0.505
300
SPS005 Spastic Hemiplegia 40 0.505
301
DSC004 Discitis 34 0.505
302
P RHN004 Rhinitis 57 0.505
303
THY030 Thyroid Gland Disease 50 0.505
304
P SBS003 Substance Abuse 54 0.505
305
P KDN017 Kidney Cancer 61 0.505
306
GLM008 Glomus Tumor 50 0.505
307
BRS051 Breast Disease 58 0.505
308
DMY004 Demyelinating Disease 50 0.505
309
P OBS001 Obstructive Jaundice 48 0.505
310
SHL001 Shoulder Impingement Syndrome 35 0.505
311
KLB003 Klebsiella Pneumonia 50 0.505
312
P GND004 Gonadal Dysgenesis 47 0.505
313
BNG018 Benign Paroxysmal Positional Nystagmus 41 0.505
314
DNT006 Dental Pulp Necrosis 43 0.505
315
SPN021 Spinal Meningioma 50 0.505
316
SPS003 Spastic Diplegia 53 0.505
317
IRN002 Iron Metabolism Disease 57 0.505
318
PST028 Post-Traumatic Stress Disorder 59 0.505
319
CRB037 Cerebral Palsy 67 0.505
320
P MTR003 Mitral Valve Stenosis 53 0.505
321
PLC007 Placental Abruption 47 0.505
322
HYP056 Hypoglycemia 65 0.505
323
ORL011 Oral Cancer 60 0.505
324
P HYP265 Hypotonia 42 0.505
325
PST053 Postherpetic Neuralgia 40 0.505
326
ANG037 Angiomatosis 30 0.505
327
ANR040 Aneurysm 61 0.505
328
CRV045 Cervical Intraepithelial Neoplasia 39 0.505
329
LYM051 Lymphomatoid Granulomatosis 45 0.505
330
MYC015 Mycobacterium Fortuitum 28 0.505
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