Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
18 |
3
|
2004 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
17 |
15
|
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 |
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 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2020 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2020 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.310 |
None |
1.000 |
3 |
|
2015 |
2018 |
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 |
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 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.130 |
None |
1.000 |
3 |
1
|
2010 |
2018 |
Lymphocyte Count measurement
|
phenotype |
|
Laboratory Procedure
|
338
|
456
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
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 |
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 |
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 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.010 |
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 |