Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2006 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.030 |
None |
0.667 |
3 |
|
2010 |
2015 |
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
None |
1.000 |
3 |
9
|
2010 |
2016 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.020 |
None |
1.000 |
2 |
|
1986 |
1995 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.020 |
None |
0.500 |
2 |
|
2010 |
2015 |
alpha^0^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1997 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Hematological Disease
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
255
|
16
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Sickle Cell Trait
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
75
|
16
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Homozygous alpha thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Hemoglobin H Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Spastic gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|