CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
21
|
0.810 |
None |
1.000 |
23 |
21
|
2004 |
2019 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
11
|
0.760 |
strong |
1.000 |
11 |
11
|
2006 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
10
|
0.700 |
strong |
1.000 |
6 |
10
|
2006 |
2016 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.500 |
None |
1.000 |
14 |
1
|
2006 |
2017 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.500 |
None |
1.000 |
3 |
|
2007 |
2017 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.500 |
None |
1.000 |
2 |
|
2015 |
2016 |
Hyperalgesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
451
|
4
|
0.500 |
None |
1.000 |
1 |
|
2017 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
|
0 |
|
|
|
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.400 |
None |
0.986 |
70 |
5
|
1996 |
2019 |
Lipomatosis, Multiple Symmetrical
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
28
|
2
|
0.330 |
None |
0.667 |
3 |
1
|
2015 |
2019 |
HMSN Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mechanical Allodynia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
408
|
4
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperalgesia, Thermal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
154
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ventricular Remodeling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organ or Tissue Function
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cardiac Hypertrophy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
88
|
11
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Nodular glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperalgesia, Primary
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
84
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperalgesia, Secondary
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
88
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Allodynia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
84
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Tactile Allodynia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
114
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Left Ventricle Remodeling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organ or Tissue Function
|
21
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
27
|
7
|
0.300 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|