Intestinal malabsorption of fat
|
phenotype |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
44
|
12
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
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 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Senile Plaques
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
249
|
21
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
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 |
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 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
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 |
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 |
Fibrodysplasia Ossificans Progressiva
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
58
|
17
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2009 |
Ameloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
174
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Desmoplastic
|
disease |
|
Disease or Syndrome
|
117
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
184
|
32
|
0.320 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
Congenital atresia of extrahepatic bile duct
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
172
|
19
|
0.020 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
stage, pancreatic cancer
|
phenotype |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
18
|
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |