Occipital myelomeningocele
|
disease |
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Multiple suture craniosynostosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the tonsils
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic arch
|
disease |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small earlobe
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
CONOTRUNCAL ANOMALY FACE SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Platybasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Tricuspid Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Impaired T cell function
|
phenotype |
|
Cell or Molecular Dysfunction
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive crisis
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal arteriolar tortuosity
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pharynx
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Tetany
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Asymmetric crying face association
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormal lung lobation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Arhinencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Uterine Anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Seborrheic dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the thorax
|
disease |
|
Anatomical Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Posterior embryotoxon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|