Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|
Frontal balding
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the adrenal glands
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Oral cleft
|
disease |
|
Congenital Abnormality
|
85
|
28
|
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 |
|
|
|
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ovary
|
disease |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Sex reversal
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the fallopian tube
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum testosterone level
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ovotestis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
High anterior hairline
|
phenotype |
|
Finding
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bilateral lung agenesis
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
88
|
17
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.060 |
None |
1.000 |
6 |
|
1994 |
2018 |
Fibroadenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
151
|
1
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
46, XY female
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.310 |
None |
1.000 |
2 |
|
2002 |
2019 |