Search results for spherocytosis

189 hits were found for spherocytosis

# Family MCID Name MIFTS Score
1
P HRD011 Hereditary Spherocytosis 53 9.333
2
c SPH014 Spherocytosis, Type 2 37 6.250
3
c SPH017 Spherocytosis, Type 5 30 6.207
4
c SPH013 Spherocytosis, Type 1 42 5.915
5
c SPH016 Spherocytosis, Type 4 31 5.884
6
c SPH015 Spherocytosis, Type 3 33 5.872
7
c SLC023 Slc4a1-Related Spherocytosis 14 4.136
8
c ANK011 Ank1-Related Spherocytosis 14 4.136
9
c SPT017 Spta1-Related Spherocytosis 13 4.136
10
c SPT018 Sptb-Related Spherocytosis 12 3.596
11
c EPB004 Epb42-Related Spherocytosis 8 2.958
12
c EPB003 Epb42-Related Hereditary Spherocytosis 6 2.151
13
CRD030 Cardiomyopathy Spherocytosis 2 2.130
14
P HML002 Hemolytic Anemia 61 0.209
15
c HRD012 Hereditary Elliptocytosis 41 0.144
16
P HMC003 Hemochromatosis 72 0.129
17
P THL005 Thalassemia 61 0.129
18
GLB001 Gilbert Syndrome 56 0.129
19
SPL006 Splenic Infarction 33 0.129
20
CHL004 Cholelithiasis 47 0.121
21
c CNG027 Congenital Hemolytic Anemia 45 0.121
22
THR024 Thrombosis 43 0.121
23
SPL018 Splenomegaly 45 0.112
24
ALR002 Al-Raqad Syndrome 29 0.112
25
HNM002 Hinman Syndrome 27 0.112
26
PNC001 Pancytopenia 49 0.102
27
RNL007 Renal Tubular Acidosis 48 0.102
28
HPT074 Hepatic Adenoma, Somatic 44 0.102
29
MDS022 Mediastinitis 40 0.102
30
P CRD011 Cardiomyopathy 67 0.091
31
PYR013 Pyruvate Kinase Deficiency 58 0.091
32
P ENC018 Encephalopathy 52 0.091
33
SCK005 Sickle Cell Disease 51 0.091
34
PRT011 Protein C Deficiency 49 0.091
35
P CNG003 Congenital Dyserythropoietic Anemia 39 0.091
36
ANG004 Angioid Streaks 26 0.091
37
c ELL006 Elliptocytosis 3 24 0.091
38
SPL009 Splenic Sequestration 23 0.091
39
SCK003 Sickle Cell Anemia 71 0.079
40
P MYM002 Moyamoya Disease 60 0.079
41
PLM033 Pulmonary Embolism 59 0.079
42
P NRP001 Neuropathy 57 0.079
43
NNT012 Neonatal Jaundice 47 0.079
44
CRB009 Cerebritis 39 0.079
45
PYR011 Pyropoikilocytosis 37 0.079
46
P CRC039 Coarctation of Aorta 36 0.079
47
P PLM037 Pulmonary Hypertension 77 0.064
48
P HRT032 Heart Disease 75 0.064
49
P APL001 Aplastic Anemia 74 0.064
50
P LKM002 Leukemia 72 0.064
51
P FLL037 Follicular Lymphoma 71 0.064
52
CNG034 Congestive Heart Failure 70 0.064
53
P FML011 Familial Adenomatous Polyposis 69 0.064
54
P LYM118 Lymphoma 69 0.064
55
P HPT021 Hepatitis 68 0.064
56
P PNM007 Pneumonia 66 0.064
57
P THR014 Thrombocytopenia 63 0.064
58
c HPT001 Hepatitis C 62 0.064
59
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62 0.064
60
LNG099 Lung Disease 61 0.064
61
P ENC004 Encephalitis 61 0.064
62
P PNC044 Pancreatitis 60 0.064
63
FCT006 Factor V Deficiency 59 0.064
64
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58 0.064
65
CHL068 Cholestasis 58 0.064
66
PRP030 Purpura 57 0.064
67
INT066 Interstitial Lung Disease 57 0.064
68
P THR005 Thrombotic Thrombocytopenic Purpura 57 0.064
69
P PLY018 Polycythemia 56 0.064
70
P INT001 Intrahepatic Cholestasis 56 0.064
71
DBN001 Dubin-Johnson Syndrome 54 0.064
72
PTN001 Patent Foramen Ovale 54 0.064
73
THR004 Thrombocytosis 52 0.064
74
SLC006 Silicosis 52 0.064
75
P PYL005 Pyelonephritis 52 0.064
76
PRT014 Protein S Deficiency 51 0.064
77
PYD001 Pyoderma Gangrenosum 50 0.064
78
STT041 Stuttering 49 0.064
79
MGL001 Megaloblastic Anemia 49 0.064
80
RTN023 Retinitis 49 0.064
81
GNG002 Ganglioneuroma 48 0.064
82
c CRG004 Crigler-Najjar Syndrome, Type Ii 48 0.064
83
HMG002 Hemoglobinuria 48 0.064
84
PYD002 Pyoderma 47 0.064
85
PRT018 Portal Vein Thrombosis 47 0.064
86
SPN041 Spinal Cord Disease 46 0.064
87
PRP007 Priapism 45 0.064
88
P KRN004 Kernicterus 45 0.064
89
VTM002 Vitamin B12 Deficiency 45 0.064
90
ISC002 Ischemic Optic Neuropathy 44 0.064
91
c VRL005 Viral Pneumonia 42 0.064
92
EVN001 Evans' Syndrome 41 0.064
93
HMT018 Hematopoietic Stem Cell Transplantation 40 0.064
94
THL010 Thalassemia Minor 38 0.064
95
P CHR562 Chronic Myelocytic Leukemia 38 0.064
96
P RTN022 Retinal Vein Occlusion 37 0.064
97
c CNT016 Central Retinal Vein Occlusion 35 0.064
98
CHL039 Choledocholithiasis 34 0.064
99
SPN185 Spinal Cord Infarction 33 0.064
100
HYP034 Hypertensive Encephalopathy 31 0.064
101
ERY002 Erythema Infectiosum 27 0.064
102
WND002 Wandering Spleen 21 0.064
103
HMG012 Hemoglobin Constant Spring 20 0.064
104
8P1001 8p11.2 Deletion Syndrome 16 0.064
105
SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8 0.064
106
GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 6 0.064
107
DCH001 Duchenne Muscular Dystrophy 79 0.046
108
BCK001 Becker Muscular Dystrophy 71 0.046
109
P PFF001 Pfeiffer Syndrome 71 0.046
110
ATT013 Attention Deficit-Hyperactivity Disorder 66 0.046
111
P PRP003 Porphyria Cutanea Tarda 64 0.046
112
P KLL001 Kallmann Syndrome 62 0.046
113
SHW002 Shwachman-Diamond Syndrome 61 0.046
114
P FML161 Familial Mediterranean Fever, Ar 61 0.046
115
P STH001 Saethre-Chotzen Syndrome 60 0.046
116
P PRP029 Porphyria 59 0.046
117
P GLL020 Gallbladder Disease 58 0.046
118
P BRS044 Breast Adenocarcinoma 57 0.046
119
PRD019 Periodic Fever, Familial 56 0.046
120
ACR008 Acrocallosal Syndrome 55 0.046
121
WLM007 Wilms Tumor Susceptibility-5 55 0.046
122
P MYC008 Myocarditis 53 0.046
123
PLY056 Polyposis, Juvenile Intestinal 53 0.046
124
THL018 Thalassemia Major 52 0.046
125
PST046 Post-Transplant Lymphoproliferative Disease 52 0.046
126
HMG005 Hemoglobinopathy 51 0.046
127
RPP001 Rapp-Hodgkin Syndrome 51 0.046
128
c THR092 Thrombophilia Due to Thrombin Defect 50 0.046
129
CRH005 Crohn's Colitis 50 0.046
130
PRC013 Pericarditis 50 0.046
131
P GLT023 Glutaric Acidemia Iic 49 0.046
132
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.046
133
VRC001 Varicocele 48 0.046
134
PRV004 Periventricular Leukomalacia 48 0.046
135
ACT098 Acute Erythroid Leukemia 48 0.046
136
HNT002 Hantavirus Pulmonary Syndrome 47 0.046
137
HPT009 Hepatopulmonary Syndrome 47 0.046
138
c FLL041 Follicular Lymphoma 1 46 0.046
139
c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45 0.046
140
PLP001 Pulpitis 44 0.046
141
DYS032 Dystrophinopathies 44 0.046
142
RLP003 Relapsing Fever 44 0.046
143
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43 0.046
144
ATR060 Atrial Standstill, Digenic 43 0.046
145
CRR007 Cirrhosis, Cryptogenic 43 0.046
146
IDP035 Idiopathic Achalasia 42 0.046
147
MLF002 Malouf Syndrome 41 0.046
148
P SDR003 Sideroblastic Anemia 40 0.046
149
THL017 Thalassemia Intermedia 40 0.046
150
c CHR546 Chronic Mountain Sickness 39 0.046
151
TTR016 Tetra-Amelia Syndrome 38 0.046
152
TRC077 Trichomegaly 38 0.046
153
EYL005 Eyelid Disease 37 0.046
154
c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 36 0.046
155
ART006 Arthus Reaction 36 0.046
156
GST020 Gastric Antral Vascular Ectasia 35 0.046
157
ADP007 Adie Pupil 35 0.046
158
SRC016 Sarcoglycanopathies 34 0.046
159
P ARC016 Auriculocondylar Syndrome 1 34 0.046
160
LYS021 Loeys-Dietz Syndrome 3 33 0.046
161
LCR001 Lacrimal Duct Obstruction 33 0.046
162
c RTN186 Retinitis Pigmentosa 75 33 0.046
163
TYM001 Tympanosclerosis 32 0.046
164
EPT021 Epithelial Recurrent Erosion Dystrophy 32 0.046
165
CRN237 Corneal Dystrophy, Avellino Type 32 0.046
166
P SCK034 Sickle Beta Thalassemia 30 0.046
167
MCL072 Macular Dystrophy, North Carolina Type 30 0.046
168
P ANM009 Anemia, Hemolytic, Rh-Null, Regulator Type 28 0.046
169
P ATX010 Ataxia Neuropathy Spectrum 27 0.046
170
CRY019 Cryohydrocytosis 27 0.046
171
LGP001 Lagophthalmos 26 0.046
172
P RNL066 Renal Tubular Acidosis, Distal, Ad 26 0.046
173
EXP002 Exposure Keratitis 26 0.046
174
c DYS167 Dyserythropoietic Anemia, Congenital, Type Iii 25 0.046
175
DHY014 Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 25 0.046
176
c ELL008 Elliptocytosis-2 24 0.046
177
OVL005 Ovalocytosis, Sa Type 24 0.046
178
HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 24 0.046
179
c CHR017 Chronic Gonococcal Salpingitis 24 0.046
180
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23 0.046
181
P ELL007 Elliptocytosis-1 23 0.046
182
MYC069 Myoclonic-Astastic Epilepsy 21 0.046
183
c JVN024 Juvenile Hereditary Hemochromatosis 21 0.046
184
PRL006 Paralytic Lagophthalmos 19 0.046
185
CYT006 Cytoplasmic Body Myopathy 18 0.046
186
AND005 Androgen Insensitivity Syndrome, Mild 16 0.046
187
PLL005 Pallister-Killian Mosaic Syndrome 14 0.046
188
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 14 0.046
189
PRV008 Parvovirus Antenatal Infection 8 0.046
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