GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
19
|
0.400 |
definitive |
1.000 |
34 |
19
|
1989 |
2017 |
GLUT1 DEFICIENCY SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
35
|
0.700 |
definitive |
1.000 |
31 |
35
|
1989 |
2018 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
disease |
|
Finding
|
1
|
11
|
0.600 |
strong |
1.000 |
7 |
11
|
2000 |
2015 |
CHOREOATHETOSIS/SPASTICITY, EPISODIC
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.710 |
None |
1.000 |
4 |
7
|
2008 |
2016 |
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
4 |
8
|
2011 |
2014 |
Hypoglycorrhachia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Myoclonic absences
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Abnormality of red blood cells
|
group |
Hemic and Lymphatic Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased intracellular sodium
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Lung hyperinflation
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Brain Diseases, Metabolic
|
group |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Familial obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
3
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Intermediate Grade Ductal Breast Carcinoma In Situ
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
|
disease |
|
Disease or Syndrome
|
4
|
13
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Epilepsy with myoclonic-atonic seizures
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital hemangioma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
|
Neoplastic Process
|
5
|
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Paroxysmal choreoathetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Intracerebral periventricular calcifications
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
DYSTONIA 18 (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
19
|
0.750 |
None |
1.000 |
21 |
19
|
2000 |
2019 |
MYOCLONIC-ATONIC EPILEPSY
|
disease |
|
Disease or Syndrome
|
6
|
16
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2019 |
EPILEPSY, CHILDHOOD ABSENCE, 1
|
disease |
|
Disease or Syndrome
|
6
|
5
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2012 |
Constitutional obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
EEG with spike-wave complexes (2.5-3.5 Hz)
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Complex Endometrial Hyperplasia
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |