Inherited Peripheral Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.020 |
None |
1.000 |
2 |
|
1992 |
1998 |
Hereditary Motor and Sensory Neuropathy Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
84
|
0.020 |
None |
1.000 |
2 |
|
1992 |
1999 |
Distal Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
8
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
15
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Charcot-Marie-Tooth disease, Type 2B2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Peroneal muscle atrophy
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Congenital hypomyelinating neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
10
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
|
disease |
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Charcot-Marie-Tooth disease, Type 2I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
14
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
16
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Spastic paraplegia 17
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
12
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.030 |
None |
1.000 |
3 |
|
1992 |
2009 |
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.030 |
None |
1.000 |
3 |
2
|
1997 |
2010 |
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
HMSN Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Charcot-Marie-Tooth disease, Type 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
3
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2011 |
Partial Paralysis (Paresis) Vocal Cords
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |