SeSAME syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
6
|
12
|
1.000 |
strong |
1.000 |
26 |
12
|
1997 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
1.000 |
12 |
3
|
2004 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.200 |
None |
1.000 |
11 |
3
|
2004 |
2018 |
Pendred's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
142
|
0.340 |
None |
1.000 |
4 |
1
|
2009 |
2013 |
Enlarged Vestibular Aqueduct
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
4
|
|
0.400 |
disputed |
1.000 |
3 |
|
2004 |
2009 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.030 |
None |
1.000 |
3 |
1
|
2011 |
2019 |
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2013 |
Linear atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
149
|
6
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2013 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
81
|
0.600 |
strong |
1.000 |
2 |
2
|
1997 |
2009 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.210 |
None |
1.000 |
2 |
|
2006 |
2012 |
Diabetic Retinopathy
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
645
|
213
|
0.200 |
None |
1.000 |
2 |
|
2011 |
2012 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2018 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.120 |
None |
1.000 |
2 |
1
|
2013 |
2018 |
Idiopathic generalized epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
24
|
0.020 |
None |
1.000 |
2 |
2
|
2005 |
2015 |
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
Epilepsy, Generalized
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
93
|
36
|
0.020 |
None |
1.000 |
2 |
1
|
2005 |
2015 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Multiple Sclerosis, Acute Fulminating
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
45
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Uveitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
247
|
43
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Subarachnoid Hemorrhage
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
501
|
26
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |