SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
Disease or Syndrome
2
3
0.760
None
1.000
9
3
2012
2020
Coronary Artery Disease
disease
Cardiovascular Diseases
Disease or Syndrome
1708
1577
0.030
None
1.000
3
2017
2019
aberrant right subclavian artery
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
2
0.020
None
1.000
2
2012
2019
Diabetes Mellitus
group
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
2803
824
0.020
None
1.000
2
2019
2019
Diabetes
disease
Endocrine System Diseases
Disease or Syndrome
2359
710
0.020
None
1.000
2
2019
2019
Coronary heart disease
disease
Cardiovascular Diseases
Disease or Syndrome
1576
1178
0.020
None
1.000
2
2014
2019
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.020
None
1.000
2
2013
2018
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.020
None
1.000
2
2013
2018
Metabolic Syndrome X
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
1125
591
0.010
None
1.000
1
2018
2018
Acute myocardial infarction
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
766
118
0.010
None
1.000
1
2019
2019
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
disease
Disease or Syndrome
4
7
0.300
strong
1.000
1
2012
2012
Microcephaly in adulthood
phenotype
Finding
1
0.300
strong
1.000
1
2016
2016
Premenopausal breast cancer
disease
Neoplastic Process
51
18
0.010
None
1.000
1
2018
2018
Steatohepatitis
disease
Digestive System Diseases
Disease or Syndrome
1143
75
0.010
None
1.000
1
2015
2015
Primary microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
39
9
0.300
strong
1.000
1
2016
2016
Ciliopathies
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
241
7
0.010
None
1.000
1
2012
2012
Myocardial Ischemia
disease
Cardiovascular Diseases
Disease or Syndrome
756
103
0.010
None
1.000
1
2018
2018
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.010
None
1.000
1
2019
2019
Angina Pectoris
phenotype
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Sign or Symptom
139
65
0.010
None
1.000
1
2017
2017
Congenital chromosomal disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
757
47
0.010
None
1.000
1
2016
2016
Coronary Arteriosclerosis
disease
Cardiovascular Diseases
Disease or Syndrome
1282
440
0.010
None
1.000
1
2019
2019
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.010
None
1.000
1
2016
2016
Down Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
766
80
0.010
None
1.000
1
2019
2019
Fatty Liver
disease
Digestive System Diseases
Disease or Syndrome
875
35
0.010
None
1.000
1
2015
2015
Obesity
disease
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
Disease or Syndrome
2821
1111
0.010
None
1.000
1
2018
2018