Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.900 |
None |
0.971 |
35 |
8
|
2007 |
2020 |
SCN8A-related epilepsy with encephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
52
|
0.720 |
None |
1.000 |
30 |
52
|
2002 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.150 |
None |
0.967 |
30 |
2
|
1995 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
26 |
3
|
1995 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
26 |
2
|
1995 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.200 |
None |
1.000 |
23 |
7
|
2012 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.200 |
None |
1.000 |
15 |
7
|
2007 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
disease |
|
Disease or Syndrome
|
11
|
76
|
0.100 |
None |
1.000 |
9 |
3
|
2014 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.670 |
strong |
1.000 |
7 |
2
|
2006 |
2019 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.070 |
None |
1.000 |
7 |
|
2001 |
2008 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.450 |
None |
1.000 |
6 |
|
1997 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.350 |
None |
1.000 |
6 |
|
1998 |
2018 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.160 |
None |
1.000 |
6 |
|
2014 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.350 |
None |
1.000 |
5 |
|
1997 |
2019 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
862
|
115
|
0.050 |
None |
1.000 |
5 |
|
1989 |
2014 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.330 |
None |
1.000 |
4 |
|
2015 |
2018 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.140 |
None |
1.000 |
4 |
4
|
2014 |
2020 |
Pseudoachondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
16
|
0.040 |
None |
1.000 |
4 |
|
1997 |
2008 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.040 |
None |
1.000 |
4 |
|
1989 |
2014 |
Childhood Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
771
|
25
|
0.040 |
None |
1.000 |
4 |
|
1989 |
2014 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.700 |
None |
1.000 |
3 |
5
|
2014 |
2016 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2007 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2003 |