Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Macroencephaly
|
disease |
|
Congenital Abnormality
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.050 |
None |
1.000 |
5 |
|
2009 |
2019 |
Leukoencephalopathy, Cystic, Without Megalencephaly
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.710 |
strong |
1.000 |
5 |
2
|
2009 |
2016 |
Graves Disease
|
disease |
Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
585
|
352
|
0.320 |
None |
1.000 |
3 |
|
2011 |
2018 |
Vitiligo
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
395
|
249
|
0.110 |
None |
1.000 |
3 |
2
|
2010 |
2016 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Congenital cytomegalovirus infection
|
disease |
Infections
|
Disease or Syndrome
|
29
|
7
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Congenital infectious disease
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections
|
Disease or Syndrome
|
29
|
7
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
CUI: |
C0010709 |
Disease: |
Cyst
|
Cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Disease or Syndrome
|
221
|
6
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperthyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
279
|
27
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Parasitic Diseases
|
group |
Infections
|
Disease or Syndrome
|
164
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Thyroid Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
230
|
26
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Asthenozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
164
|
17
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
302
|
92
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|