Ectopic liver
|
disease |
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Diaminoaciduria
|
disease |
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hematomyelia
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intestinal Fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Subcutaneous Abscess
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Orotic aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Degenerative myelopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatoid adenocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Familial cervical artery dissection
|
disease |
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abdominal bloating
|
phenotype |
Digestive System Diseases
|
Sign or Symptom
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperargininemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
1.000 |
definitive |
1.000 |
37 |
25
|
1944 |
2020 |
Hypercapnia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
11
|
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Progressive spastic quadriplegia
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Amino Acid Metabolism, Inherited Disorders
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Urea Cycle Disorders, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.070 |
None |
1.000 |
7 |
|
2008 |
2018 |
Pulmonary Fibrosis - from Asbestos Exposure
|
disease |
Respiratory Tract Diseases; Occupational Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aneurysmal disease
|
disease |
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hair Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Alphavirus Infections
|
group |
Infections
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Friend leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cholestasis in newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Amino Acid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Corneal allograft rejection
|
disease |
|
Disease or Syndrome
|
21
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diffuse cutaneous leishmaniasis
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital absence of liver
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |