Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
moderate |
1.000 |
10 |
|
1959 |
2018 |
Hyperhomocysteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
246
|
45
|
0.220 |
None |
1.000 |
3 |
|
2002 |
2019 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2016 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2018 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2016 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.320 |
None |
1.000 |
2 |
|
2013 |
2018 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2016 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Nonalcoholic Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
434
|
17
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fatty Liver Disease
|
disease |
|
Disease or Syndrome
|
741
|
81
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Immune thrombocytopenic purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
338
|
35
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital disorder of glycosylation type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
80
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hepatic methionine adenosyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
15
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cystathionine beta-Synthase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
118
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aortic Aneurysm, Abdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
586
|
90
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
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 |
|
2011 |
2011 |
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |