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
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
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
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.040
None
1.000
4
2012
2020
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.040
None
1.000
4
2012
2020
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
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.040
None
1.000
4
2012
2020
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.130
None
1.000
3
1
2010
2018
Abnormality of the skeletal system
disease
Anatomical Abnormality
148
18
0.030
None
1.000
3
2015
2019
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.130
None
1.000
3
2
2016
2019
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.330
None
1.000
3
2008
2013
Macrodontia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Congenital Abnormality
12
1
0.130
None
1.000
3
2015
2017
Developmental delay (disorder)
phenotype
Mental Disorders
Mental or Behavioral Dysfunction
584
68
0.030
None
1.000
3
2016
2019
Neurodevelopmental Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
535
14
0.310
None
1.000
3
2015
2018
Alveolar capillary dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
Congenital Abnormality
7
0.010
None
1.000
1
2013
2013
melanoma
disease
Neoplasms
Neoplastic Process
3087
515
0.100
None
1.000
1
1
2012
2012
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
Early-Stage Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
142
7
0.010
None
1.000
1
2020
2020
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
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
Microdeletion syndromes
disease
Disease or Syndrome
18
0.010
None
1.000
1
2017
2017
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.010
None
1.000
1
2010
2010
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018