46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Abnormal sex determination
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the labia
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the scrotum
|
disease |
|
Anatomical Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.100 |
None |
|
0 |
|
|
|
Adult Germ Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Childhood Germ Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Decreased fertility in females
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased serum testosterone level
|
phenotype |
|
Finding
|
47
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating follicle stimulating hormone level
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating luteinizing hormone level
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Female external genitalia in individual with 46,XY karyotype
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Germ cell tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
278
|
5
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
|
|
|
Gonadoblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
34
|
2
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2010 |
Gynecomastia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
121
|
8
|
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 |
|
|
|