Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
8
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dandy Walker cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
2-methyl-3-hydroxybutyric aciduria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
10
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Osteopenia/osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
14
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
RAPP-HODGKIN SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
|
disease |
|
Disease or Syndrome
|
7
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Juvenile arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
450
|
128
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Placental Steroid Sulfatase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mucolipidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
10
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Uterine Fibroids
|
group |
Neoplasms
|
Neoplastic Process
|
569
|
154
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Steroid Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
181
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |