Congenital muscular hypertrophy-cerebral syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
5
50
0.730
None
1.000
14
50
2006
2019
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.420
strong
1.000
3
1
2015
2019
Growth Deficiency and Mental Retardation with Facial Dysmorphism
disease
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
4
42
0.410
None
1.000
1
2
2015
2015
Cornelia De Lange Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
48
3
0.400
None
1.000
40
1
2006
2019
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.370
None
1.000
8
2015
2019
Epileptic encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
187
126
0.310
strong
1.000
3
2006
2015
Myeloid Leukemia
disease
Neoplasms
Neoplastic Process
385
7
0.300
None
1.000
1
2013
2013
Adenoid Cystic Carcinoma
disease
Neoplasms
Neoplastic Process
325
30
0.300
None
1.000
1
2013
2013
Leukemia, Monocytic, Chronic
disease
Neoplasms
Neoplastic Process
18
0.300
None
1.000
1
2013
2013
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
Neurodevelopmental Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
535
14
0.300
None
1.000
1
2018
2018
Malignant neoplasm of urinary bladder
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2113
316
0.300
None
1.000
1
2013
2013
Bladder Neoplasm
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2130
281
0.300
None
1.000
1
2013
2013
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
Acute Promyelocytic Leukemia
disease
Neoplasms
Neoplastic Process
651
21
0.300
limited
1.000
1
2016
2016
Cornelia de Lange Syndrome 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
8
266
0.300
None
0
Cornelia de Lange Syndrome 3
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
5
20
0.300
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.130
None
1.000
3
2007
2017
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.120
None
1.000
2
2
2015
2017
Cleft Palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
611
158
0.110
None
1.000
1
2017
2017
Hyperactive behavior
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
1263
112
0.110
None
1.000
1
2017
2017
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
16
3
1995
2017
Movement Disorders
group
Nervous System Diseases
Disease or Syndrome
362
247
0.100
None
1.000
16
1
1995
2017
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
16
1
1995
2017