Sotos' syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
25
|
|
0.700 |
definitive |
0.987 |
78 |
|
2002 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.700 |
strong |
1.000 |
18 |
4
|
2002 |
2019 |
Weaver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
13
|
0.650 |
strong |
1.000 |
6 |
|
2003 |
2015 |
SOTOS SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
201
|
0.610 |
None |
1.000 |
16 |
201
|
2002 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.440 |
None |
1.000 |
4 |
|
2003 |
2019 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.430 |
strong |
1.000 |
18 |
52
|
2003 |
2017 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.410 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Chromosome 5, monosomy 5q35
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
325
|
30
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
5q35 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Acute Myeloid Leukemia, M1
|
disease |
Neoplasms
|
Neoplastic Process
|
138
|
|
0.300 |
None |
|
0 |
|
|
|
Acute Myeloid Leukemia (AML-M2)
|
disease |
Neoplasms
|
Neoplastic Process
|
143
|
5
|
0.300 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.140 |
None |
1.000 |
4 |
1
|
2009 |
2017 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.130 |
None |
1.000 |
3 |
|
2005 |
2013 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2017 |
Hyperinsulinemic hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
52
|
6
|
0.120 |
None |
1.000 |
2 |
1
|
2015 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
10 |
2
|
2002 |
2013 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.110 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |