Oculocerebrorenal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
42
|
0.800 |
None |
1.000 |
98 |
42
|
1993 |
2020 |
Dent's disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
12
|
0.100 |
None |
1.000 |
16 |
|
2005 |
2017 |
Dent Disease 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
7
|
0.700 |
None |
1.000 |
8 |
6
|
1999 |
2016 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.050 |
None |
0.800 |
5 |
|
1998 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.150 |
None |
1.000 |
5 |
|
1998 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.150 |
None |
1.000 |
5 |
|
2005 |
2018 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2013 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2020 |
Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
4
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2020 |
De Toni-Debre-Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
2
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2020 |
Dent disease 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
22
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2014 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2005 |
Nephrocalcinosis
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
118
|
20
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
|
2009 |
2009 |
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Febrile proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital musculoskeletal anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Subcortical Band Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
30
|
3
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |