Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
phenotype |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
5
|
0.790 |
definitive |
0.952 |
16 |
4
|
1991 |
2019 |
Brain Diseases, Metabolic, Inherited
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Brain Diseases, Metabolic, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Central Nervous System Inborn Metabolic Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Developmental Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
9
|
8
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
11
|
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2018 |
Etat Marbre
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Diastematomyelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Tethered Cord Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
28
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Iniencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.310 |
None |
1.000 |
1 |
|
2005 |
2009 |
Spinal Cord Myelodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
240
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2019 |
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
30
|
|
0.400 |
None |
1.000 |
1 |
|
1998 |
2019 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
44
|
18
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
47
|
30
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
109
|
90
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |