CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.700 |
strong |
1.000 |
2 |
4
|
2016 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.120 |
None |
1.000 |
3 |
1
|
2016 |
2018 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.110 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
139
|
9
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Decreased tendon reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
10
|
13
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Laryngotracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
11
|
6
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Dystonic posture
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Speech Delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
58
|
11
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2016 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
CUI: |
C1968949 |
Disease: |
Cakut
|
Cakut
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
72
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Hyperopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
142
|
29
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|