Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
None |
1.000 |
1 |
|
2014 |
2014 |
Tubular Atrophy Assessment
|
phenotype |
|
Diagnostic Procedure
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.490 |
moderate |
1.000 |
10 |
2
|
2007 |
2020 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2018 |
NEPHRONOPHTHISIS 7
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
1
|
0.800 |
moderate |
1.000 |
3 |
1
|
2007 |
2013 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2015 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2016 |
Atrophy of kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2016 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2011 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hydrocephalus, Normal Pressure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
6
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Skin lesion
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
563
|
52
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Renal fibrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
570
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Congenital cystic kidney disease
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome; Congenital Abnormality
|
31
|
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2016 |
Caroli Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|