Right upper quadrant pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Sign or Symptom
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
RADIAL-RENAL SYNDROME
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Glycogen Storage Disease Type VIII
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
13
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Benign recurrent intrahepatic cholestasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Hepatic osteodystrophy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Arthrogryposis with renal dysfunction and cholestasis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
|
0.020 |
None |
0.500 |
2 |
|
2014 |
2018 |
Secondary osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Arthrogryposis, renal dysfunction, and cholestasis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
16
|
13
|
0.020 |
None |
0.500 |
2 |
|
2014 |
2018 |
DOCK8 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cholestasis in newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Adenomatous goiter
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
23
|
4
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Hyperferritinaemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Progressive intrahepatic cholestasis (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
10
|
0.040 |
None |
1.000 |
4 |
|
1997 |
2018 |
Pancreatic adenocarcinoma metastatic
|
disease |
|
Neoplastic Process
|
32
|
2
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Neonatal Jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
33
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital absence of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
33
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2014 |
Alagille Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
38
|
18
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cardioembolic stroke
|
disease |
|
Disease or Syndrome
|
42
|
28
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Tumor thrombus
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Teratozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
53
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cholecystitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
55
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Social Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
57
|
6
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cholestatic liver disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
58
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |