Atretic gallbladder
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Dark yellow urine
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated gamma-glutamyltransferase activity
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Periportal fibrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pale feces (finding)
|
phenotype |
Digestive System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Intestinal malabsorption of fat
|
phenotype |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Acholic stool
|
phenotype |
Digestive System Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Simpson-Golabi-Behmel syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Dementia, familial Danish
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
|
disease |
|
Disease or Syndrome
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Resectable Pancreatic Ductal Adenocarcinoma
|
disease |
|
Neoplastic Process
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Severe failure to thrive
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
stage, pancreatic cancer
|
phenotype |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
18
|
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Eyelid Xanthoma
|
disease |
Nutritional and Metabolic Diseases; Eye Diseases
|
Disease or Syndrome
|
19
|
32
|
0.100 |
None |
|
0 |
|
|
|
Albright's hereditary osteodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
20
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Epithelioid mesothelioma, malignant
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Conjugated hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Stage III Colon Cancer AJCC v7
|
disease |
|
Neoplastic Process
|
42
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stage III Colon Cancer AJCC v8
|
disease |
|
Neoplastic Process
|
42
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stage III Colon Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
43
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Niemann-Pick Disease, Type C1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
192
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |