Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
definitive |
1.000 |
10 |
|
1987 |
2014 |
Hypobetalipoproteinemia, Familial, Apolipoprotein B
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
4 |
|
1987 |
1995 |
Apolipoprotein B Assay
|
phenotype |
|
Laboratory Procedure
|
1
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Acanthocytosis With Hypobetalipoproteinemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
17
|
0.710 |
strong |
1.000 |
33 |
17
|
1989 |
2018 |
Fat intolerance
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Familial lipoprotein deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Scotopic sensitivity
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hypobetalipoproteinemia, Familial, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
7
|
0.200 |
None |
1.000 |
2 |
|
1996 |
1999 |
Steatocystoma multiplex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
3
|
4
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Low density lipoprotein receptor mutation
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Riboflavin Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
HEPATIC LIPASE DEFICIENCY (disorder)
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
4
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
HMG CoA lyase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
29
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Ischaemic cerebral infarction
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adult growth hormone deficiency
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
eyelids (symptom)
|
phenotype |
|
Sign or Symptom
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Abnormality of nervous system physiology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eye physiology
|
phenotype |
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral artery atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Myocardial steatosis
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal internal carotid artery morphology
|
disease |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Acanthocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2002 |
Familial LCAT deficiency
|
disease |
|
Disease or Syndrome
|
8
|
4
|
0.020 |
None |
0.500 |
2 |
1
|
2003 |
2018 |
Ruptured cerebral aneurysm
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Hyperfibrinogenemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |