Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.040 |
None |
1.000 |
4 |
1
|
2012 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Nonketotic Hyperglycinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
182
|
1.000 |
definitive |
0.982 |
56 |
136
|
1990 |
2020 |
Hyperglycinemia, Nonketotic, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
3 |
|
2006 |
2007 |
Hyperglycinemia, Nonketotic, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
3 |
|
2006 |
2007 |
Hyperglycinemia, Nonketotic, Type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
3 |
|
2006 |
2007 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.110 |
None |
1.000 |
2 |
1
|
2000 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Epilepsy, Generalized
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
93
|
36
|
0.100 |
None |
1.000 |
1 |
1
|
2000 |
2000 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Hyperglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1098
|
108
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Influenza
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
858
|
17
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progressive supranuclear palsy
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
176
|
52
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Virus Diseases
|
group |
Infections
|
Disease or Syndrome
|
1471
|
42
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Chromosome 9, partial trisomy 9p
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Hyperglycinemia, Transient Neonatal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CHROMOSOME 9p DELETION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Deuteranomaly
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
92
|
10
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |