EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
2
44
0.720
strong
1.000
23
44
1990
2017
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
16
1
2008
2017
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
16
1
2008
2017
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
1.000
11
2009
2019
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.090
None
1.000
9
2009
2019
X-linked infantile spasms
disease
Nervous System Diseases
Disease or Syndrome
53
122
0.050
None
1.000
5
2015
2019
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.050
None
1.000
5
2008
2016
Epileptic Syndromes
disease
Nervous System Diseases
Disease or Syndrome
46
2
0.050
None
1.000
5
2013
2018
Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.040
None
1.000
4
2009
2019
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.040
None
1.000
4
2006
2019
Seizures, Focal
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
210
15
0.130
None
1.000
3
2012
2018
Abnormal behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
910
121
0.030
None
1.000
3
2017
2019
Afebrile seizure
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
8
1
0.030
None
1.000
3
2009
2011
Epileptic encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
187
126
0.030
None
1.000
3
2012
2018
Generalized seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
210
13
0.120
None
1.000
2
1
2016
2018
Familial (FPAH)
disease
Disease or Syndrome
1075
276
0.020
None
1.000
2
2010
2011
Developmental delay (disorder)
phenotype
Mental Disorders
Mental or Behavioral Dysfunction
584
68
0.020
None
1.000
2
2010
2018
Schizophrenia
disease
Mental Disorders
Mental or Behavioral Dysfunction
2872
2897
0.020
None
1.000
2
2012
2019
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.120
None
1.000
2
1
2010
2018
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.020
None
1.000
2
2018
2018
Affective Symptoms
phenotype
Behavior and Behavior Mechanisms
Sign or Symptom
23
10
0.020
None
1.000
2
2012
2016
Febrile infection related epilepsy syndrome
disease
Nervous System Diseases
Disease or Syndrome
8
2
0.020
None
1.000
2
2011
2012
Pervasive Development Disorder
group
Mental Disorders
Mental or Behavioral Dysfunction
328
49
0.010
None
1.000
1
2016
2016
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2008
2008
Klinefelter's syndrome - male with more than two X chromosomes
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
90
5
0.010
None
1.000
1
2018
2018