CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.900 |
None |
1.000 |
2 |
3
|
2012 |
2018 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
disease |
|
Finding
|
1
|
6
|
0.700 |
None |
1.000 |
4 |
6
|
2012 |
2016 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.220 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Amino Acid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
|
0.200 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Alpha-aminoadipic aciduria
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypesthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Eosinophilic esophagitis
|
disease |
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
183
|
40
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Osteoporosis, Postmenopausal
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
171
|
38
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Glutaric aciduria, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
112
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |