Mthfr Deficiency, Thermolabile Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
definitive |
1.000 |
7 |
|
1994 |
2017 |
Hearing Loss, Sudden
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
1
|
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2006 |
Intestinal infarction
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Lateral Sinus Thrombosis
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Silent myocardial infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Multicystic Encephalomalacia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Posterior cerebral artery occlusion
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Stage IV Colon Carcinoma
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Fetus affected by placental transfer of anticonvulsant
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
1999 |
1999 |
malignant neoplasm of large intestine stage IV
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Cervical meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Headache in children
|
phenotype |
|
Sign or Symptom
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
|
disease |
|
Finding
|
1
|
6
|
0.400 |
strong |
1.000 |
1 |
6
|
2016 |
2016 |
Neonatal thrombosis of cerebral venous sinus
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Homocystinuria without methylmalonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Stage IV Colon Cancer AJCC v8
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Arakawa syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
1997 |
1997 |
Factor II mutation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
2
|
0.020 |
None |
1.000 |
2 |
1
|
2010 |
2012 |
Methylcobalamin Deficiency, CblG Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
9
|
0.020 |
None |
1.000 |
2 |
1
|
1997 |
1997 |
Equinus Deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lemierre Syndrome
|
disease |
Infections; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Folic acid measurement, RBC
|
phenotype |
|
Laboratory Procedure
|
2
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Maxillofacial Abnormalities
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Petrous Sinus Thrombophlebitis
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Intracranial Sinus Thrombophlebitis
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |