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 |
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
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 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
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 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
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 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Abnormal salivary gland morphology
|
phenotype |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Congenital lactic acidosis
|
disease |
Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of Krebs cycle metabolism
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal urine alpha-ketoglutarate concentration
|
disease |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|