HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2011 |
2016 |
Phosphoribosylpyrophosphate Synthetase Superactivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
7
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Potassium depletion
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fetal anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Narrow foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental abnormality
|
phenotype |
|
Pathologic Function
|
7
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Pulmonary congestion
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Morphological abnormality of the central nervous system
|
group |
|
Anatomical Abnormality
|
10
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Combined molybdoflavoprotein enzyme deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Aphakia, congenital primary
|
disease |
Eye Diseases
|
Congenital Abnormality
|
14
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Portal fibrosis
|
phenotype |
Digestive System Diseases
|
Disease or Syndrome
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatic methionine adenosyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
15
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2019 |
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.120 |
None |
1.000 |
2 |
1
|
2011 |
2019 |
Rasmussen subacute encephalitis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
17
|
1
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Adenosine deaminase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Rasmussen Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
18
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
15
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Anoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cryoglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
7
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Recurrent seizure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Adenoma, Basal Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acinar Cell Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
65
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |