Search results for "mucolipidosis"

The MalaCard for "mucolipidosis" has been retired.
Searching MalaCards for entries containing "mucolipidosis"

109 hits were found for 'mucolipidosis'

# Family MCID Name MIFTS Score
1
c MCL046 Mucolipidosis Iii Alpha/beta 37 9.256
2
P MCL016 Mucolipidosis Iii Gamma 33 9.247
3
c MCL013 Mucolipidosis Iv 44 7.511
4
c MCL062 Mucolipidosis Ii Alpha/beta 47 6.801
5
INC022 Inclusion-Cell Disease 46 6.297
6
P GNG009 Gangliosidosis 58 5.129
7
GLY031 Glycoproteinosis 28 4.383
8
P SLD010 Sialidosis, Type I 41 3.850
9
PSD100 Pseudo-Hurler Polydystrophy 30 2.675
10
DYN001 Doyne Honeycomb Degeneration of Retina 27 0.153
11
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 22 0.153
12
LYS002 Lysosomal Storage Disease 51 0.143
13
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.132
14
RTN023 Retinitis 49 0.132
15
P MCP010 Mucopolysaccharidosis 58 0.121
16
P HYP069 Hyperparathyroidism 57 0.121
17
P RTN016 Retinal Degeneration 50 0.121
18
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 34 0.108
19
ALR002 Al-Raqad Syndrome 36 0.108
20
ATS010 Autosomal Recessive Disease 40 0.108
21
GLT021 Glutaricaciduria, Type I 47 0.094
22
P TBR001 Tuberous Sclerosis 68 0.094
23
P KDN018 Kidney Disease 64 0.094
24
P NRV007 Nervous System Disease 71 0.094
25
STT041 Stuttering 48 0.094
26
P ENC018 Encephalopathy 59 0.094
27
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 32 0.094
28
c CNT035 Central Nervous System Disease 60 0.094
29
P PLY014 Polycystic Kidney Disease 60 0.094
30
P INT063 Intellectual Disability 46 0.094
31
CRB025 Carbohydrate Metabolic Disorder 46 0.094
32
SPC005 Speech Disorder 41 0.094
33
MRC001 Marchiafava Bignami Disease 33 0.094
34
P MSC033 Muscle Disorders 52 0.094
35
c INH020 Inherited Metabolic Disorder 49 0.094
36
P NRP001 Neuropathy 57 0.094
37
SKL014 Skeletal Dysplasia 44 0.094
38
P MNN018 Mannosidosis 40 0.094
39
SKL017 Skeletal Dysplasias 41 0.094
40
BNS002 Bone Structure Disease 37 0.094
41
P MCL022 Mucolipidoses 25 0.094
42
SKN016 Skin Disease 69 0.076
43
P OST002 Osteoporosis 63 0.076
44
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.076
45
P STR020 Strabismus 55 0.076
46
P RCK004 Rickets 59 0.076
47
P HPT021 Hepatitis 74 0.076
48
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31 0.076
49
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.076
50
DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 36 0.076
51
c NRP041 Neuropathy, Hereditary Sensory, Type Ie 35 0.076
52
P CRN037 Craniosynostosis 66 0.076
53
c DGT005 Digital Arthropathy-Brachydactyly, Familial 36 0.076
54
RTN018 Retinal Disease 55 0.076
55
HPT074 Hepatic Adenoma, Somatic 35 0.076
56
ACR002 Acrocapitofemoral Dysplasia 35 0.076
57
c PLY059 Polycystic Kidney Disease, Adult Type I 36 0.076
58
P CRD011 Cardiomyopathy 66 0.076
59
P SCL018 Scoliosis 56 0.076
60
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.076
61
LRN003 Learning Disability 49 0.076
62
PCM001 Pacman Dysplasia 20 0.076
63
P HRD021 Hereditary Sensory Neuropathy 42 0.076
64
CRN024 Corneal Disease 45 0.076
65
MYC033 Myoclonus 41 0.076
66
DYS018 Dysostosis 43 0.076
67
ART014 Articulation Disorder 29 0.076
68
ATN004 Autonomic Neuropathy 44 0.076
69
NRN002 Neuronitis 40 0.076
70
BND014 Bone Development Disease 40 0.076
71
BNF002 Bone Fracture 46 0.076
72
SMT004 Smith-Lemli-Opitz Syndrome 66 0.054
73
MLT135 Multiple Sulfatase Deficiency 52 0.054
74
c DLT002 Dilated Cardiomyopathy 75 0.054
75
P PLM037 Pulmonary Hypertension 78 0.054
76
P HYD006 Hydrocephalus 68 0.054
77
CRB150 Cerebral Creatine Deficiency Syndrome 2 47 0.054
78
P BRD002 Bardet-Biedl Syndrome 64 0.054
79
CYS010 Cystinosis 51 0.054
80
NTR005 Nutritional Deficiency Disease 51 0.054
81
ALL026 Allergic Hypersensitivity Disease 53 0.054
82
LPD008 Lipid Metabolism Disorder 42 0.054
83
SPC010 Speech and Communication Disorders 42 0.054
84
CHL068 Cholestasis 57 0.054
85
OPT006 Optic Nerve Disease 47 0.054
86
c PRG011 Progressive Myoclonus Epilepsy 41 0.054
87
P CLR019 Color Blindness 46 0.054
88
P THR014 Thrombocytopenia 63 0.054
89
CRB159 Cerebral Visual Impairment 34 0.054
90
P HYP071 Hypersensitivity Reaction Type Ii Disease 46 0.054
91
RNL078 Renal Dysplasia 48 0.054
92
DSS008 Disease of Mental Health 48 0.054
93
P EPL164 Epilepsy 60 0.054
94
LPD009 Lipid Storage Disease 49 0.054
95
CVT001 Cavitary Optic Disc Anomalies 25 0.054
96
FND002 Fundus Dystrophy 46 0.054
97
CRN022 Corneal Degeneration 29 0.054
98
P EXN002 Exanthem 57 0.054
99
CRN025 Corneal Dystrophy 40 0.054
100
FST001 Foster-Kennedy Syndrome 31 0.054
101
MNG001 Mongolian Spot 27 0.054
102
P MYC026 Myoclonus Epilepsy 33 0.054
103
CRB033 Cerebral Degeneration 45 0.054
104
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.054
105
GLB003 Globe Disease 34 0.054
106
BLD054 Blood Protein Disease 38 0.054
107
c HYP072 Hypersensitivity Reaction Type Iii Disease 39 0.054
108
EYD001 Eye Degenerative Disease 31 0.054
109
BND004 Bone Deterioration Disease 33 0.054