Methylmalonic acidemia with homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
58
|
0.300 |
None |
|
0 |
|
|
|
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
|
disease |
|
Disease or Syndrome
|
2
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Cystathioninemia
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Fibrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gamma-cystathionase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypomethioninemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased methylmalonyl-CoA mutase activity
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased methionine synthase activity
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased adenosylcobalamin
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased methylcobalamin
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Geleophysic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperhomocystinemia
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Fibrosis - from Asbestos Exposure
|
disease |
Respiratory Tract Diseases; Occupational Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Aneurysmal disease
|
disease |
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Deformity of bone
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Homocysteine measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anemia, Megaloblastic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
2
|
0.100 |
None |
|
0 |
|
|
|
Methylmalonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Deformity of limb
|
group |
|
Anatomical Abnormality
|
37
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Beta thalassemia intermedia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
37
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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
|
0.100 |
None |
|
0 |
|
|
|
Radiation Damage
|
disease |
Wounds and Injuries
|
Disease or Syndrome
|
44
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Methylmalonic acidemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
35
|
0.100 |
None |
|
0 |
|
|
|