Search results for mucolipidosis

124 hits were found for mucolipidosis

# Family MCID Name MIFTS Score
1
c MCL016 Mucolipidosis Iii Gamma 38 9.432
2
c MCL046 Mucolipidosis Iii Alpha/beta 40 9.414
3
P MCL013 Mucolipidosis Iv 62 8.940
4
c MCL062 Mucolipidosis Ii Alpha/beta 48 6.916
5
INC022 Inclusion-Cell Disease 46 6.375
6
GLY031 Glycoproteinosis 28 4.472
7
P SLD010 Sialidosis, Type I 54 3.948
8
PSD100 Pseudo-Hurler Polydystrophy 31 2.661
9
P MCP010 Mucopolysaccharidosis 60 0.116
10
P HYP069 Hyperparathyroidism 58 0.116
11
LYS002 Lysosomal Storage Disease 52 0.116
12
RTN023 Retinitis 50 0.116
13
P RTN016 Retinal Degeneration 54 0.104
14
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 37 0.104
15
DYN001 Doyne Honeycomb Degeneration of Retina 31 0.104
16
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 21 0.104
17
P ENC018 Encephalopathy 59 0.090
18
P INT063 Intellectual Disability 49 0.090
19
c INH020 Inherited Metabolic Disorder 49 0.090
20
P MNN018 Mannosidosis 47 0.090
21
CRB025 Carbohydrate Metabolic Disorder 46 0.090
22
GLT021 Glutaricaciduria, Type I 46 0.090
23
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.090
24
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 35 0.090
25
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.090
26
P MCL022 Mucolipidoses 25 0.090
27
P NRV007 Nervous System Disease 71 0.073
28
P HPT021 Hepatitis 69 0.073
29
P CRD011 Cardiomyopathy 68 0.073
30
P TBR001 Tuberous Sclerosis 67 0.073
31
P KDN018 Kidney Disease 66 0.073
32
SKN016 Skin Disease 66 0.073
33
P CRN037 Craniosynostosis 66 0.073
34
P RCK004 Rickets 61 0.073
35
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.073
36
P NRP001 Neuropathy 59 0.073
37
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.073
38
P PLY014 Polycystic Kidney Disease 53 0.073
39
RTN018 Retinal Disease 53 0.073
40
DSS008 Disease of Mental Health 52 0.073
41
P MSC033 Muscle Disorders 52 0.073
42
SKL014 Skeletal Dysplasia 46 0.073
43
SKL017 Skeletal Dysplasias 45 0.073
44
CRN024 Corneal Disease 44 0.073
45
MYC033 Myoclonus 42 0.073
46
ATS010 Autosomal Recessive Disease 41 0.073
47
NRN002 Neuronitis 41 0.073
48
BND014 Bone Development Disease 40 0.073
49
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.073
50
ALR002 Al-Raqad Syndrome 36 0.073
51
ACR002 Acrocapitofemoral Dysplasia 33 0.073
52
PCM001 Pacman Dysplasia 20 0.073
53
P PLM037 Pulmonary Hypertension 79 0.052
54
c DLT002 Dilated Cardiomyopathy 76 0.052
55
STR067 Stroke, Ischemic 75 0.052
56
SMT004 Smith-Lemli-Opitz Syndrome 66 0.052
57
P HYD006 Hydrocephalus 66 0.052
58
P EPL164 Epilepsy 66 0.052
59
P THR014 Thrombocytopenia 64 0.052
60
P OST002 Osteoporosis 64 0.052
61
P BRD002 Bardet-Biedl Syndrome 63 0.052
62
c CNT035 Central Nervous System Disease 60 0.052
63
CHL068 Cholestasis 59 0.052
64
LPD008 Lipid Metabolism Disorder 58 0.052
65
ABL002 Ablepharon-Macrostomia Syndrome 57 0.052
66
P EXN002 Exanthem 57 0.052
67
P SCL018 Scoliosis 55 0.052
68
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 54 0.052
69
MLT135 Multiple Sulfatase Deficiency 53 0.052
70
CYS010 Cystinosis 53 0.052
71
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.052
72
P FRC002 Fructose Intolerance 52 0.052
73
ALL026 Allergic Hypersensitivity Disease 52 0.052
74
OPT006 Optic Nerve Disease 52 0.052
75
P STR020 Strabismus 51 0.052
76
BNF002 Bone Fracture 50 0.052
77
HPT074 Hepatic Adenoma, Somatic 50 0.052
78
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.052
79
LPD009 Lipid Storage Disease 49 0.052
80
LRN003 Learning Disability 49 0.052
81
ATN005 Autonomic Dysfunction 49 0.052
82
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.052
83
STT041 Stuttering 48 0.052
84
FND002 Fundus Dystrophy 46 0.052
85
P CLR019 Color Blindness 46 0.052
86
P HRD021 Hereditary Sensory Neuropathy 46 0.052
87
RNL078 Renal Dysplasia 45 0.052
88
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.052
89
CRB033 Cerebral Degeneration 44 0.052
90
DYS018 Dysostosis 44 0.052
91
c HYP073 Hypersensitivity Reaction Type Iv Disease 43 0.052
92
SPS057 Spasticity 42 0.052
93
CRN025 Corneal Dystrophy 42 0.052
94
c NRP041 Neuropathy, Hereditary Sensory, Type Ie 42 0.052
95
IRN002 Iron Metabolism Disease 41 0.052
96
SPC010 Speech and Communication Disorders 41 0.052
97
AYM001 Ayme-Gripp Syndrome 41 0.052
98
SPC005 Speech Disorder 41 0.052
99
c PRG011 Progressive Myoclonus Epilepsy 39 0.052
100
P HYP265 Hypotonia 38 0.052
101
c HYP072 Hypersensitivity Reaction Type Iii Disease 38 0.052
102
BLD054 Blood Protein Disease 37 0.052
103
BNS002 Bone Structure Disease 37 0.052
104
TTR016 Tetra-Amelia Syndrome 36 0.052
105
ADP007 Adie Pupil 34 0.052
106
P MYC026 Myoclonus Epilepsy 34 0.052
107
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 33 0.052
108
c DGT005 Digital Arthropathy-Brachydactyly, Familial 33 0.052
109
CRB159 Cerebral Visual Impairment 33 0.052
110
GLB003 Globe Disease 32 0.052
111
c HRD185 Hereditary Spastic Paraplegia 3a 32 0.052
112
CVT001 Cavitary Optic Disc Anomalies 31 0.052
113
BND004 Bone Deterioration Disease 31 0.052
114
FST001 Foster-Kennedy Syndrome 31 0.052
115
P ATX010 Ataxia Neuropathy Spectrum 30 0.052
116
P SPS012 Spastic Paraplegia 3a 30 0.052
117
EYD001 Eye Degenerative Disease 30 0.052
118
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 29 0.052
119
CRN022 Corneal Degeneration 28 0.052
120
MNG001 Mongolian Spot 26 0.052
121
HNM002 Hinman Syndrome 25 0.052
122
AND005 Androgen Insensitivity Syndrome, Mild 16 0.052
123
c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 15 0.052
124
DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 12 0.052
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