Search results for mpz

122 hits were found for mpz

# Family MCID Name MIFTS Score
1
c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32 11.478
2
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 41 11.218
3
P CHR071 Charcot-Marie-Tooth Disease 65 5.810
4
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 5.211
5
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 47 4.930
6
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 51 4.259
7
CHR629 Charcot-Marie-Tooth Disease and Deafness 52 4.218
8
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 4.088
9
c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 38 3.842
10
c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39 3.807
11
P NRP001 Neuropathy 56 3.750
12
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 57 3.451
13
TTH006 Tooth Disease 46 3.346
14
P PLY019 Polyneuropathy 56 2.551
15
SNS003 Sensory Peripheral Neuropathy 54 2.533
16
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57 2.399
17
P MLT020 Multiple Sclerosis 72 2.367
18
P PLZ001 Pelizaeus-Merzbacher Disease 64 2.367
19
P GLL022 Guillain-Barre Syndrome 59 2.367
20
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59 2.367
21
P OPT009 Optic Neuritis 57 2.367
22
NRT004 Neuritis 52 2.367
23
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55 2.136
24
c HRD088 Hereditary Neuropathies 37 2.117
25
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 2.076
26
P TRM003 Tremor 54 2.001
27
P MTC003 Metachromatic Leukodystrophy 70 1.933
28
CRP001 Carpal Tunnel Syndrome 67 1.933
29
P MTR014 Motor Neuron Disease 65 1.933
30
NRM005 Neuromuscular Disease 64 1.933
31
NRL005 Neurilemmoma 60 1.933
32
P LKD001 Leukodystrophy 59 1.933
33
DBT010 Diabetic Neuropathy 54 1.933
34
DMY004 Demyelinating Disease 52 1.933
35
P PLY020 Polyradiculoneuropathy 48 1.933
36
WLL004 Wallerian Degeneration 39 1.933
37
c ATM098 Autoimmune Peripheral Neuropathy 32 1.933
38
P PRP019 Peripheral Nervous System Disease 58 1.653
39
c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 31 1.599
40
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 1.483
41
GNT176 Genetic Motor Neuron Disease 24 1.452
42
c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 59 1.415
43
P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56 1.415
44
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48 1.415
45
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 46 1.415
46
c PRG020 Paragangliomas 3 39 1.415
47
HRD218 Hereditary Stomatocytosis 32 1.415
48
KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 20 1.415
49
ATS093 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain 5 1.415
50
P BRD002 Bardet-Biedl Syndrome 66 1.367
51
c NMN013 Niemann-Pick Disease, Type a 62 1.367
52
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.367
53
ACT049 Acute Disseminated Encephalomyelitis 51 1.367
54
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 51 1.367
55
c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50 1.367
56
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50 1.367
57
P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 49 1.367
58
c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48 1.367
59
P HRD021 Hereditary Sensory Neuropathy 48 1.367
60
c WRD020 Waardenburg Syndrome, Type 4a 48 1.367
61
c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47 1.367
62
c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 46 1.367
63
c CHR376 Charcot-Marie-Tooth Disease, Type 4d 46 1.367
64
c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46 1.367
65
c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 45 1.367
66
c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 45 1.367
67
c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45 1.367
68
c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45 1.367
69
c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 43 1.367
70
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 43 1.367
71
MNN017 Mononeuropathy 42 1.367
72
c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41 1.367
73
c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41 1.367
74
c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 40 1.367
75
c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 40 1.367
76
NRV004 Nerve Compression Syndrome 40 1.367
77
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39 1.367
78
BRC011 Brachial Plexus Neuropathy 39 1.367
79
ADP007 Adie Pupil 39 1.367
80
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 37 1.367
81
AMY003 Amyotrophic Neuralgia 35 1.367
82
c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35 1.367
83
c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 34 1.367
84
c DST106 Distal Hereditary Motor Neuronopathy Type 2 34 1.367
85
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 34 1.367
86
c ATM089 Autoimmune Neuropathy 34 1.367
87
FTD001 Foot Drop 33 1.367
88
c DFN163 Deafness, Autosomal Dominant 7 31 1.367
89
c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30 1.367
90
P PPL023 Pupil Disease 28 1.367
91
c CHR026 Charcot-Marie-Tooth Disease Type X 25 1.367
92
c DFN158 Deafness, Autosomal Dominant 49 25 1.367
93
CHR490 Chromosome 10q23 Deletion Syndrome 25 1.367
94
c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 22 1.367
95
ARG003 Argyll Robertson Pupil 22 1.367
96
ABN004 Abnormal Pupillary Function 15 1.367
97
c BRN108 Branchiootic Syndrome 1 62 0.153
98
P DMY001 Demyelinating Polyneuropathy 43 0.116
99
P AXN001 Axonal Neuropathy 36 0.116
100
P PHC003 Pheochromocytoma 71 0.100
101
PRT058 Pure Autonomic Failure 59 0.082
102
P MSC003 Muscular Atrophy 52 0.082
103
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 44 0.082
104
TRP021 Trpv4-Associated Disorders 13 0.082
105
c DLT002 Dilated Cardiomyopathy 79 0.058
106
P RSP003 Respiratory Failure 74 0.058
107
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 65 0.058
108
P SCL018 Scoliosis 60 0.058
109
P SNS001 Sensorineural Hearing Loss 60 0.058
110
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.058
111
NRG002 Neurogenic Bladder 55 0.058
112
IMP005 Impotence 52 0.058
113
PLM029 Palmoplantar Keratosis 47 0.058
114
INH023 Inherited Cancer-Predisposing Syndrome 46 0.058
115
ATN005 Autonomic Dysfunction 46 0.058
116
ADR040 Adrenal Gland Pheochromocytoma 46 0.058
117
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.058
118
P HYP265 Hypotonia 43 0.058
119
P DYS021 Dysautonomia 39 0.058
120
P ADT009 Auditory Neuropathy Spectrum Disorder 36 0.058
121
CHR287 Chronic Polyradiculoneuritis 9 0.058
122
GJB007 Gjb1 Disorders: Charcot Marie Tooth Neuropathy and Central Nervous System Phenotypes 8 0.058
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