Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of bone mineral density
|
disease |
|
Anatomical Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Situs Inversus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
138
|
6
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2010 |
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
184
|
32
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
Congenital anomaly of bile ducts
|
group |
Digestive System Diseases
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
< 0.001 |
1 |
|
2002 |
2002 |
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital atresia of extrahepatic bile duct
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
172
|
19
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.100 |
None |
|
0 |
|
|
|
NEPHRONOPHTHISIS 2
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
7
|
0.960 |
None |
1.000 |
16 |
5
|
1993 |
2020 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.500 |
strong |
1.000 |
15 |
9
|
2002 |
2018 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2017 |
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
|
0.500 |
strong |
1.000 |
3 |
|
2003 |
2012 |
Hydrocephalus, Normal Pressure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
6
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2009 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2009 |
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 |
2013 |
Medullary cystic kidney disease 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2001 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2009 |
Nephronophthisis 1
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
6
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2010 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |