Maple syrup urine disease, type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
9
|
0.100 |
None |
1.000 |
13 |
9
|
1989 |
2016 |
Maple Syrup Urine Disease, Type IA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Gout attack
|
disease |
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Elevated plasma branched chain amino acids
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Classic Maple Syrup Urine Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intermittent Maple Syrup Urine Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.300 |
None |
|
0 |
|
|
|
Maple Syrup Urine Disease, Thiamine Responsive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.300 |
None |
|
0 |
|
|
|
Intermediate Maple Syrup Urine Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
|
0 |
|
|
|
Increased level of hippuric acid in urine
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Tophus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Acquired Abnormality
|
14
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Edema of foot (finding)
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Maple Syrup Urine Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
134
|
0.800 |
None |
1.000 |
47 |
44
|
1989 |
2019 |
Cerebral Edema
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Primary gout
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
5
|
0.060 |
None |
1.000 |
6 |
|
2016 |
2020 |
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Shigella Infections
|
group |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
121
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|