Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.500 |
definitive |
1.000 |
18 |
|
1956 |
2017 |
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
|
0.400 |
None |
1.000 |
18 |
|
1996 |
2020 |
USHER SYNDROME, TYPE IA, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.500 |
definitive |
1.000 |
18 |
|
1956 |
2017 |
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.500 |
definitive |
1.000 |
18 |
|
1956 |
2017 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.060 |
None |
1.000 |
6 |
|
1999 |
2019 |
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.150 |
None |
1.000 |
5 |
|
2009 |
2019 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.050 |
None |
1.000 |
5 |
|
1996 |
2018 |
Usher syndrome type 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
16
|
0.320 |
None |
1.000 |
3 |
|
2005 |
2016 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2017 |
Circling behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
14
|
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.310 |
None |
1.000 |
2 |
|
2012 |
2018 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2014 |
Auditory neuropathy spectrum disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
17
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2017 |
Low frequency deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2011 |
Usher Syndrome, Type III
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
13
|
24
|
0.310 |
None |
1.000 |
2 |
|
1996 |
2005 |
Usher Syndrome, Type II
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
7
|
0.500 |
None |
1.000 |
2 |
|
2005 |
2014 |
Visual symptoms
|
phenotype |
|
Sign or Symptom
|
17
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Recessive sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Deaf-Blind Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Deafness, Autosomal Dominant 13
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
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 |
|
2017 |
2017 |
Auditory neuropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
24
|
20
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Deafness, Autosomal Dominant 9
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
10
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |