Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mycoses
|
group |
Infections
|
Disease or Syndrome
|
94
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Humoral immune defect
|
group |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.050 |
None |
1.000 |
5 |
|
2014 |
2018 |
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Anisocytosis
|
phenotype |
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Serum iron low (finding)
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Elliptocytosis found
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Scotoma, Ring
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Decreased mean corpuscular volume
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial atrophy
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Anisocyte Measurement
|
phenotype |
|
Laboratory Procedure
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Photoreceptor layer loss on macular OCT
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.160 |
None |
1.000 |
6 |
|
2014 |
2019 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.050 |
None |
1.000 |
5 |
|
2016 |
2019 |
Sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
11
|
0.430 |
strong |
1.000 |
3 |
|
2016 |
2019 |
Hereditary sideroblastic anemia
|
disease |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
1
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2018 |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
2
|
8
|
0.730 |
None |
1.000 |
3 |
8
|
2014 |
2016 |