Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.100 |
None |
|
0 |
|
|
|
Alloxan Diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
112
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Streptozotocin Diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
112
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Alveolar rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
115
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Sudden Cardiac Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
133
|
40
|
0.100 |
None |
|
0 |
|
|
|
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Sudden infant death syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
140
|
68
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Cooley's anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
144
|
19
|
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 |
|
|
|
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Niemann-Pick Disease, Type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
201
|
33
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Pseudohyperkalemia Cardiff
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
218
|
60
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.100 |
None |
|
0 |
|
|
|
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |