Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2002 |
2017 |
Papilloma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
2
|
0.500 |
None |
0.909 |
9 |
1
|
1992 |
2017 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
22
|
24
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
9
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
12
|
12
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Deep palmar crease
|
phenotype |
|
Finding
|
7
|
8
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
20
|
33
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
468
|
0.120 |
None |
1.000 |
9 |
1
|
2005 |
2017 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
13
|
82
|
0.180 |
None |
1.000 |
9 |
1
|
1982 |
2014 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
38
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Poor respiratory effort
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2012 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
336
|
579
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2012 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
153
|
0.640 |
|
1.000 |
3 |
1
|
2006 |
2018 |
Thymoma
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
2
|
9
|
0.140 |
None |
1.000 |
2 |
1
|
2009 |
2017 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
25
|
129
|
0.800 |
None |
1.000 |
1 |
1
|
1984 |
2018 |
Cardiomyopathies, Primary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Facial wart
|
disease |
Neoplasms; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
303
|
505
|
0.120 |
None |
1.000 |
1 |
1
|
2005 |
2017 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2
|
7
|
0.700 |
None |
1.000 |
1 |
1
|
1983 |
2018 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
21
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Short neck
|
phenotype |
|
Finding
|
26
|
29
|
0.100 |
None |
|
0 |
1
|
|
|