MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.710 |
strong |
1.000 |
1 |
4
|
2013 |
2013 |
Knobloch syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2011 |
Chorioretinal degeneration
|
disease |
Eye Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophy, Early Onset Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Carotid Artery Thrombosis
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bone Mineral Density Test
|
phenotype |
|
Diagnostic Procedure
|
54
|
314
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2014 |
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Fibroadenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
151
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hematological Disease
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
255
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cerebral Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
687
|
123
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
879
|
168
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |