Search results for spherocytosis

195 hits were found for spherocytosis

# Family MCID Name MIFTS Score
1
P HRD011 Hereditary Spherocytosis 55 10.543
2
c SPH014 Spherocytosis, Type 2 41 7.834
3
c SPH016 Spherocytosis, Type 4 39 7.502
4
c SPH013 Spherocytosis, Type 1 53 7.492
5
c SPH015 Spherocytosis, Type 3 41 7.483
6
c SPH017 Spherocytosis, Type 5 30 7.463
7
EPB003 Epb42-Related Hereditary Spherocytosis 2 2.332
8
CRD030 Cardiomyopathy Spherocytosis 2 2.311
9
P HML002 Hemolytic Anemia 62 0.194
10
P THL005 Thalassemia 65 0.154
11
P HRD012 Hereditary Elliptocytosis 41 0.140
12
GLB001 Gilbert Syndrome 55 0.133
13
BLR008 Bilirubin Metabolic Disorder 45 0.133
14
SPL006 Splenic Infarction 34 0.126
15
c BTT014 Beta-Thalassemia 70 0.118
16
THR024 Thrombosis 61 0.118
17
CHL004 Cholelithiasis 51 0.118
18
c CNG027 Congenital Hemolytic Anemia 46 0.118
19
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.118
20
c BLD140 Blood Group, I System 37 0.118
21
AGN016 Aging 65 0.109
22
SPL018 Splenomegaly 45 0.109
23
MDS022 Mediastinitis 44 0.109
24
ALR002 Al-Raqad Syndrome 30 0.109
25
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.109
26
P LYM118 Lymphoma 71 0.099
27
P ANR048 Aniridia 1 68 0.099
28
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.099
29
HPT082 Hepatic Adenomas, Familial 52 0.099
30
P RNL007 Renal Tubular Acidosis 51 0.099
31
PNC001 Pancytopenia 50 0.099
32
HMS001 Hemosiderosis 50 0.099
33
c GLL024 Gallbladder Disease 1 39 0.099
34
ANR038 Anorexia Nervosa 1 21 0.099
35
BLD137 Blood Group--Ahonen 17 0.099
36
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.089
37
P ENC018 Encephalopathy 58 0.089
38
PYR041 Pyruvate Kinase Deficiency of Red Cells 54 0.089
39
SCK005 Sickle Cell Disease 54 0.089
40
ACT098 Acute Erythroid Leukemia 52 0.089
41
PRT011 Protein C Deficiency 48 0.089
42
P RNL045 Renal Tubular Acidosis, Distal 42 0.089
43
P CNG003 Congenital Dyserythropoietic Anemia 42 0.089
44
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.089
45
ANG004 Angioid Streaks 35 0.089
46
SPL009 Splenic Sequestration 25 0.089
47
P LKM002 Leukemia 75 0.077
48
SCK003 Sickle Cell Anemia 73 0.077
49
P NRP001 Neuropathy 63 0.077
50
PLM033 Pulmonary Embolism 62 0.077
51
c ALP101 Alpha-Thalassemia 60 0.077
52
HMG005 Hemoglobinopathy 53 0.077
53
NNT012 Neonatal Jaundice 51 0.077
54
P MYM013 Moyamoya Disease 1 50 0.077
55
CRB009 Cerebritis 41 0.077
56
P CRC039 Coarctation of Aorta 37 0.077
57
STR067 Stroke, Ischemic 84 0.063
58
P HRT032 Heart Disease 80 0.063
59
P PLM037 Pulmonary Hypertension 79 0.063
60
P FLL037 Follicular Lymphoma 76 0.063
61
PLY001 Polycythemia Vera 75 0.063
62
P HPT021 Hepatitis 75 0.063
63
CNG034 Congestive Heart Failure 74 0.063
64
APL001 Aplastic Anemia 74 0.063
65
c HPT001 Hepatitis C 73 0.063
66
P FML011 Familial Adenomatous Polyposis 71 0.063
67
P PNM007 Pneumonia 70 0.063
68
LNG099 Lung Disease 67 0.063
69
P ENC004 Encephalitis 66 0.063
70
P HYP061 Hypertrophic Cardiomyopathy 65 0.063
71
P THR014 Thrombocytopenia 65 0.063
72
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 0.063
73
P PNC044 Pancreatitis 64 0.063
74
P THR005 Thrombotic Thrombocytopenic Purpura 63 0.063
75
INT066 Interstitial Lung Disease 63 0.063
76
P INT001 Intrahepatic Cholestasis 62 0.063
77
PRP030 Purpura 61 0.063
78
CHL068 Cholestasis 60 0.063
79
P PLY018 Polycythemia 60 0.063
80
PTN001 Patent Foramen Ovale 58 0.063
81
HMT018 Hematopoietic Stem Cell Transplantation 58 0.063
82
SLC006 Silicosis 57 0.063
83
HNT002 Hantavirus Pulmonary Syndrome 57 0.063
84
P PYL005 Pyelonephritis 56 0.063
85
DBN001 Dubin-Johnson Syndrome 56 0.063
86
THR004 Thrombocytosis 55 0.063
87
PYD001 Pyoderma Gangrenosum 55 0.063
88
SPN041 Spinal Cord Disease 54 0.063
89
P HMG032 Hemoglobin H Disease 53 0.063
90
P RTN022 Retinal Vein Occlusion 53 0.063
91
RTN023 Retinitis 52 0.063
92
STT041 Stuttering 52 0.063
93
HMG002 Hemoglobinuria 52 0.063
94
P MGL001 Megaloblastic Anemia 52 0.063
95
FCT006 Factor V Deficiency 52 0.063
96
PYD002 Pyoderma 51 0.063
97
PRT018 Portal Vein Thrombosis 50 0.063
98
GNG002 Ganglioneuroma 50 0.063
99
c CNT016 Central Retinal Vein Occlusion 50 0.063
100
c CRG004 Crigler-Najjar Syndrome, Type Ii 49 0.063
101
PRP007 Priapism 49 0.063
102
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48 0.063
103
P KRN004 Kernicterus 48 0.063
104
ISC002 Ischemic Optic Neuropathy 48 0.063
105
GLC009 Glucosephosphate Dehydrogenase Deficiency 48 0.063
106
PRT014 Protein S Deficiency 47 0.063
107
VTM002 Vitamin B12 Deficiency 46 0.063
108
EVN001 Evans' Syndrome 45 0.063
109
IRN002 Iron Metabolism Disease 45 0.063
110
c WLM011 Wilms Tumor 6 44 0.063
111
c VRL005 Viral Pneumonia 42 0.063
112
ADP007 Adie Pupil 41 0.063
113
TRC077 Trichomegaly 40 0.063
114
c HMG001 Hemoglobin C Disease 39 0.063
115
CHL039 Choledocholithiasis 38 0.063
116
PYR040 Pyropoikilocytosis, Hereditary 35 0.063
117
HYP034 Hypertensive Encephalopathy 34 0.063
118
c HMG003 Hemoglobin E Disease 34 0.063
119
SPN185 Spinal Cord Infarction 33 0.063
120
c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 32 0.063
121
ERY002 Erythema Infectiosum 31 0.063
122
c ELL005 Elliptocytosis 2 29 0.063
123
RHN013 Rh-Null, Regulator Type 29 0.063
124
HNM002 Hinman Syndrome 25 0.063
125
HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24 0.063
126
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 24 0.063
127
WND002 Wandering Spleen 24 0.063
128
8P1001 8p11.2 Deletion Syndrome 18 0.063
129
DNS008 Dna, Satellite, Iii 18 0.063
130
BTD002 Beta-Adrenergic Stimulation, Response to 17 0.063
131
HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17 0.063
132
PRV008 Parvovirus Antenatal Infection 16 0.063
133
PGM010 Pigmented Purpuric Eruption 14 0.063
134
SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9 0.063
135
GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 8 0.063
136
c SYS001 Systemic Lupus Erythematosus 86 0.044
137
MLR004 Malaria 86 0.044
138
P MYL005 Myelofibrosis 75 0.044
139
PFF001 Pfeiffer Syndrome 74 0.044
140
c HMC039 Hemochromatosis, Type 1 71 0.044
141
P ATS364 Autism 70 0.044
142
P LPS004 Lupus Erythematosus 69 0.044
143
P PRP003 Porphyria Cutanea Tarda 67 0.044
144
P GLL020 Gallbladder Disease 64 0.044
145
P KLL001 Kallmann Syndrome 63 0.044
146
P PRP029 Porphyria 62 0.044
147
P CRG003 Crigler-Najjar Syndrome, Type I 62 0.044
148
DFC004 Deficiency Anemia 62 0.044
149
c THR092 Thrombophilia Due to Thrombin Defect 61 0.044
150
c ATR087 Atrial Standstill 1 59 0.044
151
P HLL001 Hallermann-Streiff Syndrome 58 0.044
152
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 58 0.044
153
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 57 0.044
154
ACR008 Acrocallosal Syndrome 56 0.044
155
RBR001 Roberts Syndrome 55 0.044
156
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55 0.044
157
RPP001 Rapp-Hodgkin Syndrome 51 0.044
158
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.044
159
c WLM018 Wilms Tumor 5 49 0.044
160
c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47 0.044
161
P SDR003 Sideroblastic Anemia 43 0.044
162
c CNG208 Congenital Disorder of Glycosylation, Type Iic 42 0.044
163
PRP056 Porphyria, Acute Hepatic 41 0.044
164
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.044
165
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 40 0.044
166
c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 37 0.044
167
GST020 Gastric Antral Vascular Ectasia 37 0.044
168
c RTN055 Retinitis Pigmentosa 26 36 0.044
169
CRN237 Corneal Dystrophy, Avellino Type 36 0.044
170
P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 36 0.044
171
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 36 0.044
172
FTL004 Fetal Erythroblastosis 35 0.044
173
EPT021 Epithelial Recurrent Erosion Dystrophy 35 0.044
174
OVR093 Overhydrated Hereditary Stomatocytosis 35 0.044
175
RTN072 Retinohepatoendocrinologic Syndrome 34 0.044
176
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 34 0.044
177
LYS021 Loeys-Dietz Syndrome 3 33 0.044
178
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.044
179
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 32 0.044
180
c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 31 0.044
181
c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31 0.044
182
CNG017 Congenital Nonspherocytic Hemolytic Anemia 30 0.044
183
THR017 Thoracoabdominal Syndrome 30 0.044
184
CRY019 Cryohydrocytosis 29 0.044
185
ATX010 Ataxia Neuropathy Spectrum 29 0.044
186
BLD052 Blood Group Incompatibility 26 0.044
187
MYC069 Myoclonic-Astastic Epilepsy 24 0.044
188
MLR023 Melorheostosis, Isolated 23 0.044
189
BLD163 Blood Group, Dombrock System 23 0.044
190
P JVN024 Juvenile Hereditary Hemochromatosis 22 0.044
191
PRT126 Protocadherin-Alpha Gene Cluster 21 0.044
192
HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21 0.044
193
P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 18 0.044
194
AND005 Androgen Insensitivity Syndrome, Mild 16 0.044
195
PST092 Posttransplant Acute Limbic Encephalitis 11 0.044
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