46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ovarian gonadoblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the labia
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Cold Hypersensitivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Testicular gonadoblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the scrotum
|
disease |
|
Anatomical Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sex determination
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of vagina
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Female external genitalia in individual with 46,XY karyotype
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Urogenital sinus anomaly
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Familial cold urticaria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
6
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Streak ovary
|
disease |
|
Congenital Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Primary gonadal insufficiency
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased fertility in females
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating luteinizing hormone level
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating follicle stimulating hormone level
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Low serum estradiol levels
|
phenotype |
|
Finding
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.100 |
None |
|
0 |
|
|
|
Sparse axillary hair
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse pubic hair
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased serum testosterone level
|
phenotype |
|
Finding
|
47
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophy of clitoris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
63
|
2
|
0.100 |
None |
|
0 |
|
|
|
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|