Cavitation
|
disease |
|
Anatomical Abnormality
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Erythrokeratoderma
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Microstomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Lung Diseases, Interstitial
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
144
|
0.050 |
None |
0.800 |
5 |
|
2017 |
2020 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
AL-RAQAD SYNDROME
|
disease |
|
Disease or Syndrome
|
17
|
8
|
0.710 |
strong |
1.000 |
3 |
3
|
2015 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2016 |
Dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
235
|
34
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2020 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Adult type dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
218
|
31
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2020 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malaria, Falciparum
|
disease |
Infections
|
Disease or Syndrome
|
158
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
254
|
43
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |