CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
17
|
0.910 |
None |
1.000 |
9 |
17
|
1985 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
22
|
0.770 |
None |
1.000 |
42 |
22
|
1985 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.700 |
moderate |
0.987 |
75 |
11
|
1993 |
2019 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.700 |
None |
1.000 |
6 |
7
|
1985 |
2005 |
Charcot-Marie-Tooth disease, Type 4A, axonal form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2003 |
2005 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.220 |
None |
1.000 |
3 |
|
2000 |
2015 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.130 |
None |
1.000 |
3 |
|
2008 |
2012 |
Partial Paralysis (Paresis) Vocal Cords
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
|
0.130 |
None |
1.000 |
3 |
|
2002 |
2008 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.120 |
None |
1.000 |
2 |
1
|
2011 |
2013 |
Sensory neuropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
116
|
15
|
0.110 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.110 |
None |
1.000 |
1 |
3
|
2003 |
2003 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.100 |
None |
1.000 |
18 |
4
|
1993 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Waist Circumference
|
phenotype |
|
Clinical Attribute
|
70
|
183
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Polysomnography
|
phenotype |
|
Diagnostic Procedure
|
119
|
249
|
0.100 |
None |
1.000 |
1 |
3
|
2007 |
2007 |
Axonal degeneration/regeneration
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|