Hyalinosis, Segmental Glomerular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
|
0 |
|
|
|
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 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
RETINITIS PIGMENTOSA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
32
|
21
|
0.200 |
None |
|
0 |
|
|
|
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Renal corticomedullary cysts
|
disease |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
moderate |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
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 |
Nephrotic Syndrome
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
384
|
45
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2016 |
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 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 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 |
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 |