Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.410 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
None |
1.000 |
2 |
|
2011 |
2019 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Childhood Large Cell Lymphoma
|
disease |
|
Neoplastic Process
|
30
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Melanocytoma
|
disease |
|
Neoplastic Process
|
18
|
3
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
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 |
|
2019 |
2019 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
25
|
2017 |
2017 |
obsolete Peripheral retinopathy
|
disease |
|
Disease or Syndrome
|
5
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Reticulosarcoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
80
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Diverticular Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
83
|
88
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
2
|
2019 |
2019 |