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 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
17 |
15
|
2004 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
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 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
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 |
Macrodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
12
|
1
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2017 |
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 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
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 |
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Microdeletion syndromes
|
disease |
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |