Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.350 |
strong |
1.000 |
6 |
1
|
2000 |
2012 |
Keloid
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
165
|
15
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Abnormal platelet shape
|
disease |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal thrombosis
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hip circumference
|
phenotype |
|
Clinical Attribute
|
68
|
116
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2010 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Capillary malformation (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
SEBASTIAN SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
13
|
1.000 |
definitive |
0.984 |
61 |
13
|
1998 |
2019 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.200 |
None |
0.957 |
46 |
3
|
2002 |
2020 |
May-Hegglin anomaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
19
|
1.000 |
definitive |
1.000 |
44 |
17
|
1998 |
2020 |
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.100 |
None |
0.962 |
26 |
2
|
2001 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.400 |
None |
0.952 |
21 |
5
|
2008 |
2015 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.200 |
None |
1.000 |
21 |
1
|
2005 |
2020 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.400 |
None |
0.950 |
20 |
|
2003 |
2012 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
0.950 |
20 |
5
|
2008 |
2015 |
Fechtner syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.570 |
definitive |
1.000 |
18 |
2
|
1998 |
2015 |
Epstein syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.560 |
definitive |
1.000 |
17 |
1
|
1998 |
2019 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.100 |
None |
0.882 |
17 |
3
|
2009 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
11 |
2
|
2008 |
2016 |
Other primary thrombocytopenia
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.500 |
definitive |
1.000 |
11 |
|
1998 |
2015 |
Giant Platelet Syndrome with Thrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
definitive |
1.000 |
11 |
|
1998 |
2015 |
DEAFNESS, AUTOSOMAL DOMINANT 17
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.710 |
None |
1.000 |
11 |
2
|
1998 |
2016 |