Lymphedema, microcephaly and chorioretinopathy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
23
|
0.740 |
None |
1.000 |
7 |
23
|
2012 |
2016 |
Chromosomal Instability
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Aneuploidy
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Microcephaly with Chorioretinopathy, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neoplasms, Experimental
|
phenotype |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
95
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.170 |
None |
1.000 |
7 |
|
2012 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.140 |
None |
1.000 |
5 |
5
|
2007 |
2012 |
Retinal Detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
10
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2016 |
Chorioretinal dysplasia
|
disease |
|
Anatomical Abnormality
|
21
|
|
0.120 |
None |
1.000 |
2 |
|
2012 |
2014 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
1
|
2012 |
2017 |
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2014 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2014 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
1.000 |
2 |
3
|
2014 |
2014 |
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2014 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Childhood asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
303
|
317
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Retinopathy, CTCAE
|
phenotype |
|
Finding
|
108
|
|
0.100 |
None |
|
0 |
|
|
|
Full cheeks
|
phenotype |
|
Finding
|
103
|
4
|
0.100 |
None |
|
0 |
|
|
|