Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.320 |
None |
1.000 |
3 |
|
2009 |
2018 |
Methylmalonic Aciduria, mut(0) Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
11
|
0.800 |
limited |
1.000 |
3 |
11
|
2003 |
2016 |
Methylmalonic Aciduria, mut(-) Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
3 |
2
|
2003 |
2016 |
Propionic acidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
124
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Disorder of organic acid metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Methylmalonyl-Coenzyme A mutase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Hyperglycinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
39
|
27
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Meleda Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
18
|
15
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Megalencephaly cutis marmorata telangiectatica congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
18
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
502
|
80
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Secondary malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
951
|
34
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Carcinoma of ampulla of Vater
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
37
|
4
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pancreatic Ductal Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
970
|
22
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Cervix Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
43
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mastitis-metritis-agalactia syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
23
|
3
|
0.100 |
None |
0.964 |
28 |
3
|
1990 |
2019 |
Nephritis, Tubulointerstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
92
|
6
|
0.100 |
None |
|
0 |
|
|
|