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 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anemia, Neonatal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Iron-Refractory Iron Deficiency Anemia
|
disease |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
36
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Iron Overload
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
241
|
53
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Juvenile cataract
|
disease |
Eye Diseases
|
Anatomical Abnormality
|
16
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Thrombocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
93
|
12
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Extramedullary Hematopoiesis (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
52
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Elliptocytosis, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Microcytic hypochromic anemia (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.100 |
None |
|
0 |
|
|
|
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
strong |
|
0 |
3
|
|
|
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 |
|
|
|