Ascites
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
198
|
7
|
0.100 |
None |
|
0 |
|
|
|
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.100 |
None |
|
0 |
|
|
|
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.100 |
None |
|
0 |
|
|
|
Vaginal Neoplasms
|
group |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.100 |
None |
|
0 |
|
|
|
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.050 |
None |
1.000 |
5 |
|
2001 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2011 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
definitive |
1.000 |
11 |
3
|
2002 |
2019 |
Mosaic variegated aneuploidy syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
10
|
20
|
0.640 |
None |
1.000 |
5 |
2
|
2011 |
2019 |
Mosaic variegated aneuploidy syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
5
|
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2019 |