Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Graves Disease
|
disease |
Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
585
|
352
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Spinocerebellar Ataxia 10
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Post-Traumatic Stress Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
418
|
117
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Segmental dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyper LDL cholesterolaemia
|
disease |
|
Disease or Syndrome
|
20
|
19
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Friedreich Ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
88
|
11
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Virus Diseases
|
group |
Infections
|
Disease or Syndrome
|
1471
|
42
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Wiskott-Aldrich Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
95
|
34
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
74
|
68
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
1996 |
1996 |
Antiphospholipid Syndrome
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
99
|
17
|
0.010 |
None |
1.000 |
1 |
3
|
2013 |
2013 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
1996 |
1996 |
Primary Progressive Nonfluent Aphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
21
|
13
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
66
|
201
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Nervous system--Degeneration
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Adenomatous Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
609
|
237
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |