SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
44
|
12
|
1.000 |
definitive |
0.956 |
45 |
10
|
1995 |
2019 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.800 |
None |
0.938 |
16 |
7
|
1997 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.600 |
None |
0.984 |
191 |
1
|
1997 |
2020 |
Hepatoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
452
|
22
|
0.400 |
None |
1.000 |
16 |
|
1997 |
2020 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.380 |
None |
1.000 |
9 |
|
2014 |
2019 |
Mesothelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
560
|
4
|
0.320 |
None |
1.000 |
3 |
|
1998 |
2001 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.300 |
None |
1.000 |
24 |
|
2005 |
2020 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
1.000 |
1 |
|
2000 |
2000 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.300 |
None |
|
0 |
|
|
|
Hepatoblastoma Caused By Somatic Mutation
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
106
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.140 |
None |
1.000 |
4 |
|
2000 |
2019 |
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.120 |
strong |
1.000 |
2 |
|
2001 |
2012 |
Lung Neoplasms
|
group |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1486
|
39
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
74 |
|
1997 |
2020 |
Simpson-Golabi-Behmel syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
1.000 |
21 |
|
1997 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.950 |
20 |
|
1997 |
2019 |
Liver and Intrahepatic Biliary Tract Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1395
|
73
|
0.100 |
None |
1.000 |
18 |
|
2008 |
2020 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.100 |
None |
1.000 |
18 |
|
2008 |
2020 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
1.000 |
16 |
|
1997 |
2019 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.100 |
None |
0.933 |
15 |
|
2003 |
2019 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.100 |
None |
1.000 |
14 |
|
2011 |
2020 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
0.929 |
14 |
|
1997 |
2019 |