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 |
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 |
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, 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 |
|
|
|
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 |
|
|
|
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 |
|
|
|
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
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 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2014 |
2019 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
|
0 |
|
|
|
Elevated plasma branched chain amino acids
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
502
|
80
|
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 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Increased level of hippuric acid in urine
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|