Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.700 |
definitive |
1.000 |
25 |
|
2007 |
2020 |
CORNELIA DE LANGE SYNDROME 4
|
disease |
|
Disease or Syndrome
|
6
|
11
|
0.610 |
None |
1.000 |
6 |
11
|
2012 |
2019 |
MUNGAN SYNDROME
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
15
|
6
|
0.600 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.310 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.310 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Monocytic, Chronic
|
disease |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Myeloid Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
7
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Leukemia, Megakaryoblastic, of Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Carcinoma in situ of endometrium
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
18
|
|
0.300 |
None |
|
0 |
|
|
|
Cornelia de Lange Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
266
|
0.300 |
None |
|
0 |
|
|
|
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.300 |
None |
|
0 |
|
|
|
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.300 |
None |
|
0 |
|
|
|
Adenocarcinoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
543
|
432
|
0.300 |
None |
|
0 |
|
|
|
Congenital muscular hypertrophy-cerebral syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
50
|
0.300 |
None |
|
0 |
|
|
|
Lung Neoplasms
|
group |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1486
|
39
|
0.300 |
None |
|
0 |
|
|
|
Cornelia de Lange Syndrome 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.300 |
None |
|
0 |
|
|
|
Malignant neoplasm of endometrium
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1235
|
197
|
0.300 |
None |
|
0 |
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |