Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Williams Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
104
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Metastatic melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
504
|
42
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Roberts-SC phocomelia syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
28
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Invasive Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Advanced Melanoma
|
disease |
|
Neoplastic Process
|
73
|
5
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Placental Malformation
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the cochlea
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Cutis marmorata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
80
|
9
|
0.100 |
None |
|
0 |
|
|
|