Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.030 |
None |
0.667 |
3 |
|
2000 |
2004 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.030 |
None |
0.667 |
3 |
|
2000 |
2004 |
DOWN SYNDROME CRITICAL REGION
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
|
0.020 |
None |
0.500 |
2 |
|
2000 |
2001 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
10
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Visual Cortex Disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.400 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.400 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Broad finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic finger
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|