Deafness, Autosomal Recessive 12
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
57
|
0.950 |
None |
1.000 |
23 |
56
|
1989 |
2018 |
USHER SYNDROME, TYPE ID
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
40
|
0.860 |
None |
0.960 |
25 |
35
|
1966 |
2016 |
Usher Syndrome, Type I
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
168
|
0.700 |
definitive |
0.941 |
17 |
2
|
2001 |
2016 |
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 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.470 |
strong |
1.000 |
8 |
15
|
1989 |
2019 |
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 |
PITUITARY ADENOMA 5, MULTIPLE TYPES
|
disease |
|
Neoplastic Process
|
2
|
8
|
0.400 |
None |
1.000 |
1 |
8
|
2017 |
2017 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.390 |
definitive |
1.000 |
15 |
1
|
2001 |
2019 |
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 |
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 |
USHER SYNDROME, TYPE IA, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
6 |
|
2001 |
2011 |
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 I, FRENCH VARIETY, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
6 |
|
2001 |
2011 |
Prolactinoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
187
|
6
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thyrotroph adenoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
11
|
|
0.300 |
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 |
Cushing Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
126
|
9
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bagassosis
|
disease |
Respiratory Tract Diseases; Occupational Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
PITUITARY ADENOMA PREDISPOSITION (disorder)
|
disease |
|
Finding
|
2
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pituitary-dependent Cushing's disease
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
115
|
8
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
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 |
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 |