Search results for Aceruloplasminemia

254 hits were found for Aceruloplasminemia

# Family MCID Name MIFTS Score
1
ACR006 Aceruloplasminemia 65 12.614
2
HMS001 Hemosiderosis 54 0.234
3
P RRH023 Rare Hereditary Hemochromatosis 41 0.231
4
ATS010 Autosomal Recessive Disease 48 0.213
5
P RTN016 Retinal Degeneration 53 0.168
6
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.158
7
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 0.112
8
MCR018 Microcytic Anemia 47 0.105
9
c HMC039 Hemochromatosis, Type 1 74 0.097
10
P MVM001 Movement Disease 63 0.097
12
P BLP003 Blepharospasm 44 0.088
13
WLS001 Wilson Disease 71 0.079
14
P DYS154 Dystonia 65 0.079
15
CHR073 Choreatic Disease 52 0.079
16
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 0.079
17
DFC004 Deficiency Anemia 70 0.069
18
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.069
19
P DBT009 Diabetes Mellitus 64 0.069
20
IRN002 Iron Metabolism Disease 57 0.069
21
P TRM003 Tremor 54 0.069
22
P SCH015 Schizophrenia 74 0.056
23
ABT001 Abetalipoproteinemia 69 0.056
24
P HYP086 Hypothyroidism 69 0.056
25
P THL005 Thalassemia 60 0.056
26
THY029 Thyroid Carcinoma 59 0.056
27
IRN001 Iron Deficiency Anemia 59 0.056
28
CHR105 Choreoacanthocytosis 57 0.056
29
P DBT005 Diabetes Insipidus 55 0.056
30
PNC001 Pancytopenia 54 0.056
31
MCL009 Mcleod Syndrome 46 0.056
32
P SDR002 Siderosis 44 0.056
33
SPR066 Superficial Siderosis 39 0.056
34
HYP001 Hypochromic Microcytic Anemia 38 0.056
35
THY039 Thyrotropin-Releasing Hormone Deficiency 28 0.056
36
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.040
37
P ATX030 Ataxia-Telangiectasia 82 0.040
38
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.040
39
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.040
40
c BTT014 Beta-Thalassemia 74 0.040
41
c HYP836 Hypercholesterolemia, Familial, 1 73 0.040
42
c SPN225 Spondyloarthropathy 1 73 0.040
43
MLT157 Multiple System Atrophy 1 70 0.040
44
c GLY008 Glycogen Storage Disease Ii 70 0.040
45
ADL002 Adult Syndrome 70 0.040
46
c PNC108 Pancreatitis, Hereditary 70 0.040
47
CRT072 Creutzfeldt-Jakob Disease 70 0.040
48
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.040
49
P ANG001 Angelman Syndrome 69 0.040
50
P LVR013 Liver Disease 68 0.040
51
c NMN015 Niemann-Pick Disease, Type C1 68 0.040
52
c CNG411 Congenital Disorder of Glycosylation, Type in 68 0.040
53
P HPT021 Hepatitis 67 0.040
54
PSY004 Psychotic Disorder 67 0.040
55
P PRP003 Porphyria Cutanea Tarda 67 0.040
56
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.040
57
P DMN002 Dementia 66 0.040
58
P MCR115 Microvascular Complications of Diabetes 5 66 0.040
59
ART001 Arterial Tortuosity Syndrome 66 0.040
61
HYP056 Hypoglycemia 66 0.040
62
AND002 Androgen Insensitivity Syndrome 66 0.040
63
KHL003 Kohlschutter-Tonz Syndrome 65 0.040
64
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.040
65
P MTR014 Motor Neuron Disease 65 0.040
66
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65 0.040
67
BRR014 Barrett Esophagus 65 0.040
68
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 65 0.040
69
P PRS038 Personality Disorder 65 0.040
70
c DBT099 Diabetes Mellitus, Type I 65 0.040
71
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.040
72
MNK001 Menkes Disease 64 0.040
73
CLF027 Cleft Palate, Isolated 64 0.040
74
P FRD001 Friedreich Ataxia 64 0.040
75
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.040
76
PRP083 Porphyria, Acute Intermittent 64 0.040
77
P ANR048 Aniridia 1 63 0.040
78
P HYP069 Hyperparathyroidism 63 0.040
79
c MLG084 Malignant Fibrous Histiocytoma 63 0.040
80
ANR007 Anorexia Nervosa 63 0.040
81
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.040
82
c DYS056 Dystonia 12 62 0.040
83
P TRC086 Trichohepatoenteric Syndrome 1 62 0.040
84
P ACR001 Aicardi-Goutieres Syndrome 62 0.040
85
HSH003 Hashimoto Thyroiditis 62 0.040
86
LVR012 Liver Cirrhosis 62 0.040
87
P PRP029 Porphyria 62 0.040
88
NTR005 Nutritional Deficiency Disease 62 0.040
89
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.040
90
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61 0.040
91
c PRT132 Protoporphyria, Erythropoietic, 1 61 0.040
92
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.040
93
RGH009 Right Atrial Isomerism 60 0.040
94
KFR001 Kufor-Rakeb Syndrome 60 0.040
95
ACN002 Acanthosis Nigricans 60 0.040
96
P CTR002 Cataract 60 0.040
97
OCC006 Occipital Horn Syndrome 60 0.040
98
P AXN002 Axenfeld-Rieger Syndrome 59 0.040
99
DBT087 Diabetes Insipidus, Neurohypophyseal 58 0.040
100
c SPN301 Spinocerebellar Ataxia 2 58 0.040
101
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.040
102
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 58 0.040
103
P ALC033 Alcohol Use Disorder 58 0.040
104
HYP458 Hyper Ige Syndrome 58 0.040
105
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.040
106
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.040
107
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 57 0.040
108
c ANM036 Anemia, Sideroblastic, 1 57 0.040
109
THY122 Thyroid Gland Cancer 57 0.040
110
P PRN023 Prion Disease 57 0.040
111
HYP266 Hypoxia 57 0.040
112
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57 0.040
113
AYM001 Ayme-Gripp Syndrome 57 0.040
114
c GLC112 Galactosemia Iii 56 0.040
115
HMG005 Hemoglobinopathy 56 0.040
116
IMM140 Immunodeficiency 47 56 0.040
117
c GLY005 Glycogen Storage Disease Vi 56 0.040
118
AGN016 Aging 56 0.040
119
c CNG415 Congenital Disorder of Glycosylation, Type Ia 55 0.040
120
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.040
121
P STR020 Strabismus 55 0.040
122
P ALP106 Alport Syndrome 1, X-Linked 55 0.040
123
GLC003 Glucose Intolerance 54 0.040
124
THR013 Thoracic Outlet Syndrome 54 0.040
125
HYP801 Hyperferritinemia with or Without Cataract 53 0.040
126
TXC002 Toxic Encephalopathy 53 0.040
127
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 53 0.040
128
P RTN018 Retinal Disease 53 0.040
129
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 52 0.040
130
c NRD008 Neurodegeneration with Brain Iron Accumulation 3 52 0.040
131
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.040
132
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.040
133
P THY032 Thyroiditis 52 0.040
134
PTH003 Pathologic Nystagmus 52 0.040
135
APR001 Apraxia 52 0.040
136
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.040
137
c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 52 0.040
138
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 51 0.040
139
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 51 0.040
140
c HMC021 Hemochromatosis, Type 2a 51 0.040
141
c HMC035 Hemochromatosis, Type 4 51 0.040
142
c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 51 0.040
143
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.040
144
c ACT078 Acute Porphyria 51 0.040
145
IRN008 Iron Overload in Africa 51 0.040
146
ATR002 Atransferrinemia 50 0.040
147
c HMC009 Hemochromatosis Type 2 50 0.040
148
c HMC010 Hemochromatosis, Type 3 50 0.040
149
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.040
150
c LKD010 Leukodystrophy, Hypomyelinating, 2 49 0.040
151
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.040
152
P CNG003 Congenital Dyserythropoietic Anemia 49 0.040
153
P SDR003 Sideroblastic Anemia 49 0.040
154
SBP001 Subependymal Giant Cell Astrocytoma 49 0.040
155
c HRD026 Hereditary Ataxia 48 0.040
156
RFR010 Refractory Anemia 48 0.040
157
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 48 0.040
158
c PRK071 Parkinson Disease 14, Autosomal Recessive 48 0.040
159
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.040
160
PRS127 Pearson Marrow-Pancreas Syndrome 47 0.040
161
IRN004 Iron-Refractory Iron Deficiency Anemia 47 0.040
162
c INH020 Inherited Metabolic Disorder 47 0.040
163
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.040
164
RTN023 Retinitis 46 0.040
165
CNT019 Central Neurocytoma 46 0.040
166
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.040
167
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.040
168
c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 46 0.040
169
P MYC033 Myoclonus 46 0.040
170
c LYM145 Lymphatic Malformation 5 45 0.040
171
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.040
172
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.040
173
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45 0.040
174
KR002 Kuru 45 0.040
175
MLK003 Melkersson-Rosenthal Syndrome 45 0.040
176
SPS057 Spasticity 45 0.040
177
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 45 0.040
178
P ATX024 Ataxia-Oculomotor Apraxia 3 44 0.040
179
CRB027 Cerebellar Disease 44 0.040
180
c HYP272 Hypercholesterolemia, Familial, 3 44 0.040
181
HPT082 Hepatic Adenomas, Familial 44 0.040
182
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.040
183
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.040
184
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 44 0.040
185
SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 43 0.040
186
P ATX039 Ataxia-Pancytopenia Syndrome 43 0.040
187
MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43 0.040
188
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43 0.040
189
c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42 0.040
190
BNS003 Binswanger's Disease 42 0.040
191
c HMC034 Hemochromatosis, Type 5 42 0.040
192
OBS082 Obstructive Nephropathy 42 0.040
193
NRR001 Neuroretinitis 42 0.040
194
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 41 0.040
195
BSL009 Basal Ganglia Calcification 41 0.040
196
P SPS008 Spastic Ataxia 41 0.040
197
c CNG498 Congenital Disorder of Glycosylation, Type Iin 40 0.040
198
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40 0.040
199
c JBR031 Joubert Syndrome 21 40 0.040
200
ORM002 Oromandibular Dystonia 39 0.040
201
c ERL056 Early-Onset Parkinson's Disease 39 0.040
202
c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39 0.040
203
ADP007 Adie Pupil 39 0.040
204
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.040
205
ACR005 Acrodermatitis 38 0.040
206
c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38 0.040
207
CTN011 Cutaneous Porphyria 38 0.040
208
CRB009 Cerebritis 37 0.040
209
CMB018 Combined Oxidative Phosphorylation Deficiency 7 37 0.040
210
c BLP048 Blepharospasm, Benign Essential 37 0.040
211
OCL015 Oculomotor Apraxia 37 0.040
212
P CRB059 Cerebellar Degeneration 37 0.040
213
MTC112 Mitochondrial Dna-Associated Leigh Syndrome 37 0.040
214
c EPL103 Epilepsy, Familial Adult Myoclonic, 5 37 0.040
215
c HMC019 Hemochromatosis, Type 2b 36 0.040
216
CHR028 Chronic Wasting Disease 35 0.040
217
c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35 0.040
218
c HYP713 Hypermanganesemia with Dystonia 2 35 0.040
219
NRX001 Neuroaxonal Dystrophy 35 0.040
220
c SPS210 Spastic Paraplegia 76, Autosomal Recessive 35 0.040
221
ATX010 Ataxia Neuropathy Spectrum 34 0.040
222
c JBR037 Joubert Syndrome 26 34 0.040
223
c JBR036 Joubert Syndrome 25 33 0.040
224
ALR002 Al-Raqad Syndrome 33 0.040
225
ACT064 Acute Necrotizing Encephalitis 33 0.040
226
c HRD206 Hereditary Lymphedema Ii 33 0.040
227
FLC001 Folic Acid Deficiency Anemia 32 0.040
228
CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 32 0.040
229
c BLD140 Blood Group, I System 32 0.040
230
TRG019 Trigonocephaly with Short Stature and Developmental Delay 32 0.040
231
c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 32 0.040
232
c CLR106 Ciliary Dyskinesia, Primary, 26 32 0.040
233
NRN002 Neuronitis 32 0.040
234
ADR023 Adrenomyodystrophy 31 0.040
235
MTL002 Metal Metabolism Disorder 30 0.040
236
FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 30 0.040
237
MYC088 Mycobacterium Avium Complex Infections 29 0.040
238
MNN024 Meningitis and Encephalitis 29 0.040
239
PRP026 Peripheral Retinal Degeneration 28 0.040
240
DSR031 Disorder of Copper Metabolism 27 0.040
241
HNM002 Hinman Syndrome 27 0.040
242
ISL120 Isolated Cerebellar Agenesis 27 0.040
243
ENT007 Enteropathica 26 0.040
244
P HYP821 Hypermanganesemia with Dystonia 26 0.040
245
CRB024 Cerebral Neuroblastoma 25 0.040
246
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.040
247
BLD163 Blood Group, Dombrock System 24 0.040
248
DSM006 Desmoplastic Infantile Ganglioglioma 23 0.040
249
c HRD210 Hereditary Spastic Paraplegia 23 22 0.040
250
EXT044 Extraventricular Neurocytoma 22 0.040
251
AND005 Androgen Insensitivity Syndrome, Mild 19 0.040
252
P HYP252 Hypochromic Microcytic Anemia with Iron Overload 18 0.040
253
BLD137 Blood Group--Ahonen 16 0.040
254
XLN076 X-Linked Cerebellar Ataxia 14 0.040
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