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 |
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
20
|
33
|
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 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
38
|
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 |
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 |
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 |
Thyroid Neoplasm
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
6
|
25
|
0.460 |
None |
1.000 |
6 |
6
|
1988 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
336
|
579
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2012 |
Poor respiratory effort
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2012 |
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
12
|
54
|
0.130 |
None |
1.000 |
4 |
6
|
1988 |
2016 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
31
|
216
|
0.200 |
None |
1.000 |
3 |
8
|
1985 |
2016 |
NOONAN SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
32
|
0.100 |
None |
1.000 |
2 |
2
|
1986 |
1991 |
Thymoma
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
2
|
9
|
0.140 |
None |
1.000 |
2 |
1
|
2009 |
2017 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
34
|
314
|
0.450 |
None |
1.000 |
2 |
7
|
1988 |
2016 |
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
18
|
114
|
0.120 |
None |
1.000 |
1 |
6
|
1994 |
2016 |
Serous cystadenocarcinoma ovary
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
99
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Facial wart
|
disease |
Neoplasms; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Transitional cell carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
26
|
141
|
0.110 |
None |
1.000 |
1 |
7
|
1998 |
2016 |
Uterine Carcinosarcoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
12
|
80
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |