Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ventricular Dysfunction
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Endomyocardial Fibrosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2015 |
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
77
|
75
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2000 |
Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
174
|
1331
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
SVEINSSON CHORIORETINAL ATROPHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
139
|
30
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
4
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
CAMPOMELIC DYSPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
68
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Glycogen Storage Disease Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
24
|
33
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Type II Mucolipidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
43
|
1
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Globoid cell leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
111
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.700 |
None |
1.000 |
15 |
4
|
1995 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2012 |
Liver Neoplasms, Experimental
|
phenotype |
Digestive System Diseases; Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
152
|
|
0.200 |
None |
1.000 |
2 |
|
1998 |
2004 |