KBG syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
Disease or Syndrome
3
46
0.800
definitive
1.000
30
45
2008
2019
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.330
None
1.000
3
2008
2013
Neurodevelopmental Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
535
14
0.310
None
1.000
3
2015
2018
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.300
None
1.000
1
2018
2018
Metabolic Bone Disorder
group
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
66
1
0.300
None
1.000
1
2008
2008
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
Osteopenia
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
845
61
0.300
None
1.000
1
2008
2008
16q24.3 microdeletion syndrome
disease
Disease or Syndrome
1
0.300
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.150
None
1.000
5
2013
2018
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.140
None
1.000
4
1
2012
2019
Macrodontia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Congenital Abnormality
12
1
0.130
None
1.000
3
2015
2017
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.130
None
1.000
3
1
2010
2018
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.130
None
1.000
3
2
2016
2019
Moderate intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
251
94
0.110
None
1.000
1
2017
2017
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
18
3
2004
2017
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
17
5
2004
2017
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
17
15
2004
2017
Lymphocyte Count measurement
phenotype
Laboratory Procedure
338
456
0.100
None
1.000
1
1
2016
2016
melanoma
disease
Neoplasms
Neoplastic Process
3087
515
0.100
None
1.000
1
1
2012
2012
Squamous cell carcinoma
disease
Neoplasms
Neoplastic Process
2507
257
0.100
None
1.000
1
1
2019
2019
Suntan
phenotype
Organ or Tissue Function
53
94
0.100
None
1.000
1
2
2018
2018
Red Blood Cell Count measurement
phenotype
Laboratory Procedure
717
1599
0.100
None
1.000
1
1
2019
2019
Hair Color
phenotype
Organism Attribute
130
312
0.100
None
1.000
1
1
2008
2008