Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
1
|
|
|
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.100 |
None |
|
0 |
|
|
|
Anorexia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
242
|
10
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal globus pallidus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
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 |
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Metabolic Ketosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
1.000 |
1 |
|
1997 |
1997 |
VITAMIN B12 MEASUREMENT
|
phenotype |
|
Laboratory Procedure
|
13
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
cervical cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1817
|
268
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cataract, total congenital with posterior sutural opacities in Heterozygotes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |