Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal prolactin level
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of secondary sexual hair
|
disease |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Acromegaly
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
138
|
25
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
ACTH Deficiency, Isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
11
|
11
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.100 |
None |
1.000 |
23 |
|
1993 |
2019 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
24
|
1
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2005 |
Adult Craniopharyngioma
|
disease |
Neoplasms
|
Neoplastic Process
|
38
|
6
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anaplastic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
202
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Anterior pituitary agenesis
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior pituitary hypoplasia
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Anti-PIT-1 Antibody Syndrome
|
disease |
Immune System Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Aortic valve disorder
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
58
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Aplasia/Hypoplasia of the breasts
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2020 |
Autoimmune Polyglandular Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Breast adenocarcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
219
|
7
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2014 |