Prominent nasal tip
|
phenotype |
|
Finding
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hyperkinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Fibrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
413
|
9
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Adult Fibrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
387
|
9
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Pelger-Huet Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
1 |
|
1996 |
1996 |
Cytomegalovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
462
|
26
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1998 |
Amebiasis
|
disease |
Infections
|
Disease or Syndrome
|
37
|
2
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Amebic colitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
49
|
1
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Bone neoplasms
|
group |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
151
|
4
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Synovial sarcoma, epithelioid cell
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
985
|
59
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Intraepithelial Neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
186
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Ameloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
174
|
4
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Adamantinoma
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
24
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |