Hereditary antithrombin III deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Distributive shock
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mesial temporal sclerosis
|
disease |
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Megaureter
|
disease |
|
Congenital Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Methylenetetrahydrofolate reductase gene mutation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
33
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
17
|
32
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Protein S Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
14
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
SMALL PATELLA SYNDROME
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
15
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Secondary hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Malignant Hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
prothrombin gene mutation
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
23
|
5
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Congenital posterior urethral valves
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
26
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Antithrombin III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
27
|
52
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Right ventricular failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
28
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypertensive heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
32
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Stiff-Person Syndrome
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
9
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
39
|
27
|
0.010 |
None |
< 0.001 |
1 |
|
1994 |
1994 |
Activated Protein C Resistance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
41
|
30
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2005 |
Protein C Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
14
|
0.020 |
None |
1.000 |
2 |
|
1990 |
1997 |
Atresia
|
disease |
|
Congenital Abnormality
|
44
|
1
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Vesicoureteral Reflux 1
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
47
|
10
|
0.020 |
None |
0.500 |
2 |
|
1999 |
2002 |
Cognitive changes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
50
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypernatremia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
59
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Dupuytren's Disease
|
disease |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
59
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |