Renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
52
|
3
|
0.540 |
None |
1.000 |
5 |
|
2000 |
2011 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.440 |
None |
1.000 |
5 |
|
2001 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.140 |
None |
1.000 |
4 |
|
2001 |
2018 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.430 |
None |
1.000 |
4 |
|
2004 |
2018 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2014 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
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 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2004 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.210 |
None |
1.000 |
2 |
|
2004 |
2015 |
Bilateral glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Metabolic alkalosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
27
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
|
2004 |
2004 |
Autosomal Recessive Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
3
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
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 |
Familial Hemiplegic Migraine
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
24
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
Potassium depletion
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Pseudoaphakia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Metabolic Syndrome X
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1125
|
591
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
Primary congenital glaucoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
25
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Post MI
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
203
|
4
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |