Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2017 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.020 |
None |
1.000 |
2 |
|
1990 |
2001 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
< 0.001 |
1 |
|
1998 |
1998 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
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 |
|
|
|
5q-syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
45
|
1
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2008 |
Chromosome 5, trisomy 5q
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
1
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2008 |
LEUKODYSTROPHY, HYPOMYELINATING, 9
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
strong |
1.000 |
3 |
8
|
2014 |
2017 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2008 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2015 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2020 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.410 |
None |
1.000 |
2 |
|
2014 |
2020 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2020 |
Thrombocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
93
|
12
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2010 |
Refractory anemia, without ringed sideroblasts, without excess blasts
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
38
|
2
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2015 |
Eosinophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
325
|
23
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Thrombocythemia, Essential
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
220
|
37
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
0.010 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Secondary acquired sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
spinal cord involvement
|
disease |
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Eosinophilic disorder
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
288
|
22
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Refractory cytopenia with multilineage dysplasia (RCMD)
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |