Deformity of spine
|
disease |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Short distal phalanx of toe
|
disease |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
8 |
1
|
2011 |
2018 |
Blepharophimosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
8
|
15
|
0.130 |
None |
1.000 |
1 |
2
|
2014 |
2016 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
35
|
47
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
34
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
5
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
29
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Genitopatellar Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
10
|
0.800 |
None |
1.000 |
3 |
10
|
2011 |
2019 |
Young Simpson syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
13
|
0.790 |
strong |
1.000 |
2 |
13
|
2011 |
2019 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
28
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
15
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
KBG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
46
|
0.100 |
None |
|
0 |
1
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
12
|
13
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
128
|
164
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
63
|
77
|
0.100 |
None |
|
0 |
1
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
14
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
88
|
106
|
0.100 |
None |
|
0 |
2
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
16
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
2
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
9
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Short nose
|
phenotype |
|
Finding
|
20
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
303
|
505
|
0.120 |
None |
1.000 |
1 |
1
|
2016 |
2017 |