Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Anisocoria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
7
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
2
|
|
|
Recurrent erosion of cornea
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
2
|
|
|
Pain in limb
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
16
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
2
|
|
|
Cochlear Diseases
|
group |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.230 |
None |
1.000 |
9 |
|
1990 |
2017 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Electron Transport Chain Deficiencies, Mitochondrial
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |