Amyloidosis, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
12
|
0.080 |
None |
1.000 |
8 |
|
1999 |
2018 |
Fish-Eye Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
22
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2011 |
Hypoalphalipoproteinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
7
|
0.100 |
None |
0.938 |
16 |
1
|
1986 |
2018 |
Hypobetalipoproteinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
11
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Amyloid nephropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
20
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Xanthomatosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
10
|
0.100 |
None |
|
0 |
|
|
|
Systemic amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
10
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2009 |
Cholesteryl Ester Transfer Protein Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
5
|
0.070 |
None |
1.000 |
7 |
|
1990 |
2018 |
Familial hypercholesterolemia - homozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
72
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Nuchal bleb, familial
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
24
|
9
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2014 |
Hypoproteinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
4
|
0.200 |
None |
1.000 |
1 |
|
1990 |
1990 |
Morbilliform Drug Reaction
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperlipoproteinemia Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
16
|
0.020 |
None |
1.000 |
2 |
|
1978 |
1996 |
Congenital absence of liver
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pyloric Stenosis, Hypertrophic
|
disease |
Digestive System Diseases
|
Congenital Abnormality
|
26
|
306
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Blurred Vision, CTCAE
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Primary Systemic Amyloidosis
|
disease |
Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases
|
Neoplastic Process
|
27
|
10
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2011 |
Hyperlipoproteinemia Type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
24
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Analgesic Overuse Headache
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blurred vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Autonomic neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Tangier Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
28
|
0.100 |
None |
1.000 |
13 |
|
1978 |
2016 |
Anoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Senile cardiac amyloidosis
|
disease |
Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
33
|
19
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |