Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.400 |
limited |
1.000 |
1 |
1
|
2019 |
2019 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
12
|
0.300 |
limited |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
AUTISM, SUSCEPTIBILITY TO, 15
|
disease |
|
Finding
|
9
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of nervous system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Anatomical Abnormality
|
13
|
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Hearing abnormality
|
disease |
|
Finding
|
24
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.300 |
limited |
1.000 |
1 |
|
2019 |
2019 |
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.300 |
limited |
1.000 |
1 |
|
2019 |
2019 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.110 |
None |
1.000 |
2 |
1
|
2010 |
2012 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Creatinine measurement, serum (procedure)
|
phenotype |
|
Laboratory Procedure
|
124
|
243
|
0.100 |
None |
1.000 |
2 |
1
|
2010 |
2016 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
1
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.100 |
None |
|
0 |
1
|
|
|