Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2004 |
2018 |
Epidermolysis bullosa, pretibial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
3
|
10
|
0.100 |
None |
|
0 |
|
|
|
Reduced beta/alpha synthesis ratio
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Stenosis of nasolacrimal duct
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gingival Squamous Cell Carcinoma
|
disease |
|
Neoplastic Process
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adult Anaplastic Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Childhood Anaplastic Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adult Clear Cell Sarcoma of Soft Parts
|
disease |
Neoplasms
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Clear Cell Sarcoma of Soft Parts
|
disease |
Neoplasms
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cutaneous anaphylaxis
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Anaplastic Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Clear Cell Sarcoma of Soft Tissue
|
disease |
Neoplasms
|
Neoplastic Process
|
51
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary Malignant Liver Neoplasm
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
60
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.100 |
None |
|
0 |
|
|
|
intracranial glioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
108
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Adult Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
144
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Newly Diagnosed Childhood Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
144
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Childhood Hepatocellular Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
146
|
17
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
147
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adult Hepatocellular Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
150
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Laryngeal Diseases
|
group |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
159
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mammary Tumorigenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
162
|
5
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Multiple malignancy
|
phenotype |
Neoplasms
|
Neoplastic Process
|
163
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chronic liver disease
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
196
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
PACHYONYCHIA CONGENITA 3
|
disease |
|
Disease or Syndrome
|
209
|
20
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |