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 |
|
2012 |
2012 |
Abnormal sex determination
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Adrenal Cortical Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
156
|
9
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Adrenal Cushing's syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
120
|
9
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Adrenal hyperplasia, congenital, type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
7
|
27
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
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 |
|
|
|
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 |
|
|
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital Methemoglobinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
8
|
0.320 |
None |
1.000 |
2 |
|
1992 |
1994 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
16
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Conn Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
107
|
5
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
CONSTRICTING BANDS, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
16
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2004 |
2004 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Cushing Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
126
|
9
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|