KLEEFSTRA SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
25
|
1.000 |
definitive |
1.000 |
26 |
25
|
2006 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.320 |
None |
1.000 |
2 |
1
|
2012 |
2017 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
862
|
115
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Medullomyoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Melanotic medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Childhood Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
771
|
25
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Desmoplastic Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
54
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.200 |
None |
1.000 |
37 |
|
2006 |
2020 |
Kleefstra syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
9
|
11
|
0.200 |
None |
1.000 |
19 |
11
|
2011 |
2019 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.140 |
None |
1.000 |
4 |
1
|
2017 |
2018 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.130 |
None |
1.000 |
4 |
1
|
2012 |
2017 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.130 |
None |
1.000 |
3 |
|
2016 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2012 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.130 |
None |
1.000 |
3 |
1
|
2013 |
2019 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2017 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
0.970 |
298 |
3
|
1993 |
2020 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.100 |
None |
1.000 |
92 |
1
|
2005 |
2020 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.100 |
None |
1.000 |
89 |
1
|
2005 |
2020 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
0.957 |
46 |
|
2017 |
2020 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.100 |
None |
0.931 |
29 |
|
2013 |
2020 |