Search results for "mucolipidosis"

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

114 hits were found for 'mucolipidosis'

# Family MCID Name MIFTS Score
1
c MCL046 Mucolipidosis Iii Alpha/beta 44 10.419
2
c MCL016 Mucolipidosis Iii Gamma 38 10.152
3
c MCL062 Mucolipidosis Ii Alpha/beta 60 9.851
4
P MCL013 Mucolipidosis Iv 63 9.599
5
P SLD010 Sialidosis, Type I 54 5.979
6
LYS002 Lysosomal Storage Disease 52 0.128
7
P MCP010 Mucopolysaccharidosis 58 0.117
8
P HYP069 Hyperparathyroidism 57 0.117
9
RTN023 Retinitis 49 0.117
10
P RTN016 Retinal Degeneration 54 0.105
11
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.105
12
DYN001 Doyne Honeycomb Degeneration of Retina 27 0.105
13
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 22 0.105
14
P ENC018 Encephalopathy 59 0.091
15
P INT063 Intellectual Disability 53 0.091
16
MRC001 Marchiafava Bignami Disease 50 0.091
17
c INH020 Inherited Metabolic Disorder 49 0.091
18
GLT021 Glutaricaciduria, Type I 48 0.091
19
CRB025 Carbohydrate Metabolic Disorder 47 0.091
20
P MNN018 Mannosidosis 41 0.091
21
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 35 0.091
22
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 34 0.091
23
P MCL022 Mucolipidoses 26 0.091
24
P NRV007 Nervous System Disease 71 0.074
25
P HPT021 Hepatitis 70 0.074
26
SKN016 Skin Disease 68 0.074
27
P CRD011 Cardiomyopathy 67 0.074
28
P CRN037 Craniosynostosis 65 0.074
29
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.074
30
P NRP001 Neuropathy 60 0.074
31
P RCK004 Rickets 59 0.074
32
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.074
33
RTN018 Retinal Disease 56 0.074
34
DSS008 Disease of Mental Health 55 0.074
35
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.074
36
P MSC033 Muscle Disorders 52 0.074
37
STT041 Stuttering 48 0.074
38
SKL014 Skeletal Dysplasia 46 0.074
39
SKL017 Skeletal Dysplasias 45 0.074
40
CRN024 Corneal Disease 44 0.074
41
SPC005 Speech Disorder 43 0.074
42
BND014 Bone Development Disease 42 0.074
43
NRN002 Neuronitis 42 0.074
44
MYC033 Myoclonus 41 0.074
45
ATS010 Autosomal Recessive Disease 41 0.074
46
P HYP265 Hypotonia 39 0.074
47
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.074
48
ALR002 Al-Raqad Syndrome 36 0.074
49
TTR016 Tetra-Amelia Syndrome 36 0.074
50
ACR002 Acrocapitofemoral Dysplasia 36 0.074
51
P ATX010 Ataxia Neuropathy Spectrum 28 0.074
52
PCM001 Pacman Dysplasia 20 0.074
53
P PLM037 Pulmonary Hypertension 79 0.052
54
STR067 Stroke, Ischemic 77 0.052
55
c DLT002 Dilated Cardiomyopathy 75 0.052
56
SMT004 Smith-Lemli-Opitz Syndrome 67 0.052
57
P HYD006 Hydrocephalus 67 0.052
58
P EPL164 Epilepsy 66 0.052
59
P OST002 Osteoporosis 64 0.052
60
P THR014 Thrombocytopenia 64 0.052
61
P BRD002 Bardet-Biedl Syndrome 62 0.052
62
c CNT035 Central Nervous System Disease 59 0.052
63
LPD008 Lipid Metabolism Disorder 58 0.052
64
CHL068 Cholestasis 58 0.052
65
P NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 57 0.052
66
P EXN002 Exanthem 57 0.052
67
ABL002 Ablepharon-Macrostomia Syndrome 57 0.052
68
P SCL018 Scoliosis 56 0.052
69
CND002 Conduct Disorder 56 0.052
70
P FRC002 Fructose Intolerance 53 0.052
71
P STR020 Strabismus 53 0.052
72
ALL026 Allergic Hypersensitivity Disease 53 0.052
73
MLT135 Multiple Sulfatase Deficiency 53 0.052
74
CYS010 Cystinosis 51 0.052
75
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.052
76
LRN003 Learning Disability 51 0.052
77
OPT006 Optic Nerve Disease 51 0.052
78
HPT074 Hepatic Adenoma, Somatic 51 0.052
79
LPD009 Lipid Storage Disease 49 0.052
80
CRB150 Cerebral Creatine Deficiency Syndrome 2 48 0.052
81
BNF002 Bone Fracture 47 0.052
82
P CLR019 Color Blindness 47 0.052
83
CRB033 Cerebral Degeneration 46 0.052
84
SPC010 Speech and Communication Disorders 46 0.052
85
FND002 Fundus Dystrophy 46 0.052
86
RNL078 Renal Dysplasia 45 0.052
87
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.052
88
DYS018 Dysostosis 44 0.052
89
ATN004 Autonomic Neuropathy 44 0.052
90
P NRP041 Neuropathy, Hereditary Sensory, Type Ie 42 0.052
91
SPS057 Spasticity 42 0.052
92
CRN025 Corneal Dystrophy 41 0.052
93
c HYP072 Hypersensitivity Reaction Type Iii Disease 41 0.052
94
IMP006 Impulse Control Disorder 40 0.052
95
BLD054 Blood Protein Disease 40 0.052
96
CRB159 Cerebral Visual Impairment 40 0.052
97
NTR005 Nutritional Deficiency Disease 39 0.052
98
BNS002 Bone Structure Disease 36 0.052
99
GLB003 Globe Disease 35 0.052
100
c DGT005 Digital Arthropathy-Brachydactyly, Familial 35 0.052
101
FST001 Foster-Kennedy Syndrome 34 0.052
102
BND004 Bone Deterioration Disease 34 0.052
103
ADP007 Adie Pupil 34 0.052
104
MYC026 Myoclonus Epilepsy 33 0.052
105
CVT001 Cavitary Optic Disc Anomalies 32 0.052
106
EYD001 Eye Degenerative Disease 31 0.052
107
ART014 Articulation Disorder 31 0.052
108
CRN022 Corneal Degeneration 31 0.052
109
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31 0.052
110
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 30 0.052
111
HNM002 Hinman Syndrome 25 0.052
112
AND005 Androgen Insensitivity Syndrome, Mild 16 0.052
113
c HRD187 Hereditary Sensory and Autonomic Neuropathy Type 1e 15 0.052
114
DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 13 0.052