Malrotation of kidney
|
disease |
|
Congenital Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.100 |
None |
|
0 |
|
|
|
Bicornuate uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Stenosis of duodenum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Abnormal spleen morphology
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Right aortic arch with mirror image branching
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the pancreas
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral lung agenesis
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Single Ventricle Defect
|
disease |
|
Congenital Abnormality
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of pulmonary vessels
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic left atrium
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic spleen
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Bilateral microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Multilobulated spleen
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Annular pancreas
|
disease |
Digestive System Diseases
|
Congenital Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|