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 |
Disease Exacerbation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
166
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Stomach Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
820
|
55
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.160 |
None |
1.000 |
6 |
|
2017 |
2020 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.100 |
None |
0.971 |
240 |
|
1987 |
2020 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
0.959 |
121 |
|
1983 |
2020 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.100 |
None |
1.000 |
81 |
|
1987 |
2019 |
Irritable Bowel Syndrome
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
429
|
52
|
0.100 |
None |
1.000 |
24 |
|
2007 |
2019 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.100 |
None |
1.000 |
22 |
|
2010 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.100 |
None |
1.000 |
19 |
|
2004 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
18 |
|
2011 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.944 |
18 |
|
2011 |
2019 |
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.100 |
None |
0.917 |
12 |
|
2009 |
2019 |
Primary sclerosing cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
264
|
58
|
0.100 |
None |
1.000 |
12 |
|
2017 |
2020 |
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 |
|
|
|
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
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 |
|
|
|
Mild global developmental delay
|
phenotype |
|
Finding
|
36
|
13
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
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 |
|
|
|
Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|