NEPHRONOPHTHISIS 15
|
disease |
|
Disease or Syndrome
|
1
|
10
|
0.700 |
strong |
1.000 |
1 |
10
|
2012 |
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
|
0.500 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.320 |
strong |
1.000 |
2 |
|
2012 |
2014 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
None |
|
0 |
|
|
|
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
|
|
|
Hepatic Fibrosis, Congenital
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
63
|
2
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped epiphysis
|
phenotype |
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of bone mineral density
|
disease |
|
Anatomical Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.100 |
None |
|
0 |
|
|
|
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|