Mild global developmental delay
|
phenotype |
|
Finding
|
36
|
13
|
0.100 |
None |
|
0 |
|
|
|
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Carnitine deficiency
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.100 |
None |
|
0 |
|
|
|
Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|
Dicarboxylic aciduria
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.100 |
None |
|
0 |
|
|
|
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
0.959 |
121 |
|
1983 |
2020 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.100 |
None |
0.971 |
240 |
|
1987 |
2020 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.100 |
None |
1.000 |
81 |
|
1987 |
2019 |
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.090 |
None |
1.000 |
9 |
|
1995 |
2019 |
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2017 |
Dysequilibrium syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Gastrointestinal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
144
|
14
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Appendicitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
83
|
10
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Chronic ulcerative colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
40
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Isobutyryl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
12
|
0.730 |
definitive |
1.000 |
11 |
12
|
2003 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.100 |
None |
1.000 |
19 |
|
2004 |
2019 |
Leprosy
|
disease |
Infections
|
Disease or Syndrome
|
190
|
120
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |