Autosomal Dominant Hereditary Pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
|
0 |
|
|
|
Carrier status
|
phenotype |
|
Finding
|
1
|
6
|
0.300 |
strong |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
110
|
1
|
0.300 |
None |
|
0 |
|
|
|
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
2
|
38
|
0.600 |
strong |
|
0 |
31
|
|
|
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
11
|
620
|
1.000 |
None |
0.979 |
91 |
605
|
1989 |
2020 |
Fibrocystic Disease of Pancreas
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
9
|
|
0.330 |
None |
1.000 |
15 |
|
1991 |
2018 |
Pulmonary Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
9
|
|
0.390 |
None |
1.000 |
15 |
|
1991 |
2017 |
Congenital bilateral aplasia of vas deferens
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
2
|
190
|
1.000 |
strong |
0.965 |
8 |
187
|
1992 |
2019 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
48
|
9
|
0.500 |
None |
1.000 |
2 |
|
1995 |
2020 |
Bronchiectasis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
22
|
8
|
0.500 |
strong |
0.952 |
0 |
2
|
1995 |
2019 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
4
|
0.500 |
None |
1.000 |
1 |
|
1996 |
2019 |
Pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
59
|
17
|
0.500 |
None |
0.936 |
2 |
1
|
1998 |
2020 |
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
268
|
231
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |
Pancreatitis, Chronic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.500 |
None |
1.000 |
1 |
|
1998 |
2019 |
Hereditary pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
7
|
74
|
0.730 |
strong |
1.000 |
3 |
33
|
1999 |
2013 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
110
|
4
|
0.500 |
strong |
1.000 |
1 |
|
1999 |
2005 |
Sinusitis
|
disease |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
7
|
|
0.330 |
None |
1.000 |
1 |
|
1999 |
2015 |
Acute recurrent pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
|
0.400 |
None |
1.000 |
2 |
|
2003 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
702
|
856
|
0.330 |
None |
1.000 |
1 |
|
2004 |
2019 |
Rhinitis
|
disease |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Idiopathic bronchiectasis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
4
|
1
|
0.320 |
None |
1.000 |
2 |
|
2006 |
2015 |
Diaphragmatic Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
41
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Male sterility
|
phenotype |
Male Urogenital Diseases
|
Finding
|
48
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2008 |
Subfertility, Male
|
phenotype |
Male Urogenital Diseases
|
Sign or Symptom
|
48
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2017 |
Choledochal Cyst, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |