Renal salt wasting
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating cortisol level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
23
|
2
|
0.100 |
None |
|
0 |
|
|
|
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperkalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thyrotoxicosis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
37
|
7
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Episodic abdominal pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
39
|
3
|
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
|
0.040 |
None |
0.750 |
4 |
|
2014 |
2019 |
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.100 |
None |
0.935 |
31 |
7
|
1992 |
2018 |
Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cardiac defects
|
group |
|
Disease or Syndrome
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Spindle cell hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
68
|
10
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
73
|
11
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Kashin-Beck Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
43
|
0.040 |
None |
0.500 |
4 |
3
|
2013 |
2019 |
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
|
|
|
Familial dilated cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
47
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Temporomandibular Joint Disorders
|
group |
Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
84
|
25
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Primary angle-closure glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
87
|
55
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Age-related cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
92
|
15
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Angle Closure Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
94
|
56
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Exfoliation Syndrome
|
disease |
Eye Diseases
|
Disease or Syndrome
|
94
|
74
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.100 |
None |
|
0 |
|
|
|
Osteoarthrosis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
96
|
1
|
0.010 |
None |
< 0.001 |
1 |
1
|
2019 |
2019 |
AIDS related complex
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
100
|
43
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |