Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Death in childhood
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal urine alpha-ketoglutarate concentration
|
disease |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of Krebs cycle metabolism
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.600 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
33
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Hyperphenylalaninaemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
38
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hepatitis, Drug-Induced
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
418
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Drug-Induced Acute Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
413
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |