Cystic Kidney Disease with Ventriculomegaly
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
3 |
4
|
2015 |
2019 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
2 |
5
|
2015 |
2018 |
LEBER CONGENITAL AMAUROSIS 8
|
disease |
|
Disease or Syndrome
|
2
|
42
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital stenosis of aqueduct of Sylvius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Renal corticomedullary cysts
|
disease |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Finnish congenital nephrotic syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
178
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hyalinosis, Segmental Glomerular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
|
0 |
|
|
|
Nephrosis, congenital
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
9
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2018 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
53
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
RETINITIS PIGMENTOSA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
32
|
21
|
0.200 |
None |
|
0 |
|
|
|
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
42
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Steroid-resistant nephrotic syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
73
|
25
|
0.150 |
None |
1.000 |
5 |
2
|
2015 |
2018 |
Steroid resistant nephrotic syndrome of childhood
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
73
|
19
|
0.050 |
None |
1.000 |
5 |
1
|
2015 |
2018 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2019 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2019 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2019 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
moderate |
|
0 |
|
|
|
Photoreceptor degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
136
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Polyhydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
208
|
28
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.300 |
moderate |
|
0 |
|
|
|