Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Acidosis, Respiratory
|
phenotype |
Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
13
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Alkalosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Autosomal Recessive Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
3
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bicarbonate-wasting renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2014 |
Bilateral glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.440 |
None |
1.000 |
5 |
|
2001 |
2014 |
Child Development Deviations
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Child Development Disorders, Specific
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
30
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Childhood asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
303
|
317
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2346
|
222
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Corneal calcification
|
phenotype |
|
Anatomical Abnormality
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Corneal Dystrophy, Band-Shaped
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
7
|
3
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2018 |
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Distal Renal Tubular Acidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
18
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Familial Hemiplegic Migraine
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
24
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.430 |
None |
1.000 |
4 |
|
2004 |
2018 |