Search results for spherocytosis

173 hits were found for spherocytosis

# Family MCID Name MIFTS Score
1
P HRD011 Hereditary Spherocytosis 54 9.381
2
c SPH018 Spherocytosis, Hereditary, Type 5 29 6.209
3
c SPT018 Sptb-Related Spherocytosis 21 6.209
4
c SPH013 Spherocytosis, Type 1 41 5.959
5
c SPH015 Spherocytosis, Type 3 34 5.875
6
c SPH016 Spherocytosis, Type 4 28 5.875
7
c HRD192 Hereditary Spherocytosis Type 2 22 4.137
8
c SLC023 Slc4a1-Related Spherocytosis 15 4.137
9
c ANK011 Ank1-Related Spherocytosis 15 4.137
10
c SPT017 Spta1-Related Spherocytosis 13 4.137
11
c EPB004 Epb42-Related Spherocytosis 8 2.960
12
c EPB003 Epb42-Related Hereditary Spherocytosis 7 2.154
13
CRD030 Cardiomyopathy Spherocytosis 2 2.132
14
P HML002 Hemolytic Anemia 62 0.215
15
c HRD012 Hereditary Elliptocytosis 42 0.155
16
P HMC003 Hemochromatosis 72 0.133
17
P THL005 Thalassemia 64 0.133
18
GLB001 Gilbert Syndrome 60 0.133
19
c CNG027 Congenital Hemolytic Anemia 48 0.133
20
SPL006 Splenic Infarction 35 0.133
21
THR024 Thrombosis 57 0.124
22
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.115
23
CHL004 Cholelithiasis 48 0.115
24
SPL018 Splenomegaly 44 0.115
25
ALR002 Al-Raqad Syndrome 36 0.115
26
P PNC001 Pancytopenia 52 0.105
27
RNL007 Renal Tubular Acidosis 50 0.105
28
MDS022 Mediastinitis 41 0.105
29
HNM002 Hinman Syndrome 25 0.105
30
P CRD011 Cardiomyopathy 68 0.094
31
P ENC018 Encephalopathy 59 0.094
32
PYR013 Pyruvate Kinase Deficiency 58 0.094
33
PRT011 Protein C Deficiency 52 0.094
34
SCK005 Sickle Cell Disease 51 0.094
35
HPT074 Hepatic Adenoma, Somatic 50 0.094
36
PYR011 Pyropoikilocytosis 35 0.094
37
ANG004 Angioid Streaks 30 0.094
38
SPL009 Splenic Sequestration 28 0.094
39
SCK003 Sickle Cell Anemia 71 0.081
40
DFC004 Deficiency Anemia 64 0.081
41
P MYM002 Moyamoya Disease 61 0.081
42
PLM033 Pulmonary Embolism 60 0.081
43
P NRP001 Neuropathy 59 0.081
44
NNT012 Neonatal Jaundice 50 0.081
45
TNP003 Tn Polyagglutination Syndrome, Somatic 41 0.081
46
P CNG003 Congenital Dyserythropoietic Anemia 40 0.081
47
CRB009 Cerebritis 39 0.081
48
P CRC039 Coarctation of Aorta 34 0.081
49
P PLM037 Pulmonary Hypertension 79 0.066
50
P HRT032 Heart Disease 75 0.066
51
P APL001 Aplastic Anemia 75 0.066
52
CNG034 Congestive Heart Failure 72 0.066
53
P LKM002 Leukemia 71 0.066
54
P FLL037 Follicular Lymphoma 70 0.066
55
P LYM118 Lymphoma 69 0.066
56
P HPT021 Hepatitis 69 0.066
57
c HPT001 Hepatitis C 68 0.066
58
P FML011 Familial Adenomatous Polyposis 68 0.066
59
P PNM007 Pneumonia 68 0.066
60
P THR014 Thrombocytopenia 64 0.066
61
LNG099 Lung Disease 64 0.066
62
P ENC004 Encephalitis 63 0.066
63
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62 0.066
64
P PNC044 Pancreatitis 61 0.066
65
INT066 Interstitial Lung Disease 59 0.066
66
P INT001 Intrahepatic Cholestasis 59 0.066
67
CHL068 Cholestasis 59 0.066
68
P PLY018 Polycythemia 58 0.066
69
PRP030 Purpura 58 0.066
70
FCT006 Factor V Deficiency 57 0.066
71
PTN001 Patent Foramen Ovale 55 0.066
72
THR004 Thrombocytosis 55 0.066
73
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.066
74
DBN001 Dubin-Johnson Syndrome 54 0.066
75
SLC006 Silicosis 53 0.066
76
PRT014 Protein S Deficiency 53 0.066
77
P PYL005 Pyelonephritis 52 0.066
78
PYD001 Pyoderma Gangrenosum 51 0.066
79
SPN041 Spinal Cord Disease 51 0.066
80
RTN023 Retinitis 50 0.066
81
MGL001 Megaloblastic Anemia 50 0.066
82
PRT018 Portal Vein Thrombosis 49 0.066
83
HMG002 Hemoglobinuria 48 0.066
84
PYD002 Pyoderma 48 0.066
85
c CRG004 Crigler-Najjar Syndrome, Type Ii 48 0.066
86
STT041 Stuttering 48 0.066
87
GNG002 Ganglioneuroma 47 0.066
88
PRP007 Priapism 46 0.066
89
P KRN004 Kernicterus 46 0.066
90
VTM002 Vitamin B12 Deficiency 44 0.066
91
EVN001 Evans' Syndrome 43 0.066
92
c VRL005 Viral Pneumonia 42 0.066
93
HMT018 Hematopoietic Stem Cell Transplantation 41 0.066
94
P CHR562 Chronic Myelocytic Leukemia 41 0.066
95
HYP034 Hypertensive Encephalopathy 38 0.066
96
P RTN022 Retinal Vein Occlusion 38 0.066
97
ISC002 Ischemic Optic Neuropathy 37 0.066
98
c CNT016 Central Retinal Vein Occlusion 36 0.066
99
CHL039 Choledocholithiasis 34 0.066
100
SPN185 Spinal Cord Infarction 34 0.066
101
ERY002 Erythema Infectiosum 28 0.066
102
c ELL006 Elliptocytosis 3 27 0.066
103
WND002 Wandering Spleen 21 0.066
104
HMG012 Hemoglobin Constant Spring 18 0.066
105
8P1001 8p11.2 Deletion Syndrome 14 0.066
106
SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 7 0.066
107
GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 6 0.066
108
P PFF001 Pfeiffer Syndrome 73 0.047
109
P MYL005 Myelofibrosis 67 0.047
110
P PRP003 Porphyria Cutanea Tarda 64 0.047
111
WLM007 Wilms Tumor Susceptibility-5 63 0.047
112
PLY125 Polycythemia Vera, Somatic 63 0.047
113
P KLL001 Kallmann Syndrome 61 0.047
114
SHW002 Shwachman-Diamond Syndrome 61 0.047
115
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 60 0.047
116
P GLL020 Gallbladder Disease 59 0.047
117
P PRP029 Porphyria 59 0.047
118
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.047
119
c THR092 Thrombophilia Due to Thrombin Defect 54 0.047
120
PLY056 Polyposis, Juvenile Intestinal 54 0.047
121
ACR008 Acrocallosal Syndrome 52 0.047
122
HMG005 Hemoglobinopathy 52 0.047
123
P GLT023 Glutaric Acidemia Iic 52 0.047
124
HNT002 Hantavirus Pulmonary Syndrome 51 0.047
125
ATR060 Atrial Standstill, Digenic 51 0.047
126
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.047
127
RPP001 Rapp-Hodgkin Syndrome 48 0.047
128
THL018 Thalassemia Major 48 0.047
129
P TRC086 Trichohepatoenteric Syndrome 1 48 0.047
130
HMS001 Hemosiderosis 46 0.047
131
INC022 Inclusion-Cell Disease 46 0.047
132
ACD009 Acid-Labile Subunit, Deficiency of 45 0.047
133
c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45 0.047
134
c FLL041 Follicular Lymphoma 1 45 0.047
135
CRR007 Cirrhosis, Cryptogenic 43 0.047
136
P SLL003 Salla Disease 43 0.047
137
MLF002 Malouf Syndrome 41 0.047
138
THL017 Thalassemia Intermedia 40 0.047
139
P SDR003 Sideroblastic Anemia 40 0.047
140
P ARC016 Auriculocondylar Syndrome 1 40 0.047
141
THL010 Thalassemia Minor 39 0.047
142
EYL005 Eyelid Disease 39 0.047
143
TRC077 Trichomegaly 38 0.047
144
TTR016 Tetra-Amelia Syndrome 36 0.047
145
c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 35 0.047
146
ADP007 Adie Pupil 34 0.047
147
LCR001 Lacrimal Duct Obstruction 34 0.047
148
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 33 0.047
149
GST020 Gastric Antral Vascular Ectasia 33 0.047
150
EPT021 Epithelial Recurrent Erosion Dystrophy 33 0.047
151
P ATX010 Ataxia Neuropathy Spectrum 30 0.047
152
P SCK034 Sickle Beta Thalassemia 30 0.047
153
LYS021 Loeys-Dietz Syndrome 3 30 0.047
154
c ELL008 Elliptocytosis-2 29 0.047
155
c JVN024 Juvenile Hereditary Hemochromatosis 29 0.047
156
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 28 0.047
157
P ANM009 Anemia, Hemolytic, Rh-Null, Regulator Type 28 0.047
158
LGP001 Lagophthalmos 27 0.047
159
EXP002 Exposure Keratitis 26 0.047
160
OVL004 Ovalocytosis, Hereditary Hemolytic 25 0.047
161
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23 0.047
162
HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 22 0.047
163
P ELL007 Elliptocytosis-1 22 0.047
164
MYC069 Myoclonic-Astastic Epilepsy 18 0.047
165
ART109 Arterial Thoracic Outlet Syndrome 18 0.047
166
DXY001 Deoxyguanosine Kinase Deficiency 18 0.047
167
AND005 Androgen Insensitivity Syndrome, Mild 16 0.047
168
PRL006 Paralytic Lagophthalmos 16 0.047
169
MTC034 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 15 0.047
170
c BNG076 Benign Exophthalmos Syndrome 15 0.047
171
PLL005 Pallister-Killian Mosaic Syndrome 15 0.047
172
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 13 0.047
173
PRV008 Parvovirus Antenatal Infection 8 0.047
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