Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
339
|
1.000 |
definitive |
0.977 |
50 |
335
|
1975 |
2020 |
Mental Retardation, X-Linked, Syndromic 13
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
27
|
0.700 |
strong |
1.000 |
11 |
27
|
1999 |
2018 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
71
|
628
|
0.500 |
None |
1.000 |
5 |
1
|
2008 |
2018 |
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
43
|
0.720 |
strong |
1.000 |
3 |
43
|
1975 |
2018 |
Chromosome Xq28 Duplication Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2018 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
109
|
90
|
0.400 |
None |
0.818 |
1 |
|
2005 |
2020 |
Jacksonian Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
85
|
|
0.320 |
None |
1.000 |
1 |
|
2011 |
2017 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
6
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Clonic Seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.500 |
None |
1.000 |
1 |
|
2002 |
2010 |
Tonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
5
|
0.400 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Olfactory seizure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Vertiginous seizure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
21
|
0.400 |
None |
1.000 |
1 |
|
2010 |
2010 |
Single Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atonic Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Myoclonus, Eyelid
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
9
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
13
|
10
|
0.420 |
None |
1.000 |
1 |
1
|
2006 |
2012 |