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
|
0.310 |
None |
1.000 |
2 |
|
2001 |
2008 |
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
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Aarskog syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
24
|
0.020 |
None |
0.500 |
2 |
|
2015 |
2019 |
Abnormal urine potassium concentration
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the Leydig cells
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Addison Disease
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
111
|
13
|
0.020 |
None |
1.000 |
2 |
1
|
2019 |
2020 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Adrenal calcification
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Adrenal Cortical Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
156
|
9
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2008 |
Adrenal cortical hypofunction
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
52
|
5
|
0.060 |
None |
1.000 |
6 |
3
|
2006 |
2019 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.460 |
None |
1.000 |
7 |
3
|
2001 |
2019 |
Adrenal hypoplasia
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Adrenal Insufficiency, Congenital
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
2002 |
2017 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
|
disease |
|
Disease or Syndrome
|
2
|
8
|
0.720 |
strong |
1.000 |
8 |
8
|
2001 |
2017 |
Adrenocortical carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
281
|
46
|
0.010 |
None |
< 0.001 |
1 |
|
1997 |
1997 |
Adrenocorticotropic hormone excess
|
phenotype |
Nervous System Diseases; Endocrine System Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Ambiguous genitalia, male
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anovulatory (finding)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
55
|
8
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |