CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.900 |
strong |
1.000 |
5 |
7
|
2011 |
2018 |
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
9
|
0.720 |
strong |
1.000 |
8 |
9
|
2012 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
20
|
0.700 |
None |
1.000 |
7 |
20
|
2010 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.480 |
None |
1.000 |
1 |
|
2010 |
2018 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
2
|
97
|
0.440 |
strong |
1.000 |
1 |
1
|
2012 |
2018 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
3
|
0.430 |
None |
1.000 |
1 |
1
|
2013 |
2017 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
9
|
0.400 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
14
|
5
|
0.400 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
25
|
0.320 |
strong |
1.000 |
1 |
|
2015 |
2017 |
Nonmedullary Thyroid Carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
61
|
1
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial Nonmedullary Thyroid Cancer
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
61
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
2
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
67
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Papillary thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
86
|
12
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Muscular atrophy, spinal, infantile chronic form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
8
|
0.300 |
None |
|
0 |
|
|
|
Muscular Atrophy, Spinal, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
9
|
0.300 |
None |
|
0 |
|
|
|
Spinal Muscular Atrophies of Childhood
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Juvenile Spinal Muscular Atrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
16
|
0.300 |
None |
|
0 |
|
|
|