Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.500 |
definitive |
1.000 |
17 |
|
1966 |
2011 |
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
12 |
|
1966 |
2008 |
USH1D/F, CDH23/PCDH15, DIGENIC
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
12 |
|
1966 |
2008 |
Usher syndrome, type 1D
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.400 |
None |
1.000 |
11 |
|
2001 |
2018 |
USHER SYNDROME, TYPE IB (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
11
|
0.300 |
definitive |
1.000 |
6 |
|
2001 |
2011 |
USHER SYNDROME, TYPE IA, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
6 |
|
2001 |
2011 |
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
6 |
|
2001 |
2011 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.200 |
None |
1.000 |
4 |
|
2007 |
2012 |
Usher syndrome, type 1A
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
2
|
0.330 |
strong |
1.000 |
4 |
|
2004 |
2011 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.030 |
None |
1.000 |
3 |
|
2018 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.030 |
None |
1.000 |
3 |
|
2018 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2010 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
38
|
4
|
0.320 |
moderate |
1.000 |
2 |
|
2001 |
2019 |
Superior semicircular canal dehiscence syndrome
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Retinal defect
|
phenotype |
Eye Diseases
|
Anatomical Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
NEUROTICISM
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
141
|
54
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Profound sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
22
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pituitary Adenoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
170
|
11
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pneumoconiosis
|
disease |
Respiratory Tract Diseases; Occupational Diseases
|
Disease or Syndrome
|
33
|
4
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Presbycusis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |