Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperphagia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
3
|
0.100 |
None |
|
0 |
|
|
|
Polyuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Fanconi-Bickel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
15
|
17
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Lipoid nephrosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Reactive hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Postinfarction
|
disease |
|
Disease or Syndrome
|
49
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Inappropriate ADH Syndrome
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Chronic heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
223
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bladder neck obstruction
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
67
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Solar urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Metabolism and nutrition disorders
|
group |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Eczematous drug eruption
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypouricemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dermatitis, Phototoxic
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
89
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Decompensated cardiac failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Left Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
403
|
67
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |