Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
1.000 |
definitive |
0.979 |
189 |
28
|
1962 |
2019 |
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
13
|
1.000 |
None |
1.000 |
35 |
13
|
1962 |
2017 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
None |
1.000 |
1 |
|
2000 |
2000 |
Pelizaeus-Merzbacher Disease, Atypical
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.350 |
None |
0.750 |
6 |
1
|
2004 |
2010 |
Cocaine Abuse
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
144
|
3
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2009 |
Experimental Autoimmune Encephalomyelitis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Experimental Model of Disease
|
97
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cockayne-Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Pelizaeus-Merzbacher Disease, Transitional
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Classic Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Increased susceptibility to schizophrenia
|
phenotype |
|
Finding
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Adult Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.300 |
moderate |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.230 |
None |
1.000 |
7 |
|
1998 |
2018 |
Demyelinating Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
5
|
0.220 |
None |
1.000 |
3 |
|
1989 |
2017 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
2 |
|
1979 |
1989 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.140 |
None |
1.000 |
4 |
|
2000 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.140 |
None |
1.000 |
4 |
|
2002 |
2020 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.140 |
None |
1.000 |
4 |
|
1998 |
2019 |
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
1.000 |
25 |
|
2001 |
2020 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.100 |
None |
1.000 |
14 |
|
1999 |
2020 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
1
|
1989 |
2016 |