ALKURAYA-KUCINSKAS SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.600 |
None |
1.000 |
4 |
8
|
2015 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.140 |
None |
1.000 |
7 |
6
|
2007 |
2016 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.120 |
None |
0.714 |
7 |
5
|
2011 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.120 |
None |
1.000 |
3 |
2
|
2009 |
2010 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.120 |
None |
1.000 |
3 |
5
|
2007 |
2014 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.110 |
None |
1.000 |
3 |
2
|
2007 |
2015 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.110 |
None |
1.000 |
2 |
3
|
2011 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2000 |
2000 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.100 |
None |
1.000 |
2 |
1
|
2012 |
2015 |
Allergic Reaction
|
phenotype |
Immune System Diseases
|
Pathologic Function
|
197
|
1019
|
0.100 |
None |
1.000 |
2 |
3
|
2013 |
2018 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Mood Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
580
|
308
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Immune System Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
451
|
116
|
0.100 |
None |
1.000 |
1 |
5
|
2011 |
2011 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Primary sclerosing cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
264
|
58
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Overlapping fingers
|
disease |
|
Acquired Abnormality
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neuronal heterotopia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
67
|
3
|
0.100 |
None |
|
0 |
|
|
|