Phospholipid measurement
|
phenotype |
|
Laboratory Procedure
|
58
|
306
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Villous atrophy
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Amphetamine-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
78
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Amphetamine Addiction
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
81
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Amphetamine Abuse
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
75
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microvillus inclusion disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
16
|
1.000 |
None |
0.958 |
24 |
15
|
2008 |
2019 |
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Bulbo-Spinal Atrophy, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
126
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
206
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.330 |
None |
1.000 |
4 |
1
|
2008 |
2017 |
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.320 |
None |
1.000 |
3 |
|
2017 |
2019 |
Intrahepatic Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
54
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intestinal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
209
|
13
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |