Antley-Bixler Syndrome with Disordered Steroidogenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
10
|
0.740 |
strong |
1.000 |
17 |
9
|
2004 |
2018 |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
strong |
1.000 |
5 |
9
|
2002 |
2006 |
Congenital adrenal hyperplasia
|
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
|
87
|
36
|
0.460 |
None |
0.857 |
7 |
1
|
2004 |
2016 |
Antley-Bixler Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
9
|
13
|
0.350 |
None |
1.000 |
9 |
2
|
2004 |
2016 |
Antley-Bixler Syndrome Phenotype
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.320 |
None |
1.000 |
6 |
|
2004 |
2016 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2113
|
316
|
0.310 |
None |
1.000 |
2 |
3
|
1996 |
2018 |
Learning Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
46
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Adult Learning Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Learning Disturbance
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Learning Disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
103
|
5
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Developmental Academic Disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Finding
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Neoplastic Cell Transformation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
143
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
gliosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
80
|
5
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2130
|
281
|
0.300 |
None |
1.000 |
1 |
3
|
1996 |
1996 |
Postpartum Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.130 |
None |
1.000 |
3 |
|
2005 |
2018 |
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
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2009 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.100 |
None |
1.000 |
36 |
|
2017 |
2020 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cloverleaf skull
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Ectopic adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|