Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.300 |
strong |
|
0 |
|
|
|
Myoclonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
123
|
3
|
0.300 |
strong |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Glutaric aciduria
|
phenotype |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Tonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
108
|
|
0.300 |
strong |
|
0 |
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.300 |
strong |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Inspiratory stridor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
Adult onset asthma
|
disease |
|
Disease or Syndrome
|
48
|
67
|
0.100 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
Childhood asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
303
|
317
|
0.100 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Respiratory Tract Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
198
|
109
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Combined D-2- and L-2-hydroxyglutaric aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
14
|
0.660 |
strong |
1.000 |
7 |
2
|
2005 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
6 |
2
|
2016 |
2019 |
Allergic Reaction
|
phenotype |
Immune System Diseases
|
Pathologic Function
|
197
|
1019
|
0.100 |
None |
1.000 |
3 |
2
|
2016 |
2018 |
D-2-hydroxyglutaric aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
6
|
0.150 |
None |
1.000 |
5 |
4
|
2005 |
2019 |
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
disease |
|
Disease or Syndrome
|
4
|
15
|
0.740 |
None |
1.000 |
8 |
10
|
2005 |
2019 |