Vomiting
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
303
23
0.100
None
0
Ulcerative Colitis
disease
Digestive System Diseases
Disease or Syndrome
1458
827
0.010
None
1.000
1
2017
2017
Trichohepatoenteric Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
Disease or Syndrome
424
28
0.010
None
1.000
1
2019
2019
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
Shigella Infections
group
Digestive System Diseases; Infections
Disease or Syndrome
121
0.010
None
1.000
1
2018
2018
Septicemia
disease
Pathological Conditions, Signs and Symptoms; Infections
Disease or Syndrome
1285
141
0.010
None
1.000
1
2019
2019
Sepsis
disease
Pathological Conditions, Signs and Symptoms; Infections
Disease or Syndrome
1453
144
0.010
None
1.000
1
2019
2019
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Red cell distribution width determination
phenotype
Laboratory Procedure
593
988
0.100
None
1.000
1
1
2019
2019
RDW - Red blood cell distribution width result
phenotype
Laboratory or Test Result
593
988
0.100
None
1.000
1
1
2019
2019
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
Pancreatitis
disease
Digestive System Diseases
Disease or Syndrome
502
80
0.100
None
0
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.010
None
1.000
1
2020
2020
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Muscle Hypertonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
197
21
0.100
None
0
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, 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, 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
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
phenotype
Finding
1
2
0.100
None
0
2
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
Lethargy
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Sign or Symptom
160
6
0.100
None
0
Ketosis
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
119
11
0.100
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
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