Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Methylmalonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.300 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mouth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.020 |
None |
1.000 |
2 |
2
|
2008 |
2017 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.020 |
None |
1.000 |
2 |
2
|
2012 |
2017 |
Autoimmune gastritis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
28
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Neutropenic colitis
|
disease |
Digestive System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Typhlitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
4
|
|
0.300 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.330 |
None |
1.000 |
4 |
2
|
2006 |
2013 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Acute kidney injury
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Injury or Poisoning
|
185
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anemia, Megaloblastic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
2
|
0.330 |
None |
1.000 |
4 |
|
1972 |
2003 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.400 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.400 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.400 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Agranulocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
55
|
8
|
0.300 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Lymphohistiocytosis, Hemophagocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
117
|
13
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Deficiency anemias
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.100 |
None |
|
0 |
|
|
|
Agammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
1
|
0.300 |
strong |
1.000 |
3 |
|
1999 |
2009 |
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.100 |
None |
|
0 |
|
|
|