Hydroxykynureninuria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.710 |
strong |
1.000 |
2 |
1
|
2007 |
2017 |
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
strong |
1.000 |
1 |
3
|
2017 |
2017 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.310 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Inflammation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
467
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Degenerative Diseases, Central Nervous System
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Degenerative Diseases, Spinal Cord
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.210 |
None |
0.500 |
2 |
1
|
2002 |
2011 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
3 |
3
|
2018 |
2019 |
Defect of vertebral segmentation
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
6
|
0.100 |
None |
1.000 |
1 |
3
|
2017 |
2017 |
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
96
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Thoracic hemivertebra
|
disease |
|
Congenital Abnormality
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Hypoplastic Left Heart Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
52
|
7
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
85
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |