Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
PITT-HOPKINS SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
9
|
58
|
1.000 |
definitive |
1.000 |
52 |
58
|
2007 |
2019 |
Fuchs Endothelial Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
94
|
32
|
0.500 |
None |
1.000 |
49 |
4
|
2010 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
22 |
1
|
2007 |
2017 |
Pallister-Hall syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
39
|
0.050 |
None |
0.800 |
5 |
|
2007 |
2008 |
Fleck corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
104
|
12
|
0.050 |
None |
1.000 |
5 |
2
|
2010 |
2014 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2018 |
Corneal dystrophy, Fuchs' endothelial, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
7
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2013 |
Corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
113
|
25
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2018 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2010 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2019 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2020 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2014 |
Fish-Eye Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
22
|
0.030 |
None |
1.000 |
3 |
2
|
2012 |
2015 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Primary sclerosing cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
264
|
58
|
0.320 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2015 |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.610 |
strong |
1.000 |
2 |
2
|
2011 |
2015 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
CNS disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
319
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cholangitis, Sclerosing
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
188
|
276
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |