Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adrenogenital Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Factor VII Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
73
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
von Willebrand Disease, Type 2N
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
254
|
56
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
HEMOCHROMATOSIS, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
83
|
62
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.010 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Phosphate Diabetes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital adrenal hyperplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
87
|
36
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Niemann-Pick Disease, Type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
201
|
33
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Menkes Kinky Hair Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
99
|
0.080 |
None |
1.000 |
8 |
|
1994 |
2014 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.360 |
None |
1.000 |
7 |
|
2010 |
2018 |
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.440 |
None |
0.750 |
4 |
1
|
2000 |
2019 |
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.310 |
None |
1.000 |
3 |
|
2003 |
2007 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.130 |
None |
1.000 |
3 |
1
|
2011 |
2018 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.420 |
None |
1.000 |
3 |
|
2007 |
2017 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.410 |
None |
1.000 |
2 |
|
2007 |
2017 |
Hepatitis, Chronic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
224
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver Dysfunction
|
phenotype |
Digestive System Diseases
|
Finding
|
73
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Esophageal Varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
56
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acute hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
62
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atypical or prolonged hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.060 |
None |
1.000 |
6 |
|
2003 |
2017 |