Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1286
|
214
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
MiT family translocation renal cell carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
33
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult Alveolar Soft Part Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
30
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Alveolar Soft Part Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
30
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Alveolar Soft Part Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
61
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital disorder of glycosylation type 1s
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.070 |
None |
1.000 |
7 |
|
2007 |
2019 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Elevated serum transaminases during infections
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal brain lactate level by MRS
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|