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 |
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 |
Foot pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
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, AXONAL, TYPE 2A2A
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.100 |
None |
|
0 |
4
|
|
|
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 |
|
|
|
Inability to walk by childhood/adolescence
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal atrophy
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Paresis of extensor muscles of the big toe
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spinal cord
|
group |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Knee reflex absent
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased laxity of ankles
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Charcot-Marie-Tooth disease, Type 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
3
|
0.100 |
None |
0.967 |
30 |
3
|
2006 |
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 |
Neuropathy ataxia and retinis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
Lipohypertrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Axonal degeneration/regeneration
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired temperature sensation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Axonal sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
9
|
2
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Hereditary peripheral neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Distal sensory impairment of all modalities
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Adenocarcinoma of salivary gland
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Arm Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
10
|
6
|
0.100 |
None |
|
0 |
|
|
|
Partial Paralysis (Paresis) Vocal Cords
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|