Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperchloremic metabolic acidosis
|
phenotype |
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cellular phenotype
|
phenotype |
|
Cell or Molecular Dysfunction
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2018 |
Ectopic pancreas
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Multiple Endocrine Neoplasia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
145
|
156
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.330 |
None |
1.000 |
3 |
|
2011 |
2018 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ichthyosis Bullosa of Siemens
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Irritable Bowel Syndrome
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
429
|
52
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Cholangitis, Sclerosing
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
188
|
276
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Primary sclerosing cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
264
|
58
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Portal Hypertension
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
167
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cholestatic liver disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
58
|
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption
|
phenotype |
Digestive System Diseases
|
Finding
|
175
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Islet Cell Tumor
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
108
|
5
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2020 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.100 |
None |
0.800 |
10 |
|
2001 |
2018 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Acquired Hypogonadotropic Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anovulatory (finding)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
55
|
8
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |