Macrothrombocytopenia-Stomatocytosis, Mediterranean
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
2000 |
2001 |
Tuberous xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Episodic hemolytic anemia
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Lipid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Premature arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Precocious atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Polygenic hypercholesterolemia
|
disease |
|
Disease or Syndrome
|
10
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Giant platelet (morphologic abnormality)
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Giant Platelet Count (procedure)
|
phenotype |
|
Laboratory Procedure
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Sitosterolemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
11
|
20
|
0.800 |
None |
0.976 |
41 |
7
|
2000 |
2020 |
Iron measurement
|
phenotype |
|
Laboratory Procedure
|
12
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Iron level result
|
phenotype |
|
Laboratory or Test Result
|
12
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Renal steatosis
|
disease |
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Stomatocytosis Result
|
phenotype |
|
Laboratory or Test Result
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
stomatocytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Xanthoma tendinosum
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
22
|
0.100 |
None |
|
0 |
|
|
|
Chronic hemolytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
5
|
0.100 |
None |
|
0 |
|
|
|
Impaired platelet aggregation
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Eyelid Xanthoma
|
disease |
Nutritional and Metabolic Diseases; Eye Diseases
|
Disease or Syndrome
|
19
|
32
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Xanthomatosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
10
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |