MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
disease
Disease or Syndrome
6
3
0.200
None
1.000
2
2013
2016
Glioblastoma
disease
Neoplasms
Neoplastic Process
3177
281
0.020
None
1.000
2
2017
2019
Multi-core congenital myopathy
disease
Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
16
0.200
None
1.000
2
2013
2016
Adult Medulloblastoma
disease
Neoplasms
Neoplastic Process
762
24
0.010
None
1.000
1
2019
2019
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
1.000
1
1
2016
2016
Polymicrogyria
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
199
29
0.100
None
1.000
1
1
2016
2016
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
1.000
1
1
2016
2016
Congenital anomaly of brain
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
Congenital Abnormality
103
7
0.010
None
1.000
1
2003
2003
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.010
None
1.000
1
2013
2013
Retinal Diseases
group
Eye Diseases
Disease or Syndrome
714
56
0.010
None
1.000
1
2016
2016
Neuroblastoma
disease
Neoplasms
Neoplastic Process
2509
386
0.010
None
1.000
1
2006
2006
Pachygyria
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
129
8
0.100
None
1.000
1
1
2016
2016
Central neuroblastoma
disease
Neoplasms; Nervous System Diseases
Neoplastic Process
2419
231
0.010
None
1.000
1
2006
2006
×
CUI:
C0010709
Disease:
Cyst
Cyst
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Disease or Syndrome
221
6
0.010
None
1.000
1
2003
2003
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.110
None
1.000
1
2016
2016
Eye Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
55
3
0.010
None
1.000
1
2010
2010
Childhood Neuroblastoma
disease
Neoplasms
Neoplastic Process
2420
231
0.010
None
1.000
1
2006
2006
Childhood Medulloblastoma
disease
Neoplasms
Neoplastic Process
771
25
0.010
None
1.000
1
2019
2019
Hydrocephalus
disease
Nervous System Diseases
Disease or Syndrome
473
37
0.110
None
1.000
1
2003
2003
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.010
None
1.000
1
2006
2006
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.010
None
1.000
1
2008
2008
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.110
None
1.000
1
2009
2009
Abnormal lactate dehydrogenase activity
phenotype
Finding
19
1
0.100
None
0
Retinal Dystrophies
group
Eye Diseases
Disease or Syndrome
219
227
0.100
None
0
Decreased light- and dark-adapted electroretinogram amplitude
phenotype
Finding
15
1
0.100
None
0