Complete Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
117
|
50
|
0.300 |
limited |
1.000 |
1 |
|
2012 |
2012 |
Hearing Loss, Extreme
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Deafness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Carcinoma, Pancreatic Ductal
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mammary Neoplasms, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
527
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Bilateral Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Deaf Mutism
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Mammary Carcinoma, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
545
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.200 |
None |
0.941 |
17 |
|
1994 |
2019 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.140 |
None |
1.000 |
4 |
1
|
1999 |
2010 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.130 |
None |
1.000 |
3 |
1
|
2007 |
2017 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2017 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.120 |
None |
0.500 |
2 |
1
|
2004 |
2015 |
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Posterior embryotoxon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.100 |
None |
1.000 |
66 |
|
2005 |
2019 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.100 |
None |
1.000 |
64 |
|
2009 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
0.984 |
64 |
|
2002 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.984 |
62 |
|
1998 |
2020 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.100 |
None |
0.902 |
41 |
1
|
1997 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.971 |
34 |
|
1994 |
2020 |