Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory failure requiring assisted ventilation
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the liver
|
phenotype |
|
Finding
|
75
|
8
|
0.100 |
None |
|
0 |
|
|
|
BCHE, H VARIANT PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
BCHE, J VARIANT PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
BCHE, FLUORIDE 2 PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.100 |
None |
|
0 |
|
|
|
Postoperative Complications
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1967 |
1967 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
1979 |
1979 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
1979 |
1979 |
Leprosy
|
disease |
Infections
|
Disease or Syndrome
|
190
|
120
|
0.010 |
None |
1.000 |
1 |
|
1979 |
1979 |
Induced apnea
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Trismus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
2
|
0.300 |
None |
1.000 |
1 |
|
1980 |
1980 |
Lockjaw
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1980 |
1980 |
Masseter Muscle Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1980 |
1980 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Gestational trophoblastic disease
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
75
|
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Gestational Trophoblastic Neoplasms
|
group |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
98
|
7
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Psychological pseudocyesis
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Fasciculation, Tongue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
7
|
0.300 |
None |
1.000 |
1 |
|
1984 |
1984 |
Fasciculation, Benign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1984 |
1984 |
Fasciculation, Skeletal Muscle
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1984 |
1984 |