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 |
|
2014 |
2014 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
46,XY SEX REVERSAL 9
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.700 |
moderate |
1.000 |
2 |
3
|
2014 |
2015 |
Abnormal nasal morphology
|
disease |
|
Anatomical Abnormality
|
34
|
|
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
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
|
|
|
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2020 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Amebiasis
|
disease |
Infections
|
Disease or Syndrome
|
37
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Amebic colitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
49
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Aplasia/Hypoplasia of the diaphragm
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.100 |
None |
|
0 |
|
|
|
Barakat syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
17
|
9
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Birth Weight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organism Attribute
|
214
|
369
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
2 |
4
|
2018 |
2018 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |