EPILEPSY, PYRIDOXINE-DEPENDENT
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
26
|
0.800 |
definitive |
1.000 |
57 |
26
|
2006 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.140 |
None |
1.000 |
11 |
6
|
2006 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.120 |
None |
1.000 |
3 |
2
|
2010 |
2018 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
2
|
|
|
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2013 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2013 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2013 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.040 |
None |
1.000 |
4 |
1
|
2014 |
2019 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Calcification of coronary artery
|
phenotype |
Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Pathologic Function
|
51
|
205
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Lymphocyte Count measurement
|
phenotype |
|
Laboratory Procedure
|
338
|
456
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.110 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Osteoporotic Fractures
|
group |
Wounds and Injuries
|
Disease or Syndrome
|
108
|
40
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Convulsions in the newborn
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
17
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.060 |
None |
1.000 |
6 |
|
2009 |
2019 |
Pigment dispersion syndrome (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
18
|
3
|
0.050 |
None |
1.000 |
5 |
|
2006 |
2011 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.050 |
None |
1.000 |
5 |
|
2016 |
2019 |
Pendred's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
142
|
0.050 |
None |
1.000 |
5 |
|
2006 |
2011 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.030 |
None |
0.667 |
3 |
|
2006 |
2015 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.030 |
None |
0.667 |
3 |
|
2008 |
2019 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.030 |
None |
1.000 |
3 |
|
1993 |
1998 |
Erectile dysfunction
|
disease |
Male Urogenital Diseases; Mental Disorders
|
Disease or Syndrome
|
256
|
44
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |