Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.020 |
None |
0.500 |
2 |
|
2014 |
2020 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
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 |
|
1992 |
1992 |
Lenticonus
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Anterior lenticonus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
3
|
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
strong |
|
0 |
|
|
|
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.700 |
definitive |
0.977 |
130 |
310
|
1990 |
2020 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.600 |
strong |
0.960 |
75 |
3
|
1992 |
2020 |
ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
2
|
450
|
0.900 |
strong |
1.000 |
64 |
450
|
1991 |
2017 |
X-linked hydrocephalus syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
24
|
0.100 |
None |
1.000 |
17 |
2
|
1998 |
2020 |
Hereditary nephritis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
9
|
1
|
0.100 |
None |
1.000 |
16 |
1
|
1996 |
2015 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
0.933 |
15 |
1
|
1992 |
2019 |
Andersen Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
38
|
0.100 |
None |
0.900 |
10 |
1
|
2005 |
2019 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.480 |
strong |
1.000 |
9 |
3
|
2001 |
2019 |
Thin basement membrane disease
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
12
|
9
|
0.060 |
None |
1.000 |
6 |
1
|
2011 |
2016 |
ARTERIAL TORTUOSITY SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
23
|
0.060 |
None |
1.000 |
6 |
1
|
2006 |
2016 |
Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
296
|
40
|
0.150 |
None |
1.000 |
5 |
2
|
1990 |
1997 |
Hematuria, Benign Familial
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
22
|
0.340 |
strong |
1.000 |
5 |
1
|
2003 |
2014 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2019 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.040 |
None |
1.000 |
4 |
2
|
2003 |
2017 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.440 |
strong |
1.000 |
4 |
1
|
2011 |
2018 |
Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
391
|
7
|
0.030 |
None |
1.000 |
3 |
|
1992 |
2011 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.030 |
None |
1.000 |
3 |
2
|
1992 |
2017 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.030 |
None |
1.000 |
3 |
1
|
1993 |
2010 |
Familial hematuria
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.130 |
None |
1.000 |
3 |
2
|
2005 |
2017 |