polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Achondrogenesis, type IB (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
34
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.100 |
None |
|
0 |
|
|
|
Congenital chloride diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
55
|
1.000 |
strong |
0.964 |
28 |
55
|
1996 |
2019 |
Cleidocranial Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
52
|
22
|
0.040 |
None |
1.000 |
4 |
2
|
2017 |
2019 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.330 |
None |
1.000 |
4 |
1
|
2002 |
2018 |
Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
110
|
0.040 |
None |
1.000 |
4 |
2
|
2017 |
2019 |
Pendred's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
142
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2017 |
Chronic liver disease
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
196
|
14
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2017 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2010 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2017 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Leprosy
|
disease |
Infections
|
Disease or Syndrome
|
190
|
120
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2013 |
Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
63
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2001 |
Alkalosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bartter Disease
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
47
|
8
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Chorioamnionitis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
132
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |