46, XX Disorders of Sex Development
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
46, XX Testicular Disorders of Sex Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
11
|
1
|
0.310 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
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
|
0.400 |
None |
1.000 |
38 |
3
|
2007 |
2019 |
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
|
0.050 |
None |
1.000 |
5 |
|
2007 |
2014 |
46,XX SEX REVERSAL 4
|
disease |
|
Congenital Abnormality
|
3
|
2
|
0.400 |
None |
1.000 |
4 |
2
|
2016 |
2017 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
11
|
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2016 |
46,XY Sex Reversal 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
3
|
20
|
0.700 |
None |
1.000 |
17 |
20
|
1999 |
2017 |
Abnormal scrotal rugation
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
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 male internal genitalia
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the adrenal glands
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
|
|
Accessory spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
41
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Addison Disease
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
111
|
13
|
0.040 |
None |
1.000 |
4 |
1
|
2001 |
2020 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2008 |
Adrenal Cortical Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
156
|
9
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adrenal cortical hypofunction
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
52
|
5
|
0.400 |
moderate |
0.938 |
16 |
1
|
2000 |
2019 |
Adrenal Gland Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.500 |
None |
1.000 |
20 |
3
|
1999 |
2019 |
Adrenal Gland Neoplasms
|
group |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
94
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ADRENAL INSUFFICIENCY, NR5A1-RELATED
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|