Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
9
|
0.710 |
None |
1.000 |
3 |
9
|
2014 |
2014 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.310 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Drug-Induced Acute Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
413
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Rachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Status Dysraphicus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hepatitis, Drug-Induced
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
418
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Strudwick syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
19
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.100 |
None |
0.941 |
17 |
|
2017 |
2019 |
Ischemic stroke
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1159
|
704
|
0.100 |
None |
1.000 |
11 |
|
2017 |
2020 |
Coronary Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1282
|
440
|
0.100 |
None |
1.000 |
10 |
|
2017 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.100 |
None |
|
0 |
|
|
|
Severe platyspondyly
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Limited elbow movement
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal widening
|
phenotype |
|
Finding
|
43
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|