Gonadal Dysgenesis, 46,XY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
1
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2020 |
Gonadal Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
53
|
6
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Testicular regression syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
37
|
3
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
DERMATITIS HERPETIFORMIS, FAMILIAL
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Triple Negative Breast Neoplasms
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1674
|
99
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Triple-Negative Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1598
|
96
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
2
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Chronic granulomatous disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
105
|
23
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
46, XY Disorders of Sex Development
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
10
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |