Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
30
|
14
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
22
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Peutz-Jeghers Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
79
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Multiple polyps
|
disease |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
77
|
32
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
High-Risk Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
99
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dystrophia myotonica 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
21
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
hiv-infection/aids
|
disease |
Infections
|
Disease or Syndrome
|
124
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Infectious Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
146
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Ascites
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
198
|
7
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Lymphoid leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
288
|
4
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.020 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Myeloproliferative disease
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
365
|
43
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Miscarriage
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
426
|
56
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Adenoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
452
|
213
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Adenomatous Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
609
|
237
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
634
|
43
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |