Search results for mucolipidosis

120 hits were found for mucolipidosis

# Family MCID Name MIFTS Score
1
c MCL046 Mucolipidosis Iii Alpha/beta 50 10.356
2
c MCL016 Mucolipidosis Iii Gamma 39 10.181
3
P MCL013 Mucolipidosis Iv 67 10.003
4
c MCL062 Mucolipidosis Ii Alpha/beta 58 9.776
5
GLY031 Glycoproteinosis 31 5.214
6
NRM019 Neuraminidase Deficiency 47 4.113
7
INC022 Inclusion-Cell Disease 33 3.384
8
c BLD140 Blood Group, I System 37 0.673
9
LYS002 Lysosomal Storage Disease 56 0.148
10
MCL022 Mucolipidoses 27 0.148
11
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.138
12
P HYP069 Hyperparathyroidism 58 0.117
13
RTN023 Retinitis 52 0.117
14
P ANR048 Aniridia 1 68 0.104
15
AGN016 Aging 65 0.104
16
CRP001 Carpal Tunnel Syndrome 64 0.104
17
STT041 Stuttering 52 0.104
18
MCL009 Mcleod Syndrome 45 0.104
19
P MNN018 Mannosidosis 44 0.104
20
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43 0.104
21
DYN002 Doyne Honeycomb Retinal Dystrophy 35 0.104
22
MNN028 Mononeuropathy of the Median Nerve, Mild 35 0.104
23
PCM001 Pacman Dysplasia 23 0.104
24
ANR038 Anorexia Nervosa 1 21 0.104
25
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.104
26
BLD137 Blood Group--Ahonen 17 0.104
27
P HPT021 Hepatitis 75 0.090
28
P KDN018 Kidney Disease 69 0.090
29
P CRN037 Craniosynostosis 68 0.090
30
RCK004 Rickets 63 0.090
31
P ENC018 Encephalopathy 58 0.090
32
P RTN016 Retinal Degeneration 56 0.090
33
SPC005 Speech Disorder 44 0.090
34
NRN002 Neuronitis 43 0.090
35
CRB025 Carbohydrate Metabolic Disorder 38 0.090
36
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.090
37
ART014 Articulation Disorder 31 0.090
38
ALR002 Al-Raqad Syndrome 30 0.090
39
P NRV007 Nervous System Disease 75 0.074
40
P MTC003 Metachromatic Leukodystrophy 72 0.074
41
P TYS001 Tay-Sachs Disease 71 0.074
42
P TBR001 Tuberous Sclerosis 69 0.074
43
P HYD006 Hydrocephalus 68 0.074
44
P THR014 Thrombocytopenia 65 0.074
45
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.074
46
CHL068 Cholestasis 60 0.074
47
P PLY014 Polycystic Kidney Disease 60 0.074
48
c MCP004 Mucopolysaccharidosis Iv 60 0.074
49
P FCS002 Fucosidosis 59 0.074
50
MLT135 Multiple Sulfatase Deficiency 54 0.074
51
GLC012 Galactosialidosis 53 0.074
52
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.074
53
MSC033 Muscle Disorders 53 0.074
54
c GNG001 Gangliosidosis Gm1 52 0.074
55
SPH010 Sphingolipidosis 48 0.074
56
SKL017 Skeletal Dysplasias 48 0.074
57
MYC033 Myoclonus 40 0.074
58
P HYP265 Hypotonia 40 0.074
59
ATS010 Autosomal Recessive Disease 40 0.074
60
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.074
61
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.074
62
P PLM037 Pulmonary Hypertension 79 0.052
63
P DLT002 Dilated Cardiomyopathy 76 0.052
64
P OST002 Osteoporosis 75 0.052
65
FBR012 Fabry Disease 72 0.052
66
SMT004 Smith-Lemli-Opitz Syndrome 70 0.052
67
P EPL164 Epilepsy 70 0.052
68
SCH036 Scheie Syndrome 68 0.052
69
P NMN002 Niemann-Pick Disease 68 0.052
70
SND001 Sandhoff Disease 65 0.052
71
GNG013 Gingivitis 64 0.052
72
P NRP001 Neuropathy 63 0.052
73
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 0.052
74
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.052
75
P EXN002 Exanthem 62 0.052
76
P BRD002 Bardet-Biedl Syndrome 61 0.052
77
c BRD014 Bardet-Biedl Syndrome 2 58 0.052
78
RTN018 Retinal Disease 56 0.052
79
P SCL018 Scoliosis 56 0.052
80
c BRD011 Bardet-Biedl Syndrome 10 56 0.052
81
BNF002 Bone Fracture 56 0.052
82
c FRC011 Fructose Intolerance, Hereditary 56 0.052
83
CYS010 Cystinosis 55 0.052
84
ABL002 Ablepharon-Macrostomia Syndrome 55 0.052
85
STR020 Strabismus 55 0.052
86
c BRD013 Bardet-Biedl Syndrome 12 55 0.052
87
HRL003 Hurler Syndrome 55 0.052
88
c BRD012 Bardet-Biedl Syndrome 11 55 0.052
89
LPD009 Lipid Storage Disease 53 0.052
90
HPT082 Hepatic Adenomas, Familial 52 0.052
91
c MCP043 Mucopolysaccharidosis, Type Iiia 52 0.052
92
GNG012 Gingival Overgrowth 52 0.052
93
P MNN019 Mannosidosis, Beta a, Lysosomal 52 0.052
94
P CLR019 Color Blindness 50 0.052
95
LRN003 Learning Disability 49 0.052
96
DYS018 Dysostosis 48 0.052
97
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.052
98
HYP017 Hypophosphatemia 45 0.052
99
IRN002 Iron Metabolism Disease 45 0.052
100
ADP007 Adie Pupil 41 0.052
101
SPS057 Spasticity 41 0.052
102
SCN001 Secondary Hyperparathyroidism of Renal Origin 40 0.052
103
c PRG011 Progressive Myoclonus Epilepsy 40 0.052
104
AYM001 Ayme-Gripp Syndrome 40 0.052
105
c GM2005 Gm2-Gangliosidosis, Ab Variant 39 0.052
106
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.052
107
NCR001 Necrotizing Ulcerative Gingivitis 38 0.052
108
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37 0.052
109
MCP033 Mucopolysaccharidoses 36 0.052
110
P MYC026 Myoclonus Epilepsy 35 0.052
111
P GNG010 Gangliosidosis Gm2 35 0.052
112
FND002 Fundus Dystrophy 34 0.052
113
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.052
114
DGT005 Digital Arthropathy-Brachydactyly, Familial 25 0.052
115
MNG001 Mongolian Spot 23 0.052
116
BLD163 Blood Group, Dombrock System 23 0.052
117
ARG004 Argyria 21 0.052
118
CRB018 Cerebral Lipidosis 21 0.052
119
PLY150 Polykaryocytosis Inducer 20 0.052
120
TCH005 Tièche-Jadassohn Nevus 19 0.052
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