Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.310 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Spastic tetraparesis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
5
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Visual Cortex Disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.300 |
None |
1.000 |
1 |
|
2020 |
2020 |
Glucose-6-phosphate transport defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
9
|
63
|
0.100 |
None |
1.000 |
12 |
11
|
1998 |
2017 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.100 |
None |
1.000 |
3 |
1
|
1998 |
2000 |
GLYCOGEN STORAGE DISEASE Ic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2014 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |