Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Portal Hypertension
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
167
|
9
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
235
|
34
|
0.010 |
None |
< 0.001 |
1 |
2
|
2017 |
2017 |
Exocrine pancreatic insufficiency
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
82
|
26
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Adult type dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
218
|
31
|
0.010 |
None |
< 0.001 |
1 |
2
|
2017 |
2017 |
Polymyositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
183
|
22
|
0.010 |
None |
< 0.001 |
1 |
3
|
2017 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.500 |
None |
1.000 |
30 |
10
|
2010 |
2019 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.400 |
None |
1.000 |
12 |
|
2006 |
2018 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.500 |
strong |
1.000 |
11 |
|
2006 |
2020 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.200 |
None |
1.000 |
10 |
2
|
2009 |
2019 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.090 |
None |
1.000 |
9 |
2
|
2010 |
2019 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.440 |
None |
1.000 |
7 |
4
|
2009 |
2017 |
Fasting blood glucose measurement
|
phenotype |
|
Laboratory Procedure
|
96
|
212
|
0.100 |
None |
1.000 |
6 |
5
|
2010 |
2015 |
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
5 |
4
|
2017 |
2019 |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.900 |
None |
1.000 |
4 |
4
|
2003 |
2009 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2010 |