Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
17
|
|
0.360 |
None |
0.833 |
6 |
|
1999 |
2013 |
JOUBERT SYNDROME 4 (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.600 |
None |
1.000 |
5 |
|
1977 |
2012 |
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
|
0.610 |
None |
1.000 |
4 |
|
2005 |
2013 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2019 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.130 |
None |
1.000 |
3 |
|
1997 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2010 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.330 |
None |
1.000 |
3 |
|
2007 |
2014 |
Senior-Loken Syndrome 1
|
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
|
5
|
3
|
0.500 |
None |
1.000 |
3 |
|
1977 |
2012 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2010 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2006 |
Meckel syndrome type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
53
|
38
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2006 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Jacobsen Distal 11q Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
28
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Medullary cystic disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Apraxia, oculomotor, Cogan type
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
2
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
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 |
Polyendocrinopathies, Autoimmune
|
group |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
166
|
21
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
PONTINE TEGMENTAL CAP DYSPLASIA
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Johanson-Blizzard syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |