Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
73
|
11
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
|
|
|
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Chronic fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating aldosterone level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating cortisol level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
23
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Renal salt wasting
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic abdominal pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating ACTH level
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of circulating adrenocorticotropin level
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cortisol response to insulin stimulation test
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating dehydroepiandrosterone level
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aarskog syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
24
|
0.100 |
None |
0.935 |
31 |
4
|
1994 |
2019 |
Familial glucocorticoid deficiency
|
disease |
|
Disease or Syndrome
|
9
|
4
|
0.100 |
None |
0.957 |
23 |
2
|
1993 |
2018 |
Familial Glucocorticoid Deficiency Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
12
|
18
|
0.700 |
None |
0.944 |
18 |
15
|
1993 |
2019 |
Glucocorticoid deficiency with achalasia
|
disease |
Digestive System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
17
|
20
|
0.090 |
None |
0.778 |
9 |
|
1995 |
2008 |
Adrenocortical carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
281
|
46
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2004 |
Conn Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
107
|
5
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2017 |