Saethre-Chotzen Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
33
|
0.410 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.410 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Carcinoma, Transitional Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
623
|
12
|
0.400 |
None |
1.000 |
27 |
|
2001 |
2019 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.400 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
37
|
5
|
0.400 |
strong |
|
0 |
|
|
|
Malignant tumor of cervix
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1718
|
245
|
0.340 |
None |
1.000 |
4 |
|
2013 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.320 |
moderate |
1.000 |
3 |
1
|
2007 |
2017 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.310 |
moderate |
1.000 |
2 |
1
|
2007 |
2014 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Giant Cell Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
gliosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
80
|
5
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Seminoma
|
disease |
Neoplasms
|
Neoplastic Process
|
311
|
12
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Syringocystadenoma Papilliferum
|
disease |
Neoplasms
|
Neoplastic Process
|
6
|
|
0.300 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Nevus, Keratinocytic, Nonepidermolytic
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.300 |
None |
|
0 |
1
|
|
|
Benign neoplasm of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Carcinoma in situ of uterine cervix
|
disease |
Neoplasms
|
Neoplastic Process
|
117
|
18
|
0.300 |
None |
|
0 |
|
|
|
Lymphoma, T-Cell, Cutaneous
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
367
|
5
|
0.300 |
None |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Carcinoma in situ of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
16
|
|
0.300 |
None |
|
0 |
|
|
|