MENTAL RETARDATION, X-LINKED 106
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
3
|
0.600 |
strong |
1.000 |
3 |
3
|
2015 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Endothelial dysfunction
|
phenotype |
|
Disease or Syndrome
|
716
|
25
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hyperopia, High
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
47
|
1
|
0.100 |
None |
|
0 |
|
|
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
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 |
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Autoimmune hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
190
|
22
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autoimmune Chronic Hepatitis
|
disease |
Digestive System Diseases; Immune System Diseases
|
Disease or Syndrome
|
213
|
23
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |