Renal dysplasia and retinal aplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.530 |
strong |
1.000 |
4 |
|
2002 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2005 |
Hydrocephalus, Normal Pressure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
6
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2005 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2011 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2014 |
Arima syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2014 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
NEPHRONOPHTHISIS 2
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
7
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
NEPHRONOPHTHISIS 3
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
15
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Situs ambiguus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
55
|
9
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped epiphysis
|
phenotype |
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Renal corticomedullary cysts
|
disease |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Tubulointerstitial fibrosis
|
phenotype |
|
Disease or Syndrome
|
328
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Nephronophthisis type 4
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Abnormality of bone mineral density
|
disease |
|
Anatomical Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tubular Atrophy Assessment
|
phenotype |
|
Diagnostic Procedure
|
17
|
|
0.100 |
None |
|
0 |
|
|
|