Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Noonan Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
83
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
1
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
2
|
|
|
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Ewings sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
25
|
0.020 |
None |
1.000 |
2 |
|
1988 |
1991 |
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
|
disease |
|
Disease or Syndrome
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.030 |
None |
0.667 |
3 |
|
1991 |
2015 |
B-Cell Lymphomas
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1408
|
42
|
0.020 |
None |
0.500 |
2 |
|
1991 |
2010 |
Malignant neoplasm of soft tissue
|
group |
Neoplasms
|
Neoplastic Process
|
699
|
32
|
0.010 |
None |
< 0.001 |
1 |
|
1991 |
1991 |
Sarcoma
|
group |
Neoplasms
|
Neoplastic Process
|
853
|
42
|
0.010 |
None |
< 0.001 |
1 |
|
1991 |
1991 |
Jacobsen Distal 11q Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
28
|
2
|
0.060 |
None |
0.667 |
6 |
|
1994 |
2012 |
chromosome 11q duplication syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
3
|
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2000 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2017 |
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
155
|
132
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |